heiBIB: Hoffmann, Georg F.

Hoffmann, Georg F. Prof. Dr. med., Prof. h.c. (RCH)Universität HeidelbergHeidelberg

Publikationsliste einschränken

Publikationsjahre

Publikationstypen

Liste

Sprache

Co-Autoren (Uni Heidelberg)

mehr ...

Co-Autoren (extern)

mehr ...

Publikationen in heiBIB

Küper, Katharina: Dipeptides in CSF and plasma : diagnostic and therapeutic potential in neurological diseases / Katharina Küper, Gernot Poschet, Julia Rossmann, Sven F. Garbade, Alexander Spiegelhalter, Dan Wen, … , 2025. - 9 S. : Illustrationen
In: Amino acids, ISSN 1438-2199. 57(2025), Artikel-ID 2, Seite 1-9
DOI: 10.1007/s00726-024-03434-1
Lehmann, Ronny: A novel blended and interprofessional approach to pediatric emergency training : self-assessment, perception, and perceived long-term effects / Ronny Lehmann, Michaela Klinke Petrowsky, Anke Seitz, Jochen Meyburg, Walter Eppich, Georg F. Hoffma… , 28 November 2024. - 11 S. : Illustrationen
In: BMC medical education, ISSN 1472-6920. 24(2024), 1, Seite 1-11
DOI: 10.1186/s12909-024-06381-3
Zielonka, Matthias: Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders / Matthias Zielonka, Stefan Kölker, Sven F. Garbade, Florian Gleich, Sandesh C.S. Nagamani, Andrea L. … , 19 August 2024. - 9 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 143(2024), 1, Artikel-ID 108566, Seite 108566-1-108566-9
DOI: 10.1016/j.ymgme.2024.108566
Choukair, Daniela: Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine disease / Daniela Choukair, Janna Mittnacht, Dorothea Treiber, Georg F. Hoffmann, Corinna Grasemann, Angela Hu… , 21 June 2024. - 9 S. : Illustrationen
In: Clinical endocrinology, ISSN 1365-2265. 101(2024), 2 vom: Aug., Seite 121-129
DOI: 10.1111/cen.15105
Hammann, Nicole Irene: MRI in LARS1 deficiency : spectrum, patterns, and correlation with acute neurological deterioration / Nicole Hammann, Dominic Lenz, Alyssa Bianzano, Ralf A. Husain, Eva Forman, Jonathan A. Bernstein, Ta… , September 2024. - 19 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 5, Seite 1028-1046
DOI: 10.1002/jimd.12764
Urban, Oliver Y.: Systematic quantitative modeling of the natural history of Aicardi syndrome : a cross sectional study of 245 published cases / Oliver Y. Urban, Jan H. Driedger, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker, Markus Ries and… , 04 December 2024. - 11 S. : Illustrationen
In: Orphanet journal of rare diseases, ISSN 1750-1172. 19(2024), Artikel-ID 457, Seite 1-11
DOI: 10.1186/s13023-024-03375-8
Reischl-Hajiabadi, Anna Theresa: Newborn screening for aromatic l-amino acid decarboxylase deficiency : strategies, results, and implication for prevalence calculations / Anna T. Reischl-Hajiabadi, Jürgen G. Okun, Dirk Kohlmüller, Georgi Manukjan, Sebastian Hegert, Jürge… , 31 January 2024. - 7 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3, Artikel-ID 108148, Seite 108148-1-108148-7
DOI: 10.1016/j.ymgme.2024.108148
Hammann, Nicole Irene: Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease / Nicole Hammann, Dominic Lenz, Ivo Baric, Ellen Crushell, Carlo Dionisi Vici, Felix Distelmaier, Fran… , March 2024. - 10 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3 vom: März, Artikel-ID 108118, Seite 1-10
DOI: 10.1016/j.ymgme.2023.108118
Posset, Roland: Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Sandesh C. S. Nagamani, Andrea L. Gropman, Friederik… , March 2024. - 9 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3 vom: März, Artikel-ID 108112, Seite 1-9
DOI: 10.1016/j.ymgme.2023.108112
Sandmann, Christoph: Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex / Christoph Hofmann, Steffen Syrbe, Joachim Hebe, Jannis Kreft, Sebastian Stark, Till Milde, Mirko Völ… , 2024. - 6 S. : Illustrationen, Diagramme
In: American journal of medical genetics, ISSN 1552-4833. 194(2024), 5, Artikel-ID e63508, Seite 1-6
DOI: 10.1002/ajmg.a.63508
Lenz, Dominic: Genetic landscape of pediatric acute liver failure of indeterminate origin / Dominic Lenz, Lea D. Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, … , May 2024. - 13 S. : Illustrationen
In: Hepatology, ISSN 1527-3350. 79(2024), 5 vom: Mai, Seite 1075-1087
DOI: 10.1097/HEP.0000000000000684
Posset, Roland: Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Svenja Scharre, Jürgen G. Okun, Andrea L. Gropman, S… , April 2024. - 12 S. : Illustrationen
In: Genetics in medicine, ISSN 1530-0366. 26(2024), 4 vom: Apr., Artikel-ID 101039, Seite 1-12
DOI: 10.1016/j.gim.2023.101039
Reischl-Hajiabadi, Anna Theresa: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias / Anna T. Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter … , July 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 4 vom: Juli, Seite 674-689
DOI: 10.1002/jimd.12731
Zaunseder, Elaine: Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases / Elaine Zaunseder, Ulrike Mütze, Jürgen G. Okun, Georg F. Hoffmann, Stefan Kölker, Vincent Heuveline,… , 6 August 2024. - 24 S. : Illustrationen
In: Cell metabolism, ISSN 1932-7420. 36(2024), 8 vom: Aug., Seite [1], 1882–1897, e1-e7
DOI: 10.1016/j.cmet.2024.05.006
Mütze, Ulrike: Neurological outcome in long-chain hydroxy fatty acid oxidation disorders / Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Ka… , 23 January 2024. - 16 S. : Illustrationen
In: Annals of Clinical and Translational Neurology, ISSN 2328-9503. 11(2024), 4, Seite 883-898
DOI: 10.1002/acn3.52002
Seidl, Marie: ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae / Marie J. Seidl, Svenja Scharre, Roland Posset, Ann-Catrin Druck, Friederike Epp, Jürgen G. Okun, Bia… , January 2024. - 11 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 1 vom: Jan., Artikel-ID 108097, Seite 1-11
DOI: 10.1016/j.ymgme.2023.108097
Specht, Sabine: Fat embolism syndrome in Duchenne muscular dystrophy : report on a novel case and systematic literature review / Sabine Specht, Irina Zhukova, Jens H. Westhoff, Larissa Erb, Andreas Ziegler, Stefan Kölker, Georg F… , January 2024. - 10 S. : Illustrationen
In: European journal of paediatric neurology, ISSN 1532-2130. 48(2024) vom: Jan., Seite 91-100
DOI: 10.1016/j.ejpn.2023.11.012
Posset, Roland: The challenge of understanding and predicting phenotypic diversity in urea cycle disorders / Roland Posset, Matthias Zielonka, Florian Gleich, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker,… , November 2023. - 10 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 46(2023), 6 vom: Nov., Seite 1007-1016
DOI: 10.1002/jimd.12678
Zumbaum-Fischer, Franziska: Die Interdisziplinäre Familienmedizinische Sprechstunde in der Kinderheilkunde - ein integrativer Ansatz für komplex belastete Familien mit einem chronisch kranken Kind / Franziska Zumbaum-Fischer, Mechthild Hartmann, Urania Kotzaeridou, Anne Mondry, Franz Resch, Georg F… , 2023
In: Psychotherapie, Psychosomatik, medizinische Psychologie, ISSN 1439-1058. 73(2023), 12, Seite 510-515
DOI: 10.1055/a-2136-7397
Janda, Joachim: High throughput newborn screening for Sickle cell disease - application of two-tiered testing with a qPCR-based primary screen / Joachim Janda, Sebastian Hegert, Jessica Bzdok, Rafael Tesorero, Ute Holtkamp, Siegfried Burggraf, E… , 2023. - 7 S. : Illustrationen
In: Klinische Pädiatrie, ISSN 0300-8630. (2023), Seite 1-7
DOI: 10.1055/a-2153-7789
Maier, Esther M.: Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples / Esther M. Maier, Ulrike Mütze, Nils Janzen, Ulrike Steuerwald, Uta Nennstiel, Birgit Odenwald, Elfri… , 2023. - 20 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), Seite 1-20
DOI: 10.1002/jimd.12671
Schnabel, Elena Ana: Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria / Elena Schnabel, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmi… , 2023. - 15 S. : Illustrationen
In: Nutrients, ISSN 2072-6643. 15(2023), 15, Artikel-ID 3355, Seite 1-15
DOI: 10.3390/nu15153355
Hoffmann, Georg F.: Abnormalities of tetrahydrobiopterin metabolism / authors Georg F Hoffmann MD, Oya Kuseyri Hübschmann MD, 05.30.2023
In: MedLink neurology, ISSN 2831-9125. (2023), Seite ?
Yıldız, Yılmaz: Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism / Yılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, Filippo Manti, Meryem Karaca, Ida V… , 15 July 2023. - 16 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), Seite 1-16
DOI: 10.1002/jimd.12658
Thalwitzer, Kim M.: Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1 / Kim M. Thalwitzer, Jan H. Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna K. Bölsterli, Sara… , July 05, 2023. - 13 S.
In: Neurology, ISSN 1526-632X. 101(2023), 9, Seite e879-e891
DOI: 10.1212/WNL.0000000000207550
Tesorero, Rafael: A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry / Rafael Tesorero, Joachim Janda, Friederike Hörster, Patrik Feyh, Ulrike Mütze, Jana Hauke, Kathrin S… , March 10, 2023. - 16 S.
In: PLOS ONE, ISSN 1932-6203. 18(2023), 3 vom: März, Artikel-ID e0283024, Seite 1-16
DOI: 10.1371/journal.pone.0283024
Oberste-Berghaus, Corinna: Transition for adolescents with a rare disease : results of a nationwide German project / Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, … , 25 April 2023. - 9 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 18(2023) vom: Apr., Artikel-ID 93, Seite 1-9
DOI: 10.1186/s13023-023-02698-2
Stich, Maximilian: Live-virus neutralization of the omicron variant in children and adults 14 months after SARS-CoV-2 wild-type infection / Maximilian Stich, Louise Benning, Claudius Speer, Sven F. Garbade, Marie Bartenschlager, Heeyoung Ki… , 16 February 2023. - 11 S.
In: Journal of medical virology, ISSN 1096-9071. 95(2023), 3 vom: Feb., Artikel-ID e28582, Seite 1-11
DOI: 10.1002/jmv.28582
Schröter, Julian: aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment / Julian Schroeter, Tal Dattner, Jennifer Huellein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffm… , 2023. - 7 S.
In: Computational and structural biotechnology journal, ISSN 2001-0370. 21(2023), Seite 1077-1083
DOI: 10.1016/j.csbj.2023.01.027
Monostori, Péter: Identification of potential interferents of methylmalonic acid : a previously unrecognized pitfall in clinical diagnostics and newborn screening / Péter Monostori, Markus Godejohann, Joachim Janda, Zsolt Galla, Gábor Rácz, Glynis Klinke, Ildikó Sz… , 2023. - 9 S. : Diagramme
In: Clinical biochemistry, ISSN 1873-2933. 111(2023) vom: Jan., Seite 72-80
DOI: 10.1016/j.clinbiochem.2022.09.010
Kovacevic, Alexander: Evaluation of right ventricular function in patients with propionic acidemia : a cross-sectional study / Alexander Kovacevic, Sven F. Garbade, Friederike Hörster, Georg F. Hoffmann, Matthias Gorenflo, Derl… , 5 January 2023. - 13 S. : Illustrationen
In: Children, ISSN 2227-9067. 10(2023), 1, Artikel-ID 113, Seite 1-13
DOI: 10.3390/children10010113
Kuseyri Hübschmann, Oya: Integrative approach to predict severity in nonketotic hyperglycinemia / Oya Kuseyri Hübschmann, MD, Natalia Alexandra Juliá-Palacios, MD, Mireia Olivella, PhD, Philipp Gude… , August 2022. - 12 S. : Illustrationen
In: Annals of neurology, ISSN 1531-8249. 92(2022), 2 vom: Aug., Seite 292-303
DOI: 10.1002/ana.26423
Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy / Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Ste… , 2022. - 5 S.
In: Stem cell research, ISSN 1876-7753. 64(2022) vom: Okt., Artikel-ID 102879, Seite 1-5
DOI: 10.1016/j.scr.2022.102879
Choukair, Daniela: Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie : Ergebnisse aus dem Projekt TRANSLATE-NAMSE / Daniela Choukair, Min Ae Lee-Kirsch, Reinhard Berner, Corinna Grasemann, Olaf Hiort, Fabian Hauck, C… , 2022. - 9 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 170(2022), 1, Seite 52-60
DOI: 10.1007/s00112-021-01378-4
Schröter, Julian: Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies / Julian Schröter, Bernt Popp, Heiko Brennenstuhl, Jan H. Döring, Stephany H. Donze, Emilia K. Bijlsma… , 11 January 2022. - 9 S.
In: European journal of human genetics, ISSN 1476-5438. 30(2022), 3, Seite 298-306
DOI: 10.1038/s41431-021-01027-0
Stich, Maximilian: Waning immunity 14 months after SARS-CoV-2 infection / Maximilian Stich, MD; Louise Benning, MD; Claudius Speer, MD; Sven F. Garbade, PhD; Marie Bartenschl… , 2022. - 4 S.
In: Pediatrics, ISSN 1098-4275. 150(2022), 5, Artikel-ID e2022057151, Seite 1-4
DOI: 10.1542/peds.2022-057151
Kovacevic, Alexander: Detection of early cardiac disease manifestation in propionic acidemia - results of a monocentric cross-sectional study / Alexander Kovacevic, Sven F. Garbade, Friederike Hörster, Georg F. Hoffmann, Matthias Gorenflo, Derl… , 14 November 2022. - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 4, Seite 349-358
DOI: 10.1016/j.ymgme.2022.10.007
Rossmann, Julia: Validated UPLC-MS/MS method for the analysis of vitamin B6 pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid / Julia Rossmann, Stine Christ, Sylvia Richter, Sven Friedrich Garbade, Georg Friedrich Hoffmann, Thom… , 14 October 2022. - 9 S.
In: Journal of chromatography, ISSN 1873-376X. 1212(2022), Artikel-ID 123503, Seite 1-9
DOI: 10.1016/j.jchromb.2022.123503
Haddad, Anneke: Long COVID symptoms in exposed and infected children, adolescents and their parents one year after SARS-CoV-2 infection : A prospective observational cohort study / Anneke Haddad, Aleš Janda, Hanna Renk, Maximilian Stich, Pauline Frieh, Klaus Kaier, Florens Lohrman… , 22 September 2022. - 13 S.
In: EBioMedicine, ISSN 2352-3964. 84(2022), Artikel-ID 104245, Seite 1-13
DOI: 10.1016/j.ebiom.2022.104245
Reischl-Hajiabadi, Anna Theresa: Maternal vitamin B12 deficiency detected by newborn screening : evaluation of causes and characteristics / Anna T. Reischl-Hajiabadi, Sven F. Garbade, Patrik Feyh, Karl Heinz Weiss, Ulrike Mütze, Stefan Kölk… , 13 September 2022. - 17 S.
In: Nutrients, ISSN 2072-6643. 14(2022), 18, Artikel-ID 3767, Seite 1-17
DOI: 10.3390/nu14183767
Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy / JulianSchröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Stef… , 2 August 2022. - 5 S.
In: Stem cell research, ISSN 1876-7753. 64(2022), Artikel-ID 102879, Seite 1-5
DOI: 10.1016/j.scr.2022.102879
Götz, Maren: Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency / M. Goetz, J. Schröter, T. Dattner, H. Brennenstuhl, D. Lenza, T. Opladen, F. Hörster, J.G. Okun, G.F… , 19 July 2022. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 1, Seite 18-25
DOI: 10.1016/j.ymgme.2022.07.007
Mühlig, Anne K.: The calcium-sensing receptor stabilizes podocyte function in proteinuric humans and mice / Anne K. Mühlig, Johanna Steingröver, Hannah S. Heidelbach, Madelaine Wingerath, Wiebke Sachs, Irm He… , 7 March 202. - 14 S.
In: Kidney international, ISSN 1523-1755. 101(2022), 6 vom: Juni, Seite 1186-1199
DOI: 10.1016/j.kint.2022.01.036
Himmelreich, Nastassja: Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature / Nastassja Himmelreich, Bianca Dimitrov, Matthias Zielonka, Andreas Hüllen, Georg Friedrich Hoffmann,… , 26 June 2022. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 136(2022), 4, Seite 274-281
DOI: 10.1016/j.ymgme.2022.06.005
Sommerburg, Olaf: Final results of the southwest German pilot study on cystic fibrosis newborn screening : evaluation of an IRT/PAP protocol with IRT-dependent safety net / Olaf Sommerburg, Mirjam Stahl, Susanne Hämmerling, Gwendolyn Gramer, Martina U. Muckenthaler, Jürgen… , 2022. - 12 S.
In: Journal of cystic fibrosis, ISSN 1873-5010. 21(2022), 3 vom: Mai, Seite 422-433
DOI: 10.1016/j.jcf.2021.10.007
Dobritzsch, Doreen: β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity / Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Dirk Maurer, Ardeshir A. Monavari, Anders Gummesso… , 13 June 2022. - 9 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 136(2022), 3, Seite 177-185
DOI: 10.1016/j.ymgme.2022.01.102
Dikow, Nicola: From newborn screening to genomic medicine : challenges and suggestions on how to incorporate genomic newborn screening in public health programs / Nicola Dikow, Beate Ditzen, Stefan Kölker, Georg F. Hoffmann, and Christian P. Schaaf, February 17, 2022. - 8 S.
In: Medizinische Genetik, ISSN 1863-5490. 34(2022), 1, Seite 13-20
DOI: 10.1515/medgen-2022-2113
Gramer, Gwendolyn: Second-tier strategies in newborn screening : potential and limitations / Gwendolyn Gramer and Georg F. Hoffmann, March 14, 2022. - 8 S.
In: Medizinische Genetik, ISSN 1863-5490. 34(2022), 1, Seite 21-28
DOI: 10.1515/medgen-2022-2117
Schröter, Julian: Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy / Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann, Ste… , 24 May 2022. - 4 S.
In: Stem cell research, ISSN 1876-7753. 62(2022), Artikel-ID 102818, Seite 1-4
DOI: 10.1016/j.scr.2022.102818
Hoffmann, Georg F.: Seltene Erkrankungen / Georg F. Hoffmann, Helge Hebestreit, 17 January 2022. - 3 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 170(2022), 1, Seite 10-12
DOI: 10.1007/s00112-021-01371-x
Saffari, Afshin: Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy : a systematic cross-sectional analysis of 160 published cases / Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F.… , 2022. - 13 S.
In: Autophagy, ISSN 1554-8635. 18(2022), 7, Seite 1-13
DOI: 10.1080/15548627.2021.1990671
Rascher, Wolfgang: Arzneimittel für neuartige Therapien: Kurzfassung der Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e.V. (DGKJ) / Wolfgang Rascher, Thomas Klingebiel, Egbert Herting, Georg F. Hoffmann, Reinhard Berner, Ingeborg Kr… , 2021. - 3 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 169(2021), 1, Seite 57-59
Rascher, Wolfgang: Erratum zu: Arzneimittel für neuartige Therapien - Perspektiven, Chancen, Herausforderungen : Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e.V. (DGKJ) / Wolfgang Rascher, Thomas Klingebiel, Egbert Herting, Georg F. Hoffmann, Reinhard Berner, Ingeborg Kr… , 04 January 2021. - 2 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 169(2021), 1, Seite 60-61
Rascher, Wolfgang: Arzneimittel für neuartige Therapien - Perspektiven, Chancen, Herausforderungen / Wolfgang Rascher, Thomas Klingebiel, Egbert Herting, Georg F. Hoffmann, Reinhard Berner, Ingeborg Kr… , 2021. - 11 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 169(2021), Suppl1, Seite 18-28
DOI: 10.1007/s00112-020-01056-x
Burgard, Peter: Unlocking the Treatment for PKU Brewin Books / Peter Burgard, Georg F. Hoffmann, 2021. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 1, Seite 282-283
DOI: 10.1002/jimd.12350
Lenz, Dominic: NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency / Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ivo Baric, Nikolas Boy,… , 13 August 2021. - 12 S.
In: Journal of clinical immunology, ISSN 1573-2592. 41(2021), 8, Seite 1781-1793
DOI: 10.1007/s10875-021-01110-7
Brennenstuhl, Heiko: Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria / Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, Federico Baronio, Lars Beedgen, Florian Gleic… , 2021. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 5, Seite 1272-1287
DOI: 10.1002/jimd.12412
Semino, Francesca: Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder / Francesca Semino, Julian Schröter, Marjolein H. Willemsen, Thomas Bast, Saskia Biskup, Stefanie Beck… , 2021. - 7 S. : Illustrationen
In: Human mutation, ISSN 1098-1004. 42(2021), 9, Seite 1094-1100
DOI: 10.1002/humu.24245
Keller, Mareike: Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry / Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia P… , November 2021. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 6 vom: Nov., Seite 1489-1502
DOI: 10.1002/jimd.12416
Kuseyri Hübschmann, Oya: Brain MR patterns in inherited disorders of monoamine neurotransmitters : an analysis of 70 patients / Oya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, Filippo Manti, Gabriella Horvath, Elisend… , July 2021. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 4 vom: Juli, Seite 1070-1082
DOI: 10.1002/jimd.12360
Opladen, Thomas: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec / Thomas Opladen, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Debora Call, Kim Green, Ulrike Schara, W… , 29 June 2021. - 10 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 169(2021), 8, Seite 738-747
DOI: 10.1007/s00112-021-01232-7
Schmoch, Thomas: Next-generation sequencing diagnostics of bacteremia in pediatric sepsis / Thomas Schmoch, Dr. med, Jens H. Westhoff, Dr. med, Sebastian O. Decker, Dr. med, Annabell Skarabis,… , 2021. - 10 S.
In: Medicine, ISSN 1536-5964. 100(2021), 25, Artikel-ID e26403, Seite 1-10
DOI: 10.1097/MD.0000000000026403
Kuseyri Hübschmann, Oya: Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines / Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Roser Pons, … , 20 September 2021. - 13 S.
In: Nature Communications, ISSN 2041-1723. 12(2021), Artikel-ID 5529, Seite 1-13
DOI: 10.1038/s41467-021-25515-5
Mütze, Ulrike: Newborn screening and disease variants predict neurological outcome in isovaleric aciduria / Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, Ren… , 25 January 2021. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 4 vom: 25. Jan., Seite 1-14
DOI: 10.1002/jimd.12364
Joachim, Alexander: Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools : a cluster randomised trial / Alexander Joachim, Felix Dewald, Isabelle Suárez, Michael Zemlin, Isabelle Lang, Regine Stutz, Anna … , 25 August 2021. - 10 S.
In: EClinicalMedicine, ISSN 2589-5370. 39(2021), Artikel-ID 101082, Seite 1-10
DOI: 10.1016/j.eclinm.2021.101082
Saffari, Afshin: 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy / Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, … , 20 October 2021. - 16 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 441, Seite 1-16
DOI: 10.1186/s13023-021-02075-x
Stich, Maximilian: Transmission of severe acute respiratory syndrome coronavirus 2 in households with children, Southwest Germany, May–August 2020 / Maximilian Stich, Roland Elling, Hanna Renk, Aleš Janda, Sven F. Garbade, Barbara Müller, Hans-Georg… , October 25, 2021. - 11 S.
In: Emerging infectious diseases, ISSN 1080-6059. 27(2021), 12, Seite 3009-3019
DOI: 10.3201/eid2712.210978
Choukair, Daniela: An integrated clinical pathway for diagnosis, treatment and care of rare diseases : model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee / Daniela Choukair, Fabian Hauck, Markus Bettendorf, Heiko Krude, Christoph Klein, Tobias Bäumer, Rein… , 12 November 2021. - 13 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 474, Seite 1-13
DOI: 10.1186/s13023-021-02092-w
Märtner, E.M. Charlotte: Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1 : a national prospective multi-centre study / E.M. Charlotte Märtner, Esther M. Maier, Katharina Mengler, Eva Thimm, Katharina A. Schiergens, Thor… , 2021. - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 3, Seite 629-638
DOI: 10.1002/jimd.12335
Haas, Dorothea: Differences of phenylalanine concentrations in dried blood spots and in plasma : erythrocytes as a neglected component for this observation / Dorothea Haas, Jana Hauke, Kathrin V. Schwarz, Lucia Consalvi, Friedrich K. Trefz, Nenad Blau, Georg… , 3 October 2021. - 10 S.
In: Metabolites, ISSN 2218-1989. 11(2021), 10, Artikel-ID 680, Seite 1-10
DOI: 10.3390/metabo11100680
Märtner, E.M. Charlotte: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1 : a national prospective follow-up study / E.M. Charlotte Märtner, Eva Thimm, Philipp Guder, Katharina A. Schiergens, Frank Rutsch, Sylvia Rolo… , 29 September 2021. - 12 S.
In: Scientific reports, ISSN 2045-2322. 11(2021), Artikel-ID 19300, Seite 1-12
DOI: 10.1038/s41598-021-98809-9
Gramer, Gwendolyn: Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis : implications for process quality and patient care / Gwendolyn Gramer, Inken Brockow, Christiane Labitzke, Junmin Fang-Hoffmann, Andreas Beivers, Patrik … , 2021. - 11 S.
In: European journal of pediatrics, ISSN 1432-1076. 180(2021), 4, Seite 1145-1155
DOI: 10.1007/s00431-020-03849-4
Heidenreich, Elena: A novel UPLC-MS/MS method identifies organ-specific dipeptide profiles / Elena Heidenreich, Tilman Pfeffer, Tamara Kracke, Nils Mechtel, Peter Nawroth, Georg F. Hoffmann, Cl… , 15 September 2021. - 15 S.
In: International journal of molecular sciences, ISSN 1422-0067. 22(2021), 18, Artikel-ID 9979, Seite 1-15
DOI: 10.3390/ijms22189979
Boy, Nikolas: Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1 : a meta-analysis / Nikolas Boy, MD, Katharina Mengler, MD, Jana Heringer-Seifert, MD, Georg F. Hoffmann, MD, Sven F. G… , 2021. - 9 S.
In: Genetics in medicine, ISSN 1530-0366. 23(2021), 1, Seite 13-21
DOI: 10.1038/s41436-020-00971-4
Mütze, Ulrike: Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated / Ulrike Mütze, MD, Magdalena Walter, PhD, Mareike Keller, MSc, Gwendolyn Gramer, MD, Sven F. Garbade,… , 11 February 2021. - 7 S.
In: The journal of pediatrics, ISSN 1097-6833. 235(2021) vom: Aug., Seite 42-48
DOI: 10.1016/j.jpeds.2021.02.009
Pilotto, Andrea: Phenylalanine effects on brain function in adult Phenylketonuria / Andrea Pilotto, MD, Carl M. Zipser, MD, Edytha Leks, MD, Dorothea Haas, MD, Gwendolyn Gramer, MD, Pe… , 2021. - 13 S.
In: Neurology, ISSN 1526-632X. 96(2021), 3, Seite e399-e411
DOI: 10.1212/WNL.0000000000011088
Gramer, Gwendolyn: Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening / Gwendolyn Gramer, Georg F. Hoffmann, Julia B. Hennermann, 8 March 2021. - 6 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 27(2021), Artikel-ID 100738, Seite 1-6
DOI: 10.1016/j.ymgmr.2021.100738
Burlina, Alberto: Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency : the northeastern Italian experience / Alberto Burlina, Antonella Giuliani, Giulia Polo, Daniela Gueraldi, Vincenza Gragnaniello, Chiara Ca… , 13 March 2021. - 7 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 133(2021), 1, Seite 56-62
DOI: 10.1016/j.ymgme.2021.03.009
Driedger, Jan Henje: Refining genotypes and phenotypes in KCNA2-related neurological disorders / Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobia… , 10 March 2021
In: International journal of molecular sciences, ISSN 1422-0067. 22(2021), 6, Artikel-ID 2824, Seite 1-16
DOI: 10.3390/ijms22062824
Sonnek, Benedikt: Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS) / Benedikt Sonnek, Jan Henje Döring, Ulrike Mütze, Susanne Schubert-Bast, Thomas Bast, Doreen Balke, G… , 2021. - 7 S.
In: European journal of paediatric neurology, ISSN 1532-2130. 30(2021), Seite 121-127
DOI: 10.1016/j.ejpn.2020.10.010
Schröter, Julian: Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies / Julian Schröter, MD, Jan H. Döring, MD, Sven F. Garbade, PhD, Georg F. Hoffmann, MD, Stefan Kölker, … , 2021. - 8 S.
In: Genetics in medicine, ISSN 1530-0366. 23(2021), 3, Seite 516-523
DOI: 10.1038/s41436-020-01001-z
Mayr, Toni: Optimized trientine-dihydrochloride therapy in pediatric patients with wilson disease : is weight-based dosing justified? / Toni Mayr, Peter Ferenci, Markus Weiler, Alexander Fichtner, Arianeb Mehrabi, Georg Friedrich Hoffma… , 2021. - 8 S.
In: Journal of pediatric gastroenterology and nutrition, ISSN 1536-4801. 72(2021), 1 vom: Jan., Seite 115-122
DOI: 10.1097/MPG.0000000000002902
Tönshoff, Burkhard: Prevalence of SARS-CoV-2 infection in children and their parents in southwest Germany / Burkhard Tönshoff, Barbara Müller, Roland Elling, Hanna Renk, Peter Meissner, Hartmut Hengel, Sven F… , January 22, 2021. - 8 S.
In: JAMA pediatrics, ISSN 2168-6211. 175(2021), 6, Seite 586-593
DOI: 10.1001/jamapediatrics.2021.0001
Garbade, Sven: Quantitative retrospective natural history modeling for orphan drug development / Sven F. Garbade, Matthias Zielonka, Shoko Komatzsuzaki, Stefan Kölker, Georg F. Hoffmann, Katrin Hin… , 2021. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 1, Seite 99-109
DOI: 10.1002/jimd.12304
Garbade, Sven: FDA orphan drug designations for lysosomal storage disorders : a cross sectional analysis / Sven F. Garbade PhD, Matthias Zielonka MD, Konstantin Mechler MD, Stefan Kölker MD, Georg F. Hoffman… , January 14, 2020. - 29 S.
In: medRxiv. (2020), Artikel-ID 2020.01.05.20016568, Seite 1-29
DOI: 10.1101/2020.01.05.20016568
Hoffmann, Georg F.: Seltene Erkrankungen in der Pädiatrie : von der Diagnostik und Behandlung einzelner Erkrankungen zum Aufbau von Netzwerkstrukturen / G.F. Hoffmann, C. Mundlos, J. Dötsch, H. Hebestreit, 16. July 2020. - 13 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 168(2020), Seite 1-13
DOI: 10.1007/s00112-020-00978-w
Gramer, Gwendolyn: Vitamin-B12-Mangel im Neugeborenen- und Säuglingsalter : Ursachen, Früherkennung, Diagnostik und Vorstellung eines primär oralen Behandlungsschemas / Gwendolyn Gramer, Georg F. Hoffmann, 02 September 2020. - 7 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. ?(2020), Seite 1-7
DOI: 10.1007/s00112-020-01008-5
Zielonka, Matthias: From genotype to phenotype : early prediction of disease severity in argininosuccinic aciduria / Matthias Zielonka, Sven F. Garbade, Florian Gleich, Jürgen G. Okun, Sandesh C. S. Nagamani, Andrea L… , 15 January 2020. - 15 S.
In: Human mutation, ISSN 1098-1004. 41(2020), 5, Seite 946-960
DOI: 10.1002/humu.23983
Saffari, Afshin: Axenfeld-Rieger anomaly and neuropsychiatric problems : more than meets the eye / Afshin Saffari, Andreas Ziegler, Andreas Merkenschlager, Stefan Krüger, Stefan Kölker, Georg Friedri… , 11. Februar 2020. - 6 S.
In: Neuropediatrics, ISSN 1439-1899. 51(2020), 03, Seite 192-197
DOI: 10.1055/s-0039-3402037
Driedger, Jan Henje: The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood / Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G… , 28 October 2020. - 14 S.
In: Biomedicines, ISSN 2227-9059. 8(2020), 11, Artikel-ID 456, Seite 1-14
DOI: 10.3390/biomedicines8110456
Posset, Roland: Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders / Roland Posset, Stefan Kölker, Florian Gleich, Jürgen G. Okun, Andrea L. Gropman, Sandesh C.S. Nagama… , 7 November 2020. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 131(2020), 4, Seite 390-397
DOI: 10.1016/j.ymgme.2020.10.013
Brennenstuhl, Heiko: Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency / Heiko Brennenstuhl, Sven F. Garbade, Jürgen G. Okun, Patrik Feyh, Georg F. Hoffmann, Claus-Dieter La… , 07 July 2020. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 131(2020), 1/2, Seite 163-170
DOI: 10.1016/j.ymgme.2020.07.001
Mütze, Ulrike: Long-term outcomes of individuals with metabolic diseases identified through newborn screening / Ulrike Mütze, MD, Sven F. Garbade, PhD, Gwendolyn Gramer, MD, Martin Lindner, MD, Peter Freisinger, … , October 13, 2020. - 11 S.
In: Pediatrics, ISSN 1098-4275. 146(2020,5) Artikelnummer e20200444, 11 Seiten
DOI: 10.1542/peds.2020-0444
Aidaros, Anas Al: Targeted metabolomic profiling of total fatty acids in human plasma by liquid chromatography-tandem mass spectrometry / Anas Al Aidaros, Charu Sharma, Claus-Dieter Langhans, Jürgen G. Okun, Georg F. Hoffmann, Majed Dasou… , 9 October 2020. - 15 S.
In: Metabolites, ISSN 2218-1989. 10(2020,10) Artikel-Nummer 400, 15 Seiten
DOI: 10.3390/metabo10100400
Gramer, Gwendolyn: Vitamin B12 deficiency in newborns and their mothers : novel approaches to early detection, treatment and prevention of a global health issue / Gwendolyn Gramer, Georg F. Hoffmann, 29 October 2020. - 9 S.
In: Current medical science, ISSN 2523-899X. 40(2020), 5, Seite 801-809
DOI: 10.1007/s11596-020-2260-7
Posset, Roland: Long-term effects of medical management on growth and weight in individuals with urea cycle disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Andrea L. Gropman, Pascale de Lonlay, Georg F. Hoffm… , 20 July 2020. - 13 S.
In: Scientific reports, ISSN 2045-2322. 10(2020,1) Artikel-Nummer 11948, 13 Seiten
DOI: 10.1038/s41598-020-67496-3
Probst, Joris: Chronic hyperammonemia causes a hypoglutamatergic and hyperGABAergic metabolic state associated with neurobehavioral abnormalities in zebrafish larvae / Joris Probst, Stefan Kölker, Jürgen G. Okun, Amrish Kumar, Eduard Gursky, Roland Posset, Georg F. Ho… , 25 April 2020. - 12 S.
In: Experimental neurology, ISSN 1090-2430. 331(2020) Artikel-Nummer 113330, 12 Seiten
DOI: 10.1016/j.expneurol.2020.113330
Hillert, Alicia: The genetic landscape and epidemiology of phenylketonuria / Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Ca… , 14 July 2020. - 17 S.
In: The American journal of human genetics, ISSN 1537-6605. 107(2020), 2, Seite 234-250
DOI: 10.1016/j.ajhg.2020.06.006
Klinke, Glynis: Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform / Glynis Klinke, Sylvia Richter, Péter Monostori, Brigitte Schmidt‐Mader, Angels García‐Cazorla, Rafae… , 13 January 2020. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 43(2020), 4, Seite 712-725
DOI: 10.1002/jimd.12213
Weigand, Tim: A global Cndp1-knock-out selectively increases renal carnosine and anserine concentrations in an age- and gender-specific manner in mice / Tim Weigand, Florian Colbatzky, Tilman Pfeffer, Sven F. Garbade, Kristina Klingbeil, Florian Colbatz… , 10 July 2020. - 20 S.
In: International journal of molecular sciences, ISSN 1422-0067. 21(2020), 14, Artikel-ID 4887, Seite 1-20
DOI: 10.3390/ijms21144887
Westhoff, Jens: In vivo high-content screening in zebrafish for developmental nephrotoxicity of approved drugs / Jens H. Westhoff, Petrus J. Steenbergen, Laurent S. V. Thomas, Jana Heigwer, Thomas Bruckner, Ledean… , 10 July 2020. - 15 S.
In: Frontiers in cell and developmental biology, ISSN 2296-634X. 8(2020) Artikel-Nummer 583, 15 Seiten
DOI: 10.3389/fcell.2020.00583
Opladen, Thomas: Correction to : Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Y… , 05 August 2020. - 5 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 202, Seite 1-5
DOI: 10.1186/s13023-020-01464-y
Opladen, Thomas: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Y… , 26 May 2020. - 30 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 126, Seite 1-30
DOI: 10.1186/s13023-020-01379-8
Poisa-Beiro, Laura: Glycogen accumulation, central carbon metabolism, and aging of hematopoietic stem and progenitor cells / Laura Poisa-Beiro, Judith Thoma, Jonathan Landry, Sven Sauer, Akihisa Yamamoto, Volker Eckstein, Nat… , 14 July 2020
In: Scientific reports, ISSN 2045-2322. 10(2020) Artikel-Nummer 11597, 11 Seiten
DOI: 10.1038/s41598-020-68396-2
Choukair, Daniela: Identification of transient receptor potential channel 4-associated protein as a novel candidate gene causing congenital primary hypothyroidism / Daniela Choukair, Birgit Eberle, Philipp Vick, Pia Hermanns, Birgit Weiss, Nagarajan Paramasivam, Ma… , May 19, 2020. - 14 S.
In: Hormone research in paediatrics, ISSN 1663-2826. 93(2020), 1, Seite 16-29
DOI: 10.1159/000507114
Garbade, Sven: FDA orphan drug designations for lysosomal storage disorders : a cross-sectional analysis / Sven F. Garbade, Matthias Zielonka, Konstantin Mechler, Stefan Kölker, Georg F. Hoffmann, Christian … , April 8, 2020
In: PLOS ONE, ISSN 1932-6203. 15(2020,4) Artikel-Nummer e0230898, 12 Seiten
DOI: 10.1371/journal.pone.0230898
Grünert, Sarah: Primary carnitine deficiency : diagnosis after heart transplantation : better late than never! / Sarah C. Grünert, Sara Tucci, Anke Schumann, Meike Schwendt, Gwendolyn Gramer, Georg F. Hoffmann, Mi… , 10 April 2020. - 6 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 87, Seite 1-6
DOI: 10.1186/s13023-020-01371-2
Kovacevic, Alexander: Cardiac phenotype in propionic acidemia : results of an observational monocentric study / A. Kovacevic, S.F. Garbade, G.F. Hoffmann, M. Gorenflo, S. Koelker, C. Staufner, 10 February 2020. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 130(2020), 1, Seite 41-48
DOI: 10.1016/j.ymgme.2020.02.004
Cannet, Claire: Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls : results of NMR metabolomics investigation / Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Pet… , 27 February 2020. - 7 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 61, Seite 1-7
DOI: 10.1186/s13023-020-1329-5
Zielonka, Matthias: Early prediction of phenotypic severity in Citrullinemia Type 1 / Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C.S. Nagamani, Andr… , 30 August 2019. - 14 S.
In: Annals of Clinical and Translational Neurology, ISSN 2328-9503. 6(2019), 9, Seite 1858-1871
DOI: 10.1002/acn3.50886
Hoffmann, Georg F.: Neurometabolic hereditary diseases of adults / Georg F. Hoffmann, 13 February 2019. - 1 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 2, Seite 389-389
DOI: 10.1002/jimd.12074
Brennenstuhl, Heiko: High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots / Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, Sven F. Garbade, Steffen Syrbe, Patrik Feyh, … , 2020. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 43(2020), 3, Seite 602-610
DOI: 10.1002/jimd.12208
Gramer, Gwendolyn: Newborn screening for vitamin B12 deficiency in Germany : strategies, results, and public health implications / Gwendolyn Gramer, MD, Junmin Fang-Hoffmann, MD, Patrik Feyh, Glynis Klinke, PhD, Peter Monostori, Ph… , 2020. - 12 S.
In: The journal of pediatrics, ISSN 1097-6833. 216(2020) Artikel-Nummer 165-172.e4, 12 Seiten
DOI: 10.1016/j.jpeds.2019.07.052
Staufner, Christian: Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients / Christian Staufner, MD, Bianca Peters, Matias Wagner, MD, Seham Alameer, MD, Ivo Barić, MD, PhD, Pie… , 2020. - 12 S.
In: Genetics in medicine, ISSN 1530-0366. 22(2020), 3, Seite 610-621
DOI: 10.1038/s41436-019-0698-4
Hoffmann, Georg F.: Metabolische Erkrankungen / G.F. Hoffmann, 2019. - 33 S. : Illustrationen
In: Pädiatrie. (2019), Seite 41-73
Himmelreich, Nastassja: Aromatic amino acid decarboxylase deficiency : Molecular and metabolic basis and therapeutic outlook / Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, Carla Carducci, Vincenzo Leuzzi, Corin… , 27 March 2019
In: Molecular genetics and metabolism, ISSN 1096-7206. 127(2019), 1, Seite 12-22
DOI: 10.1016/j.ymgme.2019.03.009
Ferreira Lopez, Carlos R: Clinical and biochemical footprints of inherited metabolic diseases : I. Movement disorders / Carlos R. Ferreira, Georg F. Hoffmann, Nenad Blau, 26 March 2019. - 3 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 127(2019), 1, Seite 28-30
DOI: 10.1016/j.ymgme.2019.03.007
Iuso, Arcangela: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy / Arcangela Iuso, Bader Alhaddad, Corina Weigel, Urania Kotzaeridou, Elisa Mastantuono, Thomas Schwarz… , 2019. - 7 S.
In: JIMD reports, ISSN 2192-8312. 44(2019), Seite 1-7
DOI: 10.1007/8904_2018_115
Himmelreich, Nastassja: Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus / Nastassja Himmelreich, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Anna-Marlen Hutter, Lars… , 08 May 2019. - 14 S.
In: Human mutation, ISSN 1098-1004. 40(2019), 7, Seite 938-951
DOI: 10.1002/humu.23764
Al-Dirbashi, Osama Y.: Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism / Osama Y. Al-Dirbashi, Majid Alfadhel, Khalid Al-Thihli, Nahid Al Dhahouri, Claus-Dieter Langhans, Za… , 26 August 2019. - 7 S.
In: Scientific reports, ISSN 2045-2322. 9(2019) Artikel-Nummer 12366, 7 Seiten
DOI: 10.1038/s41598-019-48885-9
Lehmann, Ronny: Pediatric in-hospital emergencies : real life experiences, previous training and the need for training among physicians and nurses / Ronny Lehmann, Anke Seitz, Jochen Meyburg, Bettina Hoppe, Georg Friedrich Hoffmann, Burkhard Tönshof… , 14 January 2019
In: BMC Research Notes, ISSN 1756-0500. 12(2019) Artikel-Nummer 19, 7 Seiten
DOI: 10.1186/s13104-019-4051-4
Posset, Roland: Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders : a successful strategy for clinical research of rare diseases / Roland Posset, Sven F. Garbade, Nikolas Boy, Alberto B. Burlina, Carlo Dionisi‐Vici, Dries Dobbelaer… , 11 February 2019. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 93-106
DOI: 10.1002/jimd.12031
Posset, Roland: Impact of diagnosis and therapy on cognitive function in urea cycle disorders / Roland Posset, Andrea L. Gropman, Sandesh C. S. Nagamani, Lindsay C. Burrage, Jirair K. Bedoyan, Der… , July 2019. - 13 S.
In: Annals of neurology, ISSN 1531-8249. 86(2019), 1, Seite 116-128
DOI: 10.1002/ana.25492
Saffari, Afshin: Gentherapien für neuromuskuläre Erkrankungen / Afshin Saffari, Markus Weiler, Georg Friedrich Hoffmann, Andreas Ziegler, 8. Juli 2019. - 8 S.
In: Der Nervenarzt, ISSN 1433-0407. 90(2019), 8, Seite 809-816
DOI: 10.1007/s00115-019-0761-z
Breuer, Maximilian: QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis / Maximilian Breuer, Luca Guglielmi, Matthias Zielonka, Verena Hemberger, Stefan Kölker, Jürgen G. Oku… , April 17, 2019. - 19 S.
In: PLOS ONE, ISSN 1932-6203. 14(2019,4) Artikel-Nummer e0215162, 19 Seiten
DOI: 10.1371/journal.pone.0215162
Yakovenko, Vira: Risk factors for childhood overweight and obesity in Ukraine and Germany / Vira Yakovenko, Laura Henn, Markus Bettendorf, Natalia Zelinska, Galyna Soloviova, Georg F. Hoffmann… , 2019. - 6 S.
In: Journal of clinical research in pediatric endocrinology, ISSN 1308-5735. 11(2019), 3, Seite 247-252
DOI: 10.4274/jcrpe.galenos.2019.2018.0157
Saffari, Afshin: Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study / Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Mat… , 03 May 2019. - 13 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 14(2019), Artikel-ID 96, Seite 1-13
DOI: 10.1186/s13023-019-1077-6
Pilotto, Andrea: Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria / Andrea Pilotto, Nenad Blau, Edytha Leks, Claudia Schulte, Christian Deuschl, Carl Zipser, David Piel… , 01 February 2019. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 3, Seite 398-406
DOI: 10.1002/jimd.12049
Cousin, Margot: RINT1 bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities / Margot A. Cousin, Erin Conboy, Jian-She Wang, Dominic Lenz, Tanya L. Schwab, Monique Williams, Roshi… , 2019. - 14 S.
In: The American journal of human genetics, ISSN 1537-6605. 105(2019), 1, Seite 108-121
DOI: 10.1016/j.ajhg.2019.05.011
Saffari, Afshin: Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age : a multicenter retrospective study / Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Mat… . -
London: BioMed Central, 2019. - 1 Online-Ressource
Monostori, Péter: Extended diagnosis of purine and pyrimidine disorders from urine : LC MS/MS assay development and clinical validation / Péter Monostori, Glynis Klinke, Jana Hauke, Sylvia Richter, Jörgen Bierau, Sven F. Garbade, Georg F.… , February 28, 2019. - 17 S.
In: PLOS ONE, ISSN 1932-6203. 14(2019,2) Artikel-Nummer e0212458, 17 Seiten
DOI: 10.1371/journal.pone.0212458
Zielonka, Matthias: Ultra-orphan lysosomal storage diseases : a cross-sectional quantitative analysis of the natural history of alpha-mannosidosis / Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Markus Ries, 20 June 2019. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 5, Seite 975-983
DOI: 10.1002/jimd.12138
Teufel-Schäfer, Ulrike: High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders / Ulrike Teufel, Peter Burgard, Jochen Meyburg, Martin Lindner, Johannes Poeschl, Peter Ruef, Georg F.… . -
London: BioMed Central, 17 Jun. 2019. - 1 Online-Ressource (7 Seiten)
DOI: 10.1186/s13023-019-1055-z
Teufel-Schäfer, Ulrike: High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders / Ulrike Teufel, Peter Burgard, Jochen Meyburg, Martin Lindner, Johannes Poeschl, Peter Ruef, Georg F.… , 8 April 2019. - 7 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 14(2019), Artikel-ID 80, Seite 1-7
DOI: 10.1186/s13023-019-1055-z
Lenz, Dominic: Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 / Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, … , 22 March 2019
In: Stem cell research, ISSN 1876-7753. 37(2019) Artikel-Nummer 101428, 5 Seiten
DOI: 10.1016/j.scr.2019.101428
Sláma, Tomáš: Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis : a cross-sectional study / Tomáš Sláma, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Markus Ries, 2019. - 8 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 2, Seite 295-302
DOI: 10.1002/jimd.12010
Komatsuzaki, Shoko: Clinical characteristics of 248 patients with Krabbe disease : quantitative natural history modeling based on published cases / Shoko Komatsuzaki MD, PhD, Matthias Zielonka MD, William K. Mountford PhD, Stefan Kölker MD, Georg F… , 22 March 2019
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 10, Seite 2208-2215
DOI: 10.1038/s41436-019-0480-7
Lehmann, Ronny: Pediatric in-hospital emergencies : real life experiences, previous training and the need for training among physicians and nurses / Ronny Lehmann, Anke Seitz, Jochen Meyburg, Bettina Hoppe, Georg Friedrich Hoffmann, Burkhard Tönshof… . -
London: BioMed Central, 2019. - 1 Online-Ressource
DOI: 10.1186/s13104-019-4051-4
Lenz, Dominic: Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS : DHMCi004-A / Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, … , 11 February 2019. - 4 S.
In: Stem cell research, ISSN 1876-7753. 35(2019) Artikel-Nummer 101398, 4 Seiten
DOI: 10.1016/j.scr.2019.101398
Zielonka, Matthias: Bioenergetic dysfunction in a zebrafish model of acute hyperammonemic decompensation / Matthias Zielonka, Joris Probst, Matthias Carl, Georg Friedrich Hoffmann, Stefan Kölker, Jürgen Günt… , 14 January 2019. - 9 S.
In: Experimental neurology, ISSN 1090-2430. 314(2019), Seite 91-99
DOI: 10.1016/j.expneurol.2019.01.008
Puusepp, Sanna: Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency / Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F. Hoffmann, Urania Kotza… , 17 January 2018. - 13 S.
In: European journal of human genetics, ISSN 1476-5438. 26(2018), 3, Seite 407-419
DOI: 10.1038/s41431-017-0001-6
Al Dhahouri, Nahid: Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias / Nahid Al Dhahouri, Claus-Dieter Langhans, Zalikha Al Hammadi, Jürgen G. Okun, Georg F. Hoffmann, Fat… , 11 September 2018. - 5 S.
In: Clinica chimica acta, ISSN 1873-3492. 487(2018), Seite 41-45
DOI: 10.1016/j.cca.2018.09.017
Wolf, Nicole: ATAD1 encephalopathy and stiff baby syndrome : a recognizable clinical presentation / Nicole I. Wolf, Johannes Zschocke, Cornelis Jakobs, Dietz Rating, Georg F. Hoffmann, 12 April 2018. - 2 S.
In: Brain, ISSN 1460-2156. 141(2018,6) Artikel-Nummer e49, 2 Seiten
DOI: 10.1093/brain/awy095
Dimitrov, Bianca: Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG / Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G.… , 2018. - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 123(2018), 3, Seite 364-374
DOI: 10.1016/j.ymgme.2018.01.008
Lenz, Dominic: SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) / Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E. Bonnen, Giusy Ranucci, Christian Thiel, Bea… , 08 February 2018. - 11 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 10, Seite 1255-1265
DOI: 10.1038/gim.2017.260
Iuso, Arcangela: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy / Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode-Shakked, Dina Marek-Yagel, Mathias Gr… , May 10, 2018. - 13 S.
In: The American journal of human genetics, ISSN 1537-6605. 102(2018), 6, Seite 1018-1030
DOI: 10.1016/j.ajhg.2018.03.022
Patry, Christian: Endothelial progenitor cells accelerate endothelial regeneration in an in vitro model of Shigatoxin-2a-induced injury via soluble growth factors / Christian Patry, Christian Betzen, Farnoosh Fathalizadeh, Alexander Fichtner, Jens H. Westhoff, Thom… , [2018]. - 9 S. : Illustrationen
In: American journal of physiology, ISSN 1522-1466. 315(2018), 4, Seite F861-F869
DOI: 10.1152/ajprenal.00633.2017
Himmelreich, Nastassja: Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria / Nastassja Himmelreich, Nan Shen, Jürgen G. Okun, Christian Thiel, Georg F. Hoffmann, Nenad Blau, 23 June 2018. - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 125(2018), 1, Seite 86-95
DOI: 10.1016/j.ymgme.2018.06.011
Shibata, Naoaki: Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries : Selective screening vs. expanded newborn screening / Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, V… , 21 May 2018. - 6 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 16(2018), Seite 5-10
DOI: 10.1016/j.ymgmr.2018.05.003f per
Boy, Nikolas: Newborn screening : a disease-changing intervention for glutaric aciduria type 1 / Nikolas Boy, Katharina Mengler, Eva Thimm, Katharina A. Schiergens, Thorsten Marquardt, Natalie Wein… , 17 April 2018. - 10 S.
In: Annals of neurology, ISSN 1531-8249. 83(2018), 5, Seite 970-979
DOI: 10.1002/ana.25233
Garbade, Sven: Allelic phenotype values : a model for genotype-based phenotype prediction in phenylketonuria / Sven F. Garbade, Nan Shen, Nastassja Himmelreich, Dorothea Haas, Friedrich K. Trefz, Georg F. Hoffma… , 2019. - 11 S.
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 3, Seite 580-590
DOI: 10.1038/s41436-018-0081-x
Gramer, Gwendolyn: High incidence of maternal vitamin B12 deficiency detected by newborn screening : first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel / Gwendolyn Gramer, Junmin Fang-Hoffmann, Patrik Feyh, Glynis Klinke, Peter Monostori, Jürgen G. Okun,… , 15 June 2018. - 12 S.
In: World journal of pediatrics, ISSN 1867-0687. 14(2018), 5, Seite 470-481
DOI: 10.1007/s12519-018-0159-1
Gramer, Gwendolyn: Früherkennung eines Vitamin-B12-Mangels im Neugeborenenscreening / G. Gramer, G.F. Hoffmann, 05 January 2018. - 2 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 166(2018), 2, Seite 152-153
Saffari, Afshin: Novel challenges in spinal muscular atrophy : How to screen and whom to treat? / Afshin Saffari, Stefan Kölker, Georg F. Hoffmann, Markus Weiler & Andreas Ziegler, 2019. - 9 S.
In: Annals of Clinical and Translational Neurology, ISSN 2328-9503. 6(2019), 1, Seite 197-205
DOI: 10.1002/acn3.689
Zielonka, Matthias: A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease : an ultra-orphan multisystemic lysosomal storage disorder / Matthias Zielonka MD, Sven F. Garbade PhD, Stefan Kölker MD, Georg F. Hoffmann MD & Markus Ries MD, … , 2019. - 6 S.
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 2, Seite 347-352
DOI: 10.1038/s41436-018-0051-3
Zielonka, Matthias: Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase / Matthias Zielonka, Maximilian Breuer, Jürgen Günther Okun, Matthias Carl, Georg Friedrich Hoffmann, … , September 10, 2018. - 24 S.
In: PLOS ONE, ISSN 1932-6203. 13(2018), 9, Artikel-ID e0203707
DOI: 10.1371/journal.pone.0203707
Patry, Christian: Cross-sectional analysis on publication status and age representation of clinical studies addressing mechanical ventilation and ventilator-induced lung injury in infants and children / Christian Patry, Simon Kranig, Neysan Rafat, Thomas Schaible, Burkhard Toenshoff, Georg F. Hoffmann,… , November 18, 2018. - 11 S.
In: BMJ open, ISSN 2044-6055. 8(2018), 11, Artikel-ID e023524
DOI: 10.1136/bmjopen-2018-023524
Meyburg, Jochen: Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders / Jochen Meyburg, Thomas Opladen, Ute Spiekerkötter, Andrea Schlune, Jens-Peter Schenk, Jan Schmidt, J… , January 2018. - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 41(2018), 1, Seite 81-90
DOI: 10.1007/s10545-017-0097-4
Breil, Thomas: Publication status of completed registered studies in paediatric appendicitis : a cross-sectional analysis / Thomas Breil, Michael Boettcher, Georg F. Hoffmann, Markus Ries, July 16, 2018. - 7 S.
In: BMJ open, ISSN 2044-6055. 8(2018,7) Artikel-Nummer e021684, 7 Seiten
DOI: 10.1136/bmjopen-2018-021684
Spronsen, F. J. van: Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia : from attention deficit to severe dystonia and intellectual disability / Francjan J. van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, Nan Shen, Danique van Vliet, M… , 2018. - 5 S.
In: Journal of medical genetics, ISSN 1468-6244. 55(2018), 4, Seite 249-253
DOI: 10.1136/jmedgenet-2017-104875
Blau, Nenad: DNAJC12 deficiency : A new strategy in the diagnosis of hyperphenylalaninemias / Nenad Blau, Aurora Martinez, Georg F. Hoffmann, Beat Thöny, 2018. - 5 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 123(2018), 1, Seite 1-5
DOI: 10.1016/j.ymgme.2017.11.005
Simm, Franziska: Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency / Franziska Simm, Anne Griesbeck, Daniela Choukair, Birgit Weiß, Nagarajan Paramasivam, Jürgen Klammt,… , 2018. - 9 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 7, Seite 728-736
DOI: 10.1038/gim.2017.165
Gramer, Gwendolyn: 50 Jahre Neugeborenenscreening in Deutschland : Bisherige Ergebnisse und zukünftige Herausforderungen / G. Gramer, U. Nennstiel-Ratzel, G.F. Hoffmann, 2018. - 7 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 166(2018), 11, Seite 987-993
DOI: 10.1007/s00112-017-0355-4
El-Hattab, Ayman W.: Molecular and clinical spectra of FBXL4 deficiency / Ayman W. El‐Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A. Faqeih, Ali Al Asmari, Mo… , December 2017. - 11 S.
In: Human mutation, ISSN 1098-1004. 38(2017), 12, Seite 1649-1659
DOI: 10.1002/humu.23341
Inta, Ioana: Pediatric use of tetracyclines : focus on neurodevelopmental effects / Ioana Inta, Georg F. Hoffmann and Markus Bettendorf, November 2017. - 2 S.
In: Pediatric research, ISSN 1530-0447. 82(2017), Seite 725-726
DOI: 10.1038/pr.2017.167
Workshop for Pediatric Research <52., 2016, Frankfurt am Main>: Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016 / Rhea van den Bruck, Patrick P. Weil, Thomas Ziegenhals, Philipp Schreiner, Stefan Juranek, Daniel Gö… , 10 May 2017. - 9 S.
In: Molecular and Cellular Pediatrics, ISSN 2194-7791. 4(2017), Suppl. 1, Artikel-ID 5, Seite 1-9
DOI: 10.1186/s40348-017-0071-0
Evers, Christina: Impact of clinical exomes in neurodevelopmental and neurometabolic disorders / Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lili… . - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 121(2017), 4, S. 297-307
DOI: 10.1016/j.ymgme.2017.06.014
Huwendiek, Sören: Electronic assessment of clinical reasoning in clerkships : a mixed-methods comparison of long-menu key-feature problems with context-rich single best answer questions / Sören Huwendiek, Friedrich Reichert, Cecilia Duncker, Bas A. de Leng, Cees P.M. van der Vleuten, Arn… . - 10 S.
In: Medical teacher, ISSN 1466-187X. 39(2017), 5, S. 476-485
DOI: 10.1080/0142159X.2017.1297525
Mechler, Konstantin: Defining the hidden evidence in autism research : forty per cent of rigorously designed clinical trials remain unpublished$da cross-sectional analysis / Konstantin Mechler, Georg F. Hoffmann, Ralf W. Dittmann, Markus Ries, 2017. - 7 S.
In: International journal of methods in psychiatric research, ISSN 1557-0657. 26 (2017,4) Artikel-Nummer e1546, 7 Seiten
DOI: 10.1002/mpr.1546
Zielonka, Matthias: A cross-sectional quantitative analysis of the natural history of Farber disease : an ultra-orphan condition with rheumatologic and neurological cardinal disease features / Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann & Markus Ries, 2018. - 7 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 5, Seite 524-530
DOI: 10.1038/gim.2017.133
Zielonka, Matthias: Quantitative clinical characteristics of 53 patients with MPS VII : a cross-sectional analysis / Matthias Zielonka MD, Sven F. Garbade PhD, Stefan Kölker MD, Georg F. Hoffmann MD & Markus Ries MD, … , 06 April 2017. - 6 S.
In: Genetics in medicine, ISSN 1530-0366. 19(2017), 9, Seite 983-988
DOI: 10.1038/gim.2017.10
Zielonka, Matthias: Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis / Matthias Zielonka, MD, Sven F. Garbade, PhD, Stefan Kölker, MD, Georg F. Hoffmann, MD and Markus Rie… , 2018. - 1 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 4, Seite 474
DOI: 10.1038/gim.2017.87
Sommerburg, Olaf: Neugeborenenscreening auf Mukoviszidose in Deutschland : Vergleich des neuen Screening-Protokolls mit einem Alternativprotokoll = / Olaf Sommerburg, Mirjam Stahl, Jutta Hammermann, Jürgen G. Okun, Andreas Kulozik, Georg Hoffmann, Ma… , 25. April 2017. - 8 S.
In: Klinische Pädiatrie, ISSN 1439-3824. 229(2017), 2, Seite 59-66
DOI: 10.1055/s-0042-124187
Grüters-Kieslich, Annette: Zentren für seltene Erkrankungen / A. Grüters-Kieslich, P. Burgard, R. Berner, G.F. Hoffmann, 20. Februar 2017. - 5 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 165(2017), 3, Seite 211-215
DOI: 10.1007/s00112-017-0246-8
Tagliaferri, Laura: Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC) / Laura Tagliaferri, Joachim B. Kunz, Margit Happich, Susanna Esposito, Thomas Bruckner, Daniel Hübsch… , 2017. - 5 S.
In: Clinical immunology, ISSN 1521-7035. 175(2017), Seite 51-55
DOI: 10.1016/j.clim.2016.11.016
Syrbe, Steffen: Delineating SPTAN1 associated phenotypes : from isolated epilepsy to encephalopathy with progressive brain atrophy / Steffen Syrbe, Frederike L. Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L. Helb… , 2017. - 15 S.
In: Brain, ISSN 1460-2156. 140(2017), 9, Seite 2322-2336
DOI: 10.1093/brain/awx195
Hinderhofer, Katrin: Critical appraisal of genotype assessment in molybdenum cofactor deficiency / Katrin Hinderhofer, Konstantin Mechler, Georg F. Hoffmann, Anette Lampert, William K. Mountford, Mar… , 2017. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 40(2017), 6, Seite 801-811
DOI: 10.1007/s10545-017-0077-8
Saffari, Afshin: Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases / Afshin Saffari, Stefan Kölker, Georg F. Hoffmann, Darius Ebrahimi-Fakhari. - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 40(2017), 5, S. 631-640
DOI: 10.1007/s10545-017-0048-0
Burgard, Peter: Issues with European guidelines for phenylketonuria / Peter Burgard, Kurt Ullrich, Diana Ballhausen, Julia B Hennermann, Carla E M Hollak, Mirjam Langevel… . - 3 S.
In: The lancet, ISSN 2213-8595. 5(2017), 9, S. 681-683
DOI: 10.1016/S2213-8587(17)30201-2
Hoffmann, Georg F.: Seltene Erkrankungen und molekulargenetische Diagnostik / G.F. Hoffmann, F. Zepp. - 2 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 165(2017), 3, S. 200-201
DOI: 10.1007/s00112-017-0242-z
Grass, Lilian: Point shear wave elastography (pSWE) using Acoustic Radiation Force Impulse (ARFI) imaging : a feasibility study and norm values for renal parenchymal stiffness in healthy children and adolescents / Lilian Grass, Nora Szekely, Abdulsattar Alrajab, Thi Thanh Tam Bui-Ta, Georg Friedrich Hoffmann, Elk… , 2017. - 8 S.
In: Medical ultrasonography, ISSN 2066-8643. 19(2017), 4, Seite 366-373
DOI: 10.11152/mu-1078
Gramer, Gwendolyn: Newborn screening for remethylation disorders and vitamin B<Subscript>12</Subscript> deficiency-evaluation of new strategies in cohorts from Qatar and Germany / Gwendolyn Gramer, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Rehab Ali, Laila Mahmoud, Junmin … . - 8 S.
In: World journal of pediatrics, ISSN 1867-0687. 13(2017), 2, S. 136-143
DOI: 10.1007/s12519-017-0003-z
Gramer, Gwendolyn: Neugeborenenscreening 2020 : Perspektiven der Krankheitsfrüherkennung / G. Gramer, F. Hauck, S. Lobitz, O. Sommerburg, C. Speckmann, G. F. Hoffmann. - 10 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 165(2017), 3, S. 216-225
DOI: 10.1007/s00112-016-0233-5
Monostori, Péter: Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots : Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders / Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R. Baumgartne… , September 15, 2017. - 16 S.
In: PLOS ONE, ISSN 1932-6203. 12(2017,9) Artikel-Nummer e0184897, 16 Seiten
DOI: 10.1371/journal.pone.0184897
Bener, Abdulbari: Iron and vitamin D levels among autism spectrum disorders children / Abdulbari Bener, Azhar Khattab, Dinesh Bhugra, Georg Hoffmann. - 6 S.
In: Annals of African medicine, ISSN 0975-5764. 16(2017), 4, S. 186-191
DOI: 10.4103/aam.aam_17_17
Rath, Matthias: Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease / Matthias Rath, G. Christoph Korenke, Juliane Najm, Georg F. Hoffmann, Angela Hagendorff, Tim M. Stro… , 22 June 2017. - 2 S.
In: Journal of the neurological sciences, ISSN 1878-5883. 379(2017), Seite 296-297
DOI: 10.1016/j.jns.2017.06.034
Nettesheim, Susanne: Incidence, disease onset and short-term outcome in urea cycle disorders - cross-border surveillance in Germany, Austria and Switzerland / Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffman… , 15 June 2017
In: Orphanet journal of rare diseases, ISSN 1750-1172. 12(2017) Artikel-Nummer 111, 8 Seiten
DOI: 10.1186/s13023-017-0661-x
Zschocke, Johannes: Vademecum Metabolicum : Diagnostic et Traitement des Maladies Héréditaires du Métabolisme / Johannes Zschocke, Innsbruck, Austriche ; Georg F. Hoffmann, Heidelberg, Allemagne. - 2ème édition. -
[Stuttgart]: Schattauer, [2017]. - X, 173 Seiten : Diagramme, ISBN 978-3-7945-3238-4
Inherited metabolic diseases : a clinical approach / Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors. - Second edition. -
Berlin ; Heidelberg: Springer, [2017]. - xvii, 605 Seiten : Illustrationen, ISBN 978-3-662-49408-0
Inherited metabolic diseases : a clinical approach / Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors. - second edition. -
Berlin ; Heidelberg: Springer, [2017]. - 1 Online-Ressource (XVII, 605 Seiten) : Illustrationen, ISBN 978-3-662-49410-3
(SpringerLink : Bücher)
(Springer eBook Collection : Medicine)
DOI: 10.1007/978-3-662-49410-3
Nettesheim, Susanne: Incidence, disease onset and short-term outcome in urea cycle disorders - cross-border surveillance in Germany, Austria and Switzerland / Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffman… . -
London: BioMed Central, 15 June 2017. - 1 Online-Ressource (8 Seiten)
DOI: 10.1186/s13023-017-0661-x
Wassenberg, Tessa: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency / Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau,… . -
London: BioMed Central, 18 January 2017. - 1 Online-Ressource (21 Seiten) : Diagramme
DOI: 10.1186/s13023-016-0522-z
Wassenberg, Tessa: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency / Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau,… , 18 January 2017
In: Orphanet journal of rare diseases, ISSN 1750-1172. 12(2017) Artikel-Nummer 12, 21 Seiten
DOI: 10.1186/s13023-016-0522-z
Peters, Verena: Qualitative urinary organic acid analysis : 10 years of quality assurance / Verena Peters, James R. Bonham, Georg F. Hoffmann, Camilla Scott, Claus-Dieter Langhans, 4 May 2016. - 5 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 5, Seite 683-687
DOI: 10.1007/s10545-016-9941-1
Gramer, Gwendolyn: Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria / Gwendolyn Gramer, Gisela Haege, Claus-Dieter Langhans, Vera Schuhmann, Peter Burgard, Georg F. Hoffm… , 18 April 2016. - 6 S.
In: Prostaglandins, leukotrienes and essential fatty acids, ISSN 1532-2823. 109(2016), Seite 52-57
DOI: 10.1016/j.plefa.2016.04.005
Weidler, Sophia: A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening / Sophia Weidler, Konrad H. Stopsack, Jutta Hammermann, Olaf Sommerburg, Marcus A. Mall, Georg F. Hoff… , 22 July 2016. - 7 S.
In: Journal of cystic fibrosis, ISSN 1873-5010. 15(2016), 6, Seite 752-758
DOI: 10.1016/j.jcf.2016.07.002
Ebrahimi-Fakhari, Darius: Impaired mitochondrial dynamics and mitophagy in neuronal models of tuberous sclerosis complex / Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Alessia Di Nardo, Daria Turner, Tommy L. Lew… , November 15, 2016. - 1 S.
In: Cell reports, ISSN 2211-1247. 17(2016), 8, Seite 2162
DOI: 10.1016/j.celrep.2016.10.051
Shen, Nan: Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation / Nan Shen, Caroline Heintz, Christian Thiel, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau, 12 January 2016. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 117(2016), 3, Seite 328-335
DOI: 10.1016/j.ymgme.2016.01.004
Kremer, Laura S.: Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy / Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chr… , January 21, 2016. - 5 S.
In: The American journal of human genetics, ISSN 1537-6605. 98(2016), 2, Seite 358-362
DOI: 10.1016/j.ajhg.2015.12.009
Lampert, Anette: Ten years after the international committee of medical journal editors’ clinical trial registration initiative, one quarter of phase 3 pediatric epilepsy clinical trials still remain unpublished : a cross sectional analysis / Anette Lampert, Georg F. Hoffmann, Markus Ries, January 6, 2016. - 12 S.
In: PLOS ONE, ISSN 1932-6203. 11(2016,1) Artikel-Nummer e0144973, 12 Seiten
DOI: 10.1371/journal.pone.0144973
Stockklausner, Clemens: Novel treatments for rare cancers : the U.S. orphan drug act is delivering : a cross-sectional analysis / Clemens Stockklausner, Anette Lampert, Georg F. Hoffmann, Markus Ries, 2016 Mar 28. - 7 S.
In: The oncologist, ISSN 1549-490X. 21(2016), 4, Seite 487-493
DOI: 10.1634/theoncologist.2015-0397
Lutz, Thomas: Novel treatments for rare rheumatologic disorders : analysis of the impact of 30 years of the US orphan drug act / Thomas Lutz, Anette Lampert, Georg F. Hoffmann, and Markus Ries, 2016 May 12. - 8 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 11(2016), Artikel-ID 60, Seite 1-8
DOI: 10.1186/s13023-016-0443-x
Byrne, Susan: EPG5-related Vici syndrome : a paradigm of neurodevelopmental disorders with defective autophagy / Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, Ata Siddiqui Hart, G.W. Lidov, Istvan Bodi, Luke Smi… , 17 February 2016. - 17 S.
In: Brain, ISSN 1460-2156. 139(2016), 3, Seite 765-781
DOI: 10.1093/brain/awv393
Biederer, Jürgen: Deutsches Zentrum für Lungenforschung (DZL) : Schlussbericht : Förderperiode: 1.10.2011-31.12.2015 / Standort: Translational Lung Research Center Heidelberg, Partner: Universitätsklinikum Heidelberg & … . -
Heidelberg: Universitätsklinikum Heidelberg, [2016?]. - 1 Online-Ressource (97 Seiten, 899 KB)
DOI: 10.2314/GBV:873672542
Biederer, Jürgen: Deutsches Zentrum für Lungenforschung (DZL) : Schlussbericht : Förderperiode: 1.10.2011-31.12.2015 / Standort: Translational Lung Research Center Heidelberg, Partner: Universitätsklinikum Heidelberg & … . -
Heidelberg: Universitätsklinikum Heidelberg, [2016?]. - 94, 2 ungezählte Blätter
Haute, Lindsey van: Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3 / Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. P… , 30 Jun 2016. - 10 S.
In: Nature Communications, ISSN 2041-1723. 7(2016) Article number: 12039, 10 Seiten
DOI: 10.1038/ncomms12039
Staufner, Christian: MRI and 1H-MRS in adenosine kinase deficiency / C. Staufner, H.J. Blom, C. Dionisi-Vici, P. Freisinger, N. Makhseed, D. Ballhausen, S. Kölker, G.F. … . - 7 S.
In: Neuroradiology, ISSN 1432-1920. 58(2016), 7, S. 697-703
DOI: 10.1007/s00234-016-1676-z
Leuzzi, Vincenzo: Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B / Vincenzo Leuzzi, Mario Mastrangelo, Maria Teresa Giannini, Riccardo Carbonetti, Georg F. Hoffmann, 2017. - 2 S.
In: Neurology, ISSN 1526-632X. 88(2017), 5, Seite 501-502
DOI: 10.1212/WNL.0000000000003539
Sommerburg, Olaf: Das Mukoviszidosescreening wird in Deutschland eingeführt : was müssen die Pädiater in der Praxis wissen? / O. Sommerburg, B. Lawrenz, M.A. Mall, G.F. Hoffmann, Screening-Kommission der Deutschen Gesellschaft… , 2017. - 6 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 165(2017), 1, Seite 49-54
DOI: 10.1007/s00112-016-0216-6
Choukair, Daniela: Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography / Daniela Choukair, Carolin Kneppo, Reinhard Feneberg, Eckhard Schönau, Martin Lindner, Stefan Kölker,… , 2017. - 8 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 40(2017), 2, Seite 219-226
DOI: 10.1007/s10545-016-0002-6
Boy, Nikolas: Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I : second revision / Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Jana Heringer, Birgit Assmann, Peter Burgard, Marjor… , 2017. - 27 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 40(2017), 1, Seite 75-101
DOI: 10.1007/s10545-016-9999-9
Kopajtich, Robert: Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy / Robert Kopajtich, Kei Murayama, Andreas R. Janecke, Tobias B. Haack, Maximilian Breuer, A.S. Knisely… , 14 July 2016. - 9 S.
In: The American journal of human genetics, ISSN 1537-6605. 99(2016), 2, Seite 414-422
DOI: 10.1016/j.ajhg.2016.05.027
Unsinn, Caroline: Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013 / Caroline Unsinn, Anibh Das, Vassili Valayannopoulos, Eva Thimm, Skadi Beblo, Alberto Burlina, Vassil…
In: Orphanet journal of rare diseases, ISSN 1750-1172. 11(2016) Artikel-Nummer 116, 11 Seiten
DOI: 10.1186/s13023-016-0493-0
Peters, Verena: CNDP1 genotype and renal survival in pediatric nephropathies / Verena Peters, Moustafa Kebbewar, Bart Janssen, Georg F. Hoffmann, Kristina Möller, Simone Wygoda, M… . - 7 S.
In: The journal of pediatric endocrinology and metabolism, ISSN 2191-0251. 29(2016), 7, S. 827-833
DOI: 10.1515/jpem-2015-0262
Staufner, Christian: Genetic cause and prevalence of hydroxyprolinemia / Christian Staufner, Tobias B. Haack, Patrik Feyh, Gwendolyn Gramer, Deepthi Ediga Raga, Caterina Ter… , 2 May 2016. - 8 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 5, Seite 625-632
DOI: 10.1007/s10545-016-9940-2
Colin, Estelle: Biallelic variants in UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy / Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati… , 18 August 2016. - 9 S.
In: The American journal of human genetics, ISSN 1537-6605. 99(2016), 3, Seite 695-703
DOI: 10.1016/j.ajhg.2016.06.030
Pan, Yi: CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model / Yi Pan, Nan Shen, Sabine Jung-Klawitter, Christian Betzen, Georg F. Hoffmann, Jörg D. Hoheisel and N… , 27 October 2016. - 7 S.
In: Scientific reports, ISSN 2045-2322. 6(2016) Article number: 35794, 7 Seiten
DOI: 10.1038/srep35794
Breil, Thomas: An assessment of publication status of pediatric liver transplantation studies / Thomas Breil, Daniel Wenning, Ulrike Teufel, Georg F. Hoffmann, Markus Ries, December 19, 2016. - 9 S.
In: PLOS ONE, ISSN 1932-6203. 11(2016,12) Artikel-Nummer e0168251, 9 Seiten
DOI: 10.1371/journal.pone.0168251
Driedger, Jan Henje: Thirty years of orphan drug legislation and the development of drugs to treat rare seizure conditions : a cross sectional analysis / Jan Henje Döring, Anette Lampert, Georg F. Hoffmann, Markus Ries, August 24, 2016. - 15 S.
In: PLOS ONE, ISSN 1932-6203. 11(2016,8) Artikel-Nummer e0161660, 15 Seiten
DOI: 10.1371/journal.pone.0161660
Boy, Nikolas: A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I / Nikolas Boy, Jana Heringer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Sven F. Garbade, Stefa… . -
London: BioMed Central, 22 December 2015. - 1 Online-Ressource (12 Seiten)
DOI: 10.1186/s13023-015-0379-6
Lutz, Thomas: Novel treatments for rare rheumatologic disorders : analysis of the impact of 30 years of the US orphan drug act / Thomas Lutz, Anette Lampert, Georg F. Hoffmann and Markus Ries. -
London: BioMed Central, 2016. - 1 Online-Ressource (12 Seiten)
Haack, Tobias: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement / Tobias B. Haack, Christopher B. Jackson, Kei Murayama, Laura S. Kremer, André Schaller, Urania Kotza… , 13 March 2015. - 18 S.
In: Annals of Clinical and Translational Neurology, ISSN 2328-9503. 2(2015), 5, Seite 492-509
DOI: 10.1002/acn3.189
Zielonka, Matthias: Dopamine-responsive growth-hormone deficiency and central hypothyroidism in sepiapterin reductase deficiency / Matthias Zielonka, Nawal Makhseed, Nenad Blau, Markus Bettendorf, Georg Friedrich Hoffmann, Thomas O… , 26 May 2015. - 5 S.
In: JIMD reports, ISSN 2192-8312. 24(2015), Seite 109-113
DOI: 10.1007/8904_2015_450
Graziano, Claudio: Syndromic intellectual disability : a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant / Claudio Graziano, Anita Wischmeijer, Tommaso Pippucci, Carlo Fusco, Chiara Diquigiovanni, Margit Nõu… , 14 January 2015. - 5 S.
In: Gene, ISSN 1879-0038. 559(2015), 2, Seite 144-148
DOI: 10.1016/j.gene.2015.01.026
Gramer, Gwendolyn: Medium-chain Acyl-CoA dehydrogenase deficiency : evaluation of genotype-phenotype correlation in patients detected by newborn screening / Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Georg F. Hoffmann, Claus R. Bartram, Katrin Hi… , 05 May 2015. - 12 S.
In: JIMD reports, ISSN 2192-8312. 23(2015), Seite 101-112
DOI: 10.1007/8904_2015_439
Hoffmann, Georg F.: Glycogen storage diseases of all types / Georg F. Hoffmann, P.A. Smit, B. Schoser, 05 May 2015. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 3, Seite 389-390
DOI: 10.1007/s10545-015-9848-2
Opladen, Thomas: In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis / Thomas Opladen, Martin Lindner, Anibh M. Das, Thorsten Marquardt, Aneal Khan, Sukru H. Emre, Barbara… , 2016. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 117(2016), 1, Seite 19-26
DOI: 10.1016/j.ymgme.2015.11.007
Peters, Verena: Carnosine metabolism in diabetes is altered by reactive metabolites / Verena Peters · Barbara Lanthaler · Albert Amberger · Thomas Fleming · Elisabete Forsberg · Markus H… , 17 June 2015. - 10 S.
In: Amino acids, ISSN 1438-2199. 47(2015), 11, Seite 2367-2376
DOI: 10.1007/s00726-015-2024-z
Teufel-Schäfer, Ulrike: Detection of carcinogenic etheno-DNA adducts in children and adolescents with non-alcoholic steatohepatitis (NASH) / Ulrike Teufel, Teresa Peccerella, Guido Engelmann, Thomas Bruckner, Christa Flechtenmacher, Gunda Mi… , December 2015. - 10 S.
In: Hepatobiliary surgery and nutrition, ISSN 2304-389X. 4(2015), 6, Seite 426-435
Stockklausner, Clemens: A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition / Clemens Stockklausner, Simon Raffel, Julia Klermund, Obul Reddy Bandapalli, Fabian Beier, Tim H. Brü… , 11 June 2015. - 17 S.
In: Aging, ISSN 1945-4589. 7(2015), 11, Seite 911-927
Kunz, Joachim: Significant prevalence of sickle cell disease in Southwest Germany : results from a birth cohort study indicate the necessity for newborn screening / Joachim B. Kunz, Saida Awad, Margit Happich, Lena Muckenthaler, Martin Lindner, Gwendolyn Gramer, Jü… , 2016. - 6 S.
In: Annals of hematology, ISSN 1432-0584. 95(2016), 3, Seite 397-402
DOI: 10.1007/s00277-015-2573-y
Burgard, Peter: Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years / Peter Burgard, Stefan Kölker, Gisela Haege, Martin Lindner, Georg F. Hoffmann, 2016. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 2, Seite 219-229
DOI: 10.1007/s10545-015-9901-1
Staufner, Christian: Adenosine kinase deficiency : expanding the clinical spectrum and evaluating therapeutic options / Christian Staufner, Martin Lindner, Carlo Dionisi‐Vici, Peter Freisinger, Dries Dobbelaere, Claire D… , 2016. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 2, Seite 273-283
DOI: 10.1007/s10545-015-9904-y
Staufner, Christian: Recurrent acute liver failure due to NBAS deficiency : phenotypic spectrum, disease mechanisms, and therapeutic concepts / Christian Staufner, Tobias B. Haack, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thi… , 2016. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 1, Seite 3-16
DOI: 10.1007/s10545-015-9896-7
Ebrahimi-Fakhari, Darius: Congenital disorders of autophagy : an emerging novel class of inborn errors of neuro-metabolism / Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F. Hoffmann, He… , 2016. - 21 S.
In: Brain, ISSN 1460-2156. 139(2016), 2, Seite 317-337
DOI: 10.1093/brain/awv371
Grohmann-Held, Karina: Hereditary orotic aciduria with epilepsy and without megaloblastic anemia / Karina Grohmann, Heinz Lauffer, Peter Lauenstein, Georg F. Hoffmann, Günter Seidlitz. - 3 S.
In: Neuropediatrics, ISSN 1439-1899. 46(2015), 02, S. 123-125
DOI: 10.1055/s-0035-1547341
Engelmann, Guido: Antibiotic prophylaxis in the management of percutaneous endoscopic gastrostomy in infants and children / Guido Engelmann, Daniel Wenning, Eduard Fertig, Henning Lenhartz, Georg Friedrich Hoffmann and Ulrik… , 2015. - 4 S.
In: Pediatrics international, ISSN 1442-200X. 57(2015), 2, Seite 295-298
DOI: 10.1111/ped.12508
Huwendiek, Sören: Exploring the validity and reliability of a questionnaire for evaluating virtual patient design with a special emphasis on fostering clinical reasoning / Sören Huwendiek, Bas A. De Leng, Andrzej A. Kononowicz, Romy Kunzmann, Arno M.M. Muijtjens, Cees P.… . - 8 S.
In: Medical teacher, ISSN 1466-187X. 37(2015), 8, S. 775-782
DOI: 10.3109/0142159X.2014.970622
Posset, Roland: Understanding cerebral L-lysine metabolism : the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I / Roland Posset, Silvana Opp, Eduard A. Struys, Alfred Völkl, Heribert Mohr, Georg F. Hoffmann, Stefan… , 2015. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 2, Seite 265-272
DOI: 10.1007/s10545-014-9762-z
Mechler, Konstantin: Ultra-orphan diseases : a quantitative analysis of the natural history of molybdenum cofactor deficiency / Konstantin Mechler , William K. Mountford, Georg F. Hoffmann & Markus Ries, December 2015. - 6 S.
In: Genetics in medicine, ISSN 1530-0366. 17(2015), 12, Seite 965-970
DOI: 10.1038/gim.2015.12
Ebrahimi-Fakhari, Darius: Recurrent stroke-like episodes in FBXL4-associated early-onset mitochondrial encephalomyopathy / Darius Ebrahimi-Fakhari, Angelika Seitz, Stefan Kölker, Georg F. Hoffmann. - 2 S.
In: Pediatric neurology, ISSN 1873-5150. 53(2015), 6, S. 549-550
DOI: 10.1016/j.pediatrneurol.2015.08.018
Lehmann, Ronny: Improving pediatric basic life support performance through blended learning with web-based virtual patients : randomized controlled trial / Ronny Lehmann, MD,MME, Christiane Thiessen, Barbara Frick, MD, Hans Martin Bosse, MD,MME, Christoph … , Jul 2015. - 18 S.
In: Journal of medical internet research, ISSN 1438-8871. 17(2015), 7, Artikel-ID e162, Seite 1-18
DOI: 10.2196/jmir.4141
Mechler, Konstantin: Pressure for drug development in lysosomal storage disorders : a quantitative analysis thirty years beyond the US orphan drug act / Konstantin Mechler, William K. Mountford, Georg Friedrich Hoffmann, Markus Ries. -
London: BioMed Central, 2015. - 1 Online-Ressource (9 Seiten)
Boy, Nikolas: A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I / Nikolas Boy, Jana Heringer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Sven F. Garbade, Stefa… , 22 December 2015
In: Orphanet journal of rare diseases, ISSN 1750-1172. 10(2015) Artikel-Nr. 163, 12 S.
DOI: 10.1186/s13023-015-0379-6
Sommerburg, Olaf: Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany / Olaf Sommerburg, Jutta Hammerman, Martin Lindner, Mirjam Stahl, Martina Muckenthaler, Dirk Kohlmuell… . - 10 S.
In: Pediatric pulmonology, ISSN 1099-0496. 50(2015), 7, S. 655-664
DOI: 10.1002/ppul.23190
Mechler, Konstantin: Pressure for drug development in lysosomal storage disorders : a quantitative analysis thirty years beyond the US orphan drug act / Konstantin Mechler, William K. Mountford, Georg F. Hoffmann and Markus Ries, 2015
In: Orphanet journal of rare diseases, ISSN 1750-1172. 10(2015) Artikel-Nr. 46, 9 S.
DOI: 10.1186/s13023-015-0262-5
Kästner, Bärbel: Clinical research in vulnerable populations : variability and focus of institutional review boards’ responses / Bärbel Kästner; Simone Behre; Nadine Lutz; Friederike Bürger; Steffen Luntz; Katrin Hinderhofer; … , 2015. - 8 S.
In: PLOS ONE, ISSN 1932-6203. 10(2015,8) Artikel-Nr. e0135997, 8 S.
DOI: 10.1371/journal.pone.0135997
Haack, Tobias: Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy / Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thi… , 11 June 2015. - 7 S.
In: The American journal of human genetics, ISSN 1537-6605. 97(2015), 1, Seite 163-169
DOI: 10.1016/j.ajhg.2015.05.009
Niemann, Dorothee: A prospective three-step intervention study to prevent medication errors in drug handling in paediatric care / Dorothee Niemann, Astrid Bertsche, David Meyrath, Ellen D. Koepf, Carolin Traiser, Katja Seebald, Cl… , 2015. - 14 S.
In: Journal of clinical nursing, ISSN 1365-2702. 24(2015), 1-2, Seite 101-114
DOI: 10.1111/jocn.12592
Engelmann, Guido: Alanine aminotransferase elevation in obese infants and children : a marker of early onset non alcoholic fatty liver disease / Guido Engelmann, Georg Friedrich Hoffmann, Juergen Grulich-Henn, Ulrike Teufel, April 7, 2014
In: Hepatitis monthly, ISSN 1735-3408. 14(2014,4) Artikel-Nummer e14112, 5 Seiten
DOI: 10.5812/hepatmon.14112
Niemann, Dorothee: Drug handling in a paediatric intensive care unit : can errors be prevented by a three-step intervention? / D. Niemann, A. Bertsche, D. Meyrath, S. Oelsner, A.L. Ewen, B. Pickardt, T. Henhapl, G. Hoffmann, J.… , 31. März 2014. - 6 S.
In: Klinische Pädiatrie, ISSN 1439-3824. 226(2014), 02, Seite 62-67
DOI: 10.1055/s-0033-1364030
Hoffmann, Georg F.: 50 years of newborn screening / Georg F. Hoffmann, Martin Lindner, J. Gerard Loeber, 14 February 2014. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 37(2014), 2, Seite 163-164
DOI: 10.1007/s10545-014-9688-5
Dau, Cécile Ngoc Dung: Dialyse im Neugeborenenalter : eine lebenserhaltende Therapie mit guter Langzeitprognose / C. Dau, S. Waldherr, G.F. Hoffmann, J. Pöschl, 08 February 2014. - 7 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 162(2014), 3, Seite 236-242
DOI: 10.1007/s00112-013-3064-7
Engelmann, Guido: Health-related quality of life in adolescents with inflammatory bowel disease depends on disease activity and psychiatric comorbidity / G. Engelmann, D. Erhard, M. Petersen, P. Parzer, A.A. Schlarb, F. Resch, R. Brunner, G.F. Hoffmann, … , 2015. - 8 S.
In: Child psychiatry & human development, ISSN 1573-3327. 46(2015), 2, Seite 300-307
DOI: 10.1007/s10578-014-0471-5
Häberle, Johannes: Krankheiten und Störungen des Eiweißstoffwechsel / Johannes Häberle; Stefan Kölker; Georg Friedrich Hoffmann, 2014. - 27 S.
In: Pädiatrie. (2014), Seite 466-492
Hoffmann, Georg F.: Differenzialdiagnose und Notfallbehandlung von Intermediärstoffwechselkrankheiten / Georg Friedrich Hoffmann; Stefan Kölker, 2014. - 7 S.
In: Pädiatrie. (2014), Seite 459-465
Pädiatrie : Grundlagen und Praxis / Georg F. Hoffmann, Michael J. Lentze, Jürgen Spranger, Fred Zepp (Hrsg.). - 4. Aufl.. -
Berlin, Heidelberg: Springer, 2014. - Online-Ressource (CXII, 2289 S.) : zahlr. Ill., ISBN 978-3-642-41866-2
DOI: 10.1007/978-3-642-41866-2
Gramer, Gwendolyn: Erratum zu: Metabolische Notfalltherapie / G. Gramer, G.F. Hoffmann, S. Kölker. - 1 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 162(2014), 2, S. 155-155
DOI: 10.1007/s00112-013-3065-6
Haas, Dorothea: Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF / Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, Alexandros Anninos, Gisela Haege, Peter… , 15 March 2014. - 7 S.
In: Gene, ISSN 1879-0038. 538(2014), 1, Seite 188-194
DOI: 10.1016/j.gene.2014.01.019
Šimaitė, Deimantė: Recessive mutations in PCBD1 cause a new type of early-onset diabetes / Deimante Simaite, Julia Kofent, Maolian Gong, Franz Rüschendorf, Shiqi Jia, Pamela Arn, Kristi Bentl… . - 8 S.
In: Diabetes, ISSN 1939-327X. 63(2014), 10, S. 3557-3564
DOI: 10.2337/db13-1784
Ebrahimi-Fakhari, Darius: Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases / Ebrahimi-Fakhari, Darius; Wahlster, Lara; Hoffmann, Georg F.; Koelker, Stefan, 2014. - 10 S.
In: Pediatric research, ISSN 1530-0447. 75(2014), 1/2, Seite 217-226
DOI: 10.1038/pr.2013.185
Opladen, Thomas: Aspartylglucosaminuria : unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family / Opladen, Thomas ; Ebinger, Friedrich ; Zschocke, Johannes ; Sengupta, Devjani ; Ben-Omran, Tawfeg ; … . - 7 S.
In: Journal of child neurology, ISSN 1708-8283. 29(2014), 1, S. 36-42
DOI: 10.1177/0883073812469049
Cornel, Martina C.: A framework to start the debate on neonatal screening policies in the EU : an Expert Opinion Document / Cornel, Martina C. ... Burgard, Peter; Hoffmann, Georg F.; Lindner, Martin ..., 2014. - 6 S.
In: European journal of human genetics, ISSN 1476-5438. 22(2014), 1, Seite 12-17
DOI: 10.1038/ejhg.2013.90
Sommerburg, Olaf: Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations / Olaf Sommerburg ; Veronika Krulisova ; Jutta Hammermann ; Martin Lindner ; Mirjam Stahl ; Martina Mu… . - 9 S.
In: Journal of cystic fibrosis, ISSN 1873-5010. 13(2014), 1, S. 15-23
DOI: 10.1016/j.jcf.2013.06.003
Zwickler, Tamaris: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia / Zwickler, T.; Riderer, A.; Haege, G.; Hoffmann, G. F.; Kolker, S.; Burgard, P., 2014. - 7 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 37(2014), 1, Seite 31-37
DOI: 10.1007/s10545-013-9621-3
Thiel, Christian: Screening for congenital disorders of glycosylation in the first weeks of life / Christian Thiel, Dorothea Meßner-Schmitt, Georg F. Hoffmann, Christian Körner, 2013. - 6 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 36(2013), 5, Seite 887-892
DOI: 10.1007/s10545-012-9531-9
Pfeil, Johannes: Newborn screening by tandem mass spectrometry for glutaric aciduria type 1 : a cost-effectiveness analysis / Johannes Pfeil, Stefan Listl, Georg F. Hoffmann, Stefan Kölker, Martin Lindner and Peter Burgard, 17 October 2013. - 11 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 8(2013), Artikel-ID 167, Seite 1-11
DOI: 10.1186/1750-1172-8-167
Huwendiek, Sören: Learner preferences regarding integrating, sequencing and aligning virtual patients with other activities in the undergraduate medical curriculum : A focus group study / Sören Huwendiek, Cecilia Duncker, Friedrich Reichert, Bas A. De Leng, Diana Dolmans, Cees P. M. van … , 04 Sep 2013. - 10 S.
In: Medical teacher, ISSN 1466-187X. 35(2013), 11, Seite 920-929
DOI: 10.3109/0142159X.2013.826790
Opladen, Thomas: Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia / Thomas Opladen, Georg F. Hoffmann, Andrea A. Kühn, Nenad Blau, 12 January 2013. - 3 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 108(2013), 3, Seite 195-197
DOI: 10.1016/j.ymgme.2013.01.001
Nota, Benjamin: Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria / Benjamin Nota, Eduard A. Struys, Ana Pop, Erwin E. Jansen, Matilde R. Fernandez Ojeda, Warsha A. Kan… , April 4, 2013. - 5 S.
In: The American journal of human genetics, ISSN 1537-6605. 92(2013), 4, Seite 627-631
DOI: 10.1016/j.ajhg.2013.03.009
Hoffmann, Georg F.: Defects in amino acid catabolism and the urea cycle / Georg F. Hoffmann, Stefan Kölker, 25 April 2013. - 19 S.
In: Pediatric neurology. (2013), Seite 1755-1773
Cullup, Thomas: Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy / Thomas Cullup, Ay L. Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Zoe Urry, Michael A.… , 2013. - 5 S.
In: Nature genetics, ISSN 1546-1718. 45(2013), 1, Seite 83-87
DOI: 10.1038/ng.2497
Haas, Dorothea: Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome / Dorothea Haas, Gisela Haege, Georg F. Hoffmann, and Peter Burgard, 26 March 2013. - 4 S.
In: American journal of medical genetics, ISSN 1552-4833. 161(2013), 5, Seite 1008-1011
DOI: 10.1002/ajmg.a.35837
Bener, Abdulbari: The impact of dietary and lifestyle factors on the risk of dental caries among young children in Qatar / Abdulbari Bener, Mohammed S. Al Darwish, Ihab Tewfik and Georg F. Hoffmann, 2013. - 7 S.
In: Journal of the Egyptian Public Health Association, ISSN 2090-262X. 88(2013), 2, Seite 67-73
DOI: 10.1097/01.EPX.0000430962.70261.8e
Gramer, Gwendolyn: Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life / Gwendolyn Gramer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Martin Lindner, Peter Burgard, 2014. - 7 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 37(2014), 2, Seite 189-195
DOI: 10.1007/s10545-013-9639-6
Hoffmann, Georg F.: Stoffwechselerkrankungen / G. F. Hoffmann, 2013. - 39 S.
In: Pädiatrie. (2013), Seite 71-109
DOI: 10.1007/978-3-642-34269-1
Gramer, Gwendolyn: Visual functions in phenylketonuria : evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses / Gwendolyn Gramer, Birgit Förl, Christina Springer, Petra Weimer, Gisela Haege, Friederike Mackensen,… , January 2013. - 7 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 108(2013), 1, Seite 1-7
DOI: 10.1016/j.ymgme.2012.10.021
Gramer, Gwendolyn: Metabolische Notfalltherapie : Praktische Umsetzung im klinischen Alltag / G. Gramer, G.F. Hoffmann, S. Kölker. - 16 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 161(2013), 7, S. 645-660
DOI: 10.1007/s001120132939y
Pfeil, Johannes: Newborn screening by tandem mass spectrometry for glutaric aciduria type 1 : a cost-effectiveness analysis / Johannes Pfeil, Stefan Listl, Georg F. Hoffmann, Stefan Kölker, Martin Lindner and Peter Burgard. -
London: BioMed Central, 2016. - 1 Online-Ressource (11 Seiten)
Haack, Tobias: Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening / Tobias B. Haack, Matteo Gorza, Katharina Danhauser, Johannes A. Mayr, Birgit Haberberger, Thomas Wie… , 2014. - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 111(2014), 3, Seite 342-352
DOI: 10.1016/j.ymgme.2013.12.010
Kölker, Stefan: Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I : a decade of experience / Stefan Kölker, S. P. Nikolas Boy, Jana Heringer, Edith Müller, Esther M. Maier, Regina Ensenauer, Ch… , 2012. - 9 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 107(2012), 1, Seite 72-80
DOI: 10.1016/j.ymgme.2012.03.021
Engelmann, Guido: Feasibility study and control values of transient elastography in healthy children / Guido Engelmann, Ulrike Teufel, Georg F. Hoffmann, September 2012. - 1 S.
In: European journal of pediatrics, ISSN 1432-1076. 171(2012), 9, Seite 1417
DOI: 10.1007/s00431-012-1778-5
Loeber, J. Gerard: Newborn screening programmes in Europe; arguments and efforts regarding harmonization : Part 1 - From blood spot to screening result / J. Gerard Loeber, Peter Burgard, Martina C. Cornel, Tessel Rigter, Stephanie S. Weinreich, Kathrin R… , July 2012. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 35(2012), 4, Seite 603-611
DOI: 10.1007/s10545-012-9483-0
Haas, Dorothea: Differential diagnosis in patients with suspected bile acid synthesis defects / Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, Tilman Rohrer, Guido Engelmann, Maura H… , March 14, 2012. - 10 S.
In: World journal of gastroenterology, ISSN 2219-2840. 18(2012), 10, Seite 1067-1076
DOI: 10.3748/wjg.v18.i10.1067
Zwickler, Tamaris: Metabolic decompensation in methylmalonic aciduria : which biochemical parameters are discriminative? / Tamaris Zwickler, Gisela Haege, Alina Riderer, Friederike Hörster, Georg F. Hoffmann, Peter Burgard,… . - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 35(2012), 5, S. 797-806
DOI: 10.1007/s10545-011-9426-1
Haack, Tobias: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing / Tobias B. Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza,… . - 7 S.
In: Journal of medical genetics, ISSN 1468-6244. 49(2012), 4, S. 277-283
DOI: 10.1136/jmedgenet-2012-100846
Danhauser, Katharina: DHTKD1 mutations cause 2-Aminoadipic and 2-Oxoadipic aciduria / Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth G… , November 8, 2012. - 6 S.
In: The American journal of human genetics, ISSN 1537-6605. 91(2012), 6, Seite 1082-1087
DOI: 10.1016/j.ajhg.2012.10.006
Burgard, Peter: Newborn screening programmes in Europe : arguments and efforts regarding harmonization : Part 2 - From screening laboratory results to treatment, follow-up and quality assurance / Peter Burgard, Kathrin Rupp, Martin Lindner, Gisela Haege, Tessel Rigter, Stephanie S. Weinreich, J.… . - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 35(2012), 4, S. 613-625
DOI: 10.1007/s10545-012-9484-z
Opladen, Thomas: An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia / Thomas Opladen, Georg F. Hoffmann, Nenad Blau
In: Journal of inherited metabolic disease, ISSN 1573-2665. 35(2012), 6, S. 963-973
DOI: 10.1007/s10545-012-9506-x
Boy, Nikolas: Low lysine diet in glutaric aciduria type I - effect on anthropometric and biochemical follow-up parameters / Nikolas Boy, Gisela Haege, Jana Heringer, Birgit Assmann, Chris Mühlhausen, Regina Ensenauer, Esther… , 2013. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 36(2013), 3, Seite 525-533
DOI: 10.1007/s10545-012-9517-7
Hermanussen, Michael: How much chicken is food? : questioning the definition of food by analyzing amino acid composition of modern convenience products : conflict of interest statement : there is no conflict of interest to disclose / M. Hermanussen, U. Gonder, D. Stegemann, M. Wesolowski, B. Ulewicz-Magulska, H. Wartensleben, G.F. H… , 2012. - 13 S.
In: Journal of biological and clinical anthropology, ISSN 2363-7099. 69(2012), 1, Seite 57-69
DOI: 10.1127/0003-5548/2011/0153
Friedman, Jennifer R.: Sepiapterin reductase deficiency : a treatable mimic of cerebral palsy / Jennifer Friedman, Emmanuel Roze, Jose E. Abdenur, Richard Chang, Serena Gasperini, Veronica Saletti… . - 11 S.
In: Annals of neurology, ISSN 1531-8249. 71(2012), 4, S. 520-530
DOI: 10.1002/ana.22685
Schubert, Julian: PRRT2 Mutations are the major cause of benign familial infantile seizures / Julian Schubert, Roberta Paravidino, Felicitas Becker, Andrea Berger, Nerses Bebek, Amedeo Bianchi, … . - 5 S.
In: Human mutation, ISSN 1098-1004. 33(2012), 10, S. 1439-1443
DOI: 10.1002/humu.22126
Zschocke, Johannes: Vademecum Metabolicum : Diagnose und Therapie erblicher Stoffwechselkrankheiten; 40 Tabellen / Johannes Zschocke; Georg F. Hoffmann. - 4., vollständig überarb. und erw. Aufl.. -
Stuttgart: Schattauer, 2012. - X, 742 S. : graph. Darst., ISBN 978-3-7945-2815-8
Huwendiek, Sören: Virtuelle Patienten für Kinderärzte : an der Universität Heidelberg geht man neue Wege in der Medizinerausbildung / Sören Huwendiek; Stephan Oberle; Barbara Frick; Anke Simon; Jochen Meyburg; Georg Friedrich Hoffmann… . -
Heidelberg: Zentrum für Kinder- und Jugendmedizin, 2012. - Online-Ressource
Hoffmann, Georg F.: Zentrum für Seltene Erkrankungen : am Universitätsklinikum Heidelberg gibt es ein spezielles Zentrum für Menschen, die von einer seltenen Krankheit betroffen sind / Georg F. Hoffmann. -
Heidelberg: Medizinische Universitäts-Klinik und Poliklinik, 2012. - Online-Ressource
(Campus-Report bei Uni-Radio Baden ; 04. April 2012)
Zepp, Fred: Stoffwechsel- und Gendiagnostik : Einführung zum Thema / F. Zepp, G.F. Hoffmann, 3. September 2011. - 1 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 159(2011), 9, Seite 813
DOI: 10.1007/s00112-011-2441-3
Peters, Verena: Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration / Verena Peters, Erwin E.W. Jansen, Cornelis Jakobs, Eva Riedl, Bart Janssen, Benito A. Yard, Johannes… , 2011. - 5 S.
In: Clinica chimica acta, ISSN 1873-3492. 412(2011), 3-4, Seite 263-267
DOI: 10.1016/j.cca.2010.10.016
Simonetti, Giacomo D.: Determinants of blood pressure in preschool children / Giacomo D. Simonetti, Rainer Schwertz, Martin Klett, Georg F. Hoffmann, Franz Schaefer, Elke Wühl, 10 Jan 2011. - 7 S.
In: Circulation, ISSN 1524-4539. 123(2011), 3, Seite 292-298
DOI: 10.1161/CIRCULATIONAHA.110.958769
Orth, Matthias: Praktische Umsetzung des Gendiagnostikgesetzes (GenDG) in der Laboratoriumsmedizin, dem humangenetischen Laboratorium und der humangenetischen Beratung / Matthias Orth, Imma Rost, Georg F. Hoffmann und Hanns-Georg Klein, 1. September 2011. - 11 S.
In: Laboratoriumsmedizin, ISSN 1439-0477. 35(2011), 5, Seite 243-253
DOI: 10.1515/JLM.2011.045
Opladen, Thomas: Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia / Thomas Opladen, Georg Hoffmann, Friederike Hörster, Anne-Bärbel Hinz, Katharina Neidhardt, Christine… , 2011. - 5 S.
In: Movement disorders, ISSN 1531-8257. 26(2011), 1 vom: Jan., Seite 157-161
DOI: 10.1002/mds.23329
Sauer, Sven: Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I / Sven W. Sauer, Silvana Opp, Georg F. Hoffmann, David M. Koeller, Jürgen G. Okun and Stefan Kölker, 2011. - 14 S.
In: Brain, ISSN 1460-2156. 134(2011), 1, Seite 157-170
DOI: 10.1093/brain/awq269
Sauer, Sven: Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b−/− mice as a model for Wilson disease / Sven W. Sauer, Uta Merle, Silvana Opp, Dorothea Haas, Georg F. Hoffmann, Wolfgang Stremmel, Jürgen G… , 2 September 2011. - 9 S.
In: Biochimica et biophysica acta, ISSN 1879-260X. 1812(2011), 12, Seite 1607-1615
DOI: 10.1016/j.bbadis.2011.08.011
Nennstiel-Ratzel, Uta: Neugeborenenscreening auf Stoffwechsel- und Hormonstörungen : Herausforderungen in Klinik und Praxis / U. Nennstiel-Ratzel, G.F. Hoffmann, M. Lindner, 02 September 2011. - 7 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 159(2011), 9, Seite 814-820
DOI: 10.1007/s00112-011-2442-2
Lindner, Martin: Efficacy and outcome of expanded newborn screening for metabolic diseases : report of 10 years from South-West Germany / Martin Lindner, Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Karl O. Schwab, Uta Tacke, Fri… , 2011. - 10 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 6(2011), Artikel-ID 44, Seite 1-10
DOI: 10.1186/1750-1172-6-44
Lichtenstein, Silke: Adipositasprävention in Grundschulen : nachhaltige Senkung des Adipositasrisikos bei Grundschülern mittels schulbasiertem Präventionsprogramm / S. Lichtenstein, U. Teufel, C. Weiland, N. Engel, G. Engelmann, G.F. Hoffmann, J. Grulich-Henn, 2. Juli 2011. - 7 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 159(2011), 8, Seite 751-757
DOI: 10.1007/s00112-011-2467-6
Miller, Bradley: Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic) / Bradley S. Miller, Hudson H. Freeze, Georg F. Hoffmann, Kyriakie Sarafoglou, 3 February 2011. - 3 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 103(2011), 1, Seite 101-103
DOI: 10.1016/j.ymgme.2011.01.016
Häberle, Johannes: Natural course of glutamine synthetase deficiency in a 3 year old patient / Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Georg F. Hoffmann, Tawfeg Ben-Omran, 2011. - 3 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 103(2011), 1 vom: Mai, Seite 89-91
DOI: 10.1016/j.ymgme.2011.02.001
Grulich-Henn, Jürgen: Moderate weight reduction in an outpatient obesity intervention program significantly reduces insulin resistance and risk factors for cardiovascular disease in severely obese adolescents / J. Grulich-Henn, S. Lichtenstein, F. Hörster, G.F. Hoffmann, P.P. Nawroth, and A. Hamann, 2011. - 6 S.
In: International journal of endocrinology, ISSN 1687-8345. 2011(2011), Artikel-ID 541021, Seite 1-6
DOI: 10.1155/2011/541021
Kurian, Manju A.: Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome : an observational cohort and experimental study / Manju A. Kurian, Yan Li, Juan Zhen, Esther Meyer, Nebula Hai, Hans-Jürgen Christen, Georg F. Hoffman… , 2011. - 9 S.
In: The lancet, ISSN 1474-4465. 10(2011), 1, Seite 54-62
DOI: 10.1016/S1474-4422(10)70269-6
Kölker, Stefan: Glutarazidurie Typ I : Von der interdisziplinären Forschung zur strukturierten Patientenversorgung / S. Kölker, S.W. Sauer, J.G. Okun, P. Burgard, G.F. Hoffmann, 31 August 2011. - 6 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 159(2011), 9, Seite 842-847
DOI: 10.1007/s00112-011-2443-1
Huwendiek, Sören: Kernausbildungsinhalte Pädiatrie für Medizinstudierende : Ergebnisse einer bundesweiten Umfrage unter Lehrbeauftragten der Universitätskinderkliniken und Obleuten des Berufsverbands der Kinder- und Jugendärzte e.V. / S. Huwendiek, H.R. Haider, M.R. Fischer, G.F. Hoffmann, B. Tönshoff, 22 April 2011. - 7 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 159(2011), 7, Seite 655-661
DOI: 10.1007/s00112-011-2401-y
Al-Dirbashi, Osama Y.: Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry / Osama Y. Al-Dirbashi, Stefan Kölker, Dione Ng, Lawrence Fisher, Tony Rupar, Nathalie Lepage, Mohamed… , 2011. - 8 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 34(2011), 1, Seite 173-180
DOI: 10.1007/s10545-010-9223-2
Weirich, Angela: Erich von Baeyer (1909-1990) : Medizinstudent in der Weimarer Republik und Porträtzeichner von Professoren der Heidelberger Universität / Angela Weirich; Georg F. Hoffmann, 2011. - 12 S. : Ill.
In: Heidelberg, ISSN 1432-6116. 16.2012(2011), Seite 167-178
Zschocke, Johannes: Vademecum Metabolicum : diagnosis and treatment of inborn errors of metabolism / Johannes Zschocke; Georg F. Hoffmann. - 3rd. rev. ed.. -
Stuttgart: Schattauer, 2011. - X, 174 S. : Ill., ISBN 978-3-7945-2816-5
(Milupa metabolics)
Nikendei, Christoph: Outcome of parent-physician communication skills training for pediatric residents / Christoph Nikendei, Hans Martin Bosse, Katja Hoffmann, Andreas Möltner, Rabea Hancke, Corinna Conrad… , 2011. - 6 S.
In: Patient education and counseling, ISSN 1873-5134. 82(2011), 1, Seite 94-99
DOI: 10.1016/j.pec.2009.12.013
Teufel-Schäfer, Ulrike: High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure / Teufel, U.; Weitz, J.; Flechtenmacher, C. ... Schmidt, J.; Hoffmann, G. F.; Kolker, S. ..., 2011
In: Pediatric transplantation, ISSN 1399-3046. 15(2011,6), Artikel-Nr.E110-5
DOI: 10.1111/j.1399-3046.2009.01171.x
Weirich, Angela: Von der privaten, überwiegend karitativen Kinderheilanstalt (1860) zur staatlichen Universitätskinderklinik Heidelberg (1923) / Angela Weirich ; Georg F. Hoffmann, 2010. - 26 S.
In: Entwicklungen und Perspektiven der Kinder- und Jugendmedizin. (2010), Seite 29-54
Willemsen, Michèl A.: Tyrosine hydroxylase deficiency : a treatable disorder of brain catecholamine biosynthesis / Michèl A. Willemsen, Marcel M. Verbeek, Erik-Jan Kamsteeg, Johanneke F. de Rijk-van Andel, Alec Aeby… , June 2010. - 13 S.
In: Brain, ISSN 1460-2156. 133(2010), 6 vom: Juni, Seite 1810-1822
DOI: 10.1093/brain/awq087
Kuilenburg, André van: Dihydropyrimidinase deficiency : phenotype, genotype and structural consequences in 17 patients / André B.P. van Kuilenburg, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Jean-François Benoist, … , 1 April 2010. - 10 S.
In: Biochimica et biophysica acta, ISSN 1879-260X. 1802(2010), 7/8 vom: Juli/Aug., Seite 639-648
DOI: 10.1016/j.bbadis.2010.03.013
Sommerburg, Olaf: Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population / Olaf Sommerburg, Martin Lindner, Martina Muckenthaler, Dirk Kohlmueller, Svenja Leible, Reinhard Fen… , 17 August 2010. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 33(2010), Suppl 2, Seite S263-271
DOI: 10.1007/s10545-010-9174-7
Gan-Schreier, Hongying: Newborn population screening for classic homocystinuria by determination of total homocysteine from guthrie cards / Hongying Gan-Schreier, PhD, Moustafa Kebbewar, Junmin Fang-Hoffmann, MD, Julia Wilrich, MD, Ghassan … , March 2010. - 6 S.
In: The journal of pediatrics, ISSN 1097-6833. 156(2010), 3 vom: März, Seite 427-432
DOI: 10.1016/j.jpeds.2009.09.054
Opladen, Thomas: Phenylalanine loading in pediatric patients with dopa-responsive dystonia : revised test protocol and pediatric cutoff values / Thomas Opladen, Jürgen G. Okun, Peter Burgard, Nenad Blau, Georg F. Hoffmann, 29 July 2010. - 7 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 33(2010), 6 vom: Dez., Seite 697-703
DOI: 10.1007/s10545-010-9164-9
Rauschenberger, Katharina: A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival / Katharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, Sven Sauer, Zdenka Djuric, Cordula Rumig,… , 4 February 2010. - 12 S.
In: EMBO molecular medicine, ISSN 1757-4684. 2(2010), 2 vom: Feb., Seite 51-62
DOI: 10.1002/emmm.200900055
Prasad, Asuri: Early onset epilepsy and inherited metabolic disorders : diagnosis and management / Asuri N. Prasad, G.F. Hoffmann, May 2010. - 9 S.
In: The journal / Canadian Neurological Sciences Federation, ISSN 2057-0155. 37(2010), 3 vom: Mai, Seite 350-358
DOI: 10.1017/S0317167100010246
Morava-Kozicz, Eva: A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism / Eva Morava, Ron A. Wevers, Vincent Cantagrel, Lies H. Hoefsloot, Lihadh Al-Gazali, Jeroen Schoots, A… , 17 September 2010. - 11 S.
In: Brain, ISSN 1460-2156. 133(2010), 11 vom: Nov., Seite 3210-3220
DOI: 10.1093/brain/awq261
Peters, Verena: Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity / Verena Peters, Moustafa Kebbewar, Erwin W. Jansen, Cornelis Jakobs, Eva Riedl, Hannes Koeppel, Dirk … , 2010. - 9 S.
In: Amino acids, ISSN 1438-2199. 38(2010), 5, Seite 1607-1615
DOI: 10.1007/s00726-009-0367-z
Heringer-Seifert, Jana: Use of guidelines improves the neurological outcome in glutaric aciduria type I / Jana Heringer, S. P. Nikolas Boy, Regina Ensenauer, Birgit Assmann, Johannes Zschocke, Inga Harting,… , [November 2010]. - 10 S. : Illustrationen
In: Annals of neurology, ISSN 1531-8249. 68(2010), 5 vom: Nov., Seite 743-752
DOI: 10.1002/ana.22095
Meyburg, Jochen: Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects / Jochen Meyburg, Georg F. Hoffmann, 29 January 2010. - 7 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 100(2010), Seite S77-S83
DOI: 10.1016/j.ymgme.2010.01.011
Meyburg, Jochen: Monitoring of intraportal liver cell application in children / Jochen Meyburg, M.D., Friederike Hoerster, Jan Schmidt, Johannes Poeschl, Georg F. Hoffmann, and Jen… , May 1, 2010. - 10 S.
In: Cell transplantation, ISSN 1555-3892. 19(2010), 5, Seite 629-638
DOI: 10.3727/096368909X485058
Lindner, Martin: Newborn screening for disorders of fatty-acid oxidation : experience and recommendations from an expert meeting / Martin Lindner, Georg F. Hoffmann, Dietrich Matern, 7 April 2010. - 6 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 33(2010), 5 vom: Okt., Seite 521-526
DOI: 10.1007/s10545-010-9076-8
Engelmann, Guido: A new pediatric liver transplantation program in Southern Germany : the Heidelberg experience / Guido Engelmann, Jan Schmidt, Juergen Weitz, Christa Flechtenmacher, Jens Peter Schenk, Markus A. We… , 08 January 2010. - 7 S.
In: Pediatric transplantation, ISSN 1399-3046. 14(2010), 1 vom: Feb., Seite 12-18
DOI: 10.1111/j.1399-3046.2009.01247.x
Brun, L.: Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency / L. Brun, L.H. Ngu, W.T. Keng, G.S. Ch'ng, Y.S. Choy, W.L. Hwu, W.T. Lee, M.a.a.P. Willemsen, M.M. Ve… , May 26, 2010. - 8 S.
In: Neurology, ISSN 1526-632X. 75(2010), 1, Seite 64-71
DOI: 10.1212/WNL.0b013e3181e620ae
Hoffmann, Georg F.: Newborn screening - progress and challenges / Georg F. Hoffmann, Veronica Cornejo, Rodney J. Pollitt, [October 2010]. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 33(2010), S2 vom: Okt., Seite 199-200
DOI: 10.1007/s10545-010-9191-6
Inherited Metabolic Diseases : A Clinical Approach / edited by Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan. -
Berlin, Heidelberg: Springer-Verlag Berlin Heidelberg, 2010. - Online-Ressource (Approx. 0 p. 58 illus., 25 illus. in color, digital), ISBN 978-3-540-74723-9
(SpringerLink : Bücher)
DOI: 10.1007/978-3-540-74723-9
Bener, Abdulbari: Nutritional rickets among children in a sun rich country (clinical study) / Abdulbari Bener; Georg F. Hoffmann. -
New York; Berlin; Heidelberg: Hindawi; Springer, 2016. - 1 Online-Ressource
Entwicklungen und Perspektiven der Kinder- und Jugendmedizin : 150 Jahre Pädiatrie in Heidelberg / Georg F. Hoffmann ... (Hg.). - 1. Aufl.. -
Mainz: Kirchheim, 2010. - 411 S. : Ill., graph. Darst., ISBN 978-3-87409-489-4
Inherited metabolic diseases : a clinical approach / ed. by Georg F. Hoffmann .... -
Berlin ; Heidelberg: Springer, 2010. - XIV, 386 S. : Ill., graph. Darst., ISBN 978-3-540-74722-2
Pediatric endocrinology and inborn errors of metabolism / ed. Kyriakie Sarafoglou .... -
New York, NY [u.a.]: McGraw-Hill Medical, 2009. - XIII, 949 S. : zahlr. Ill., graph. Darst., ISBN 978-0-07-143915-2
Bosse, Hans-Martin: Kommunikationsschulung mittels "Standardisierter Eltern" für Ärzte im Fachbereich der Pädiatrie : strukturierte Kompetenzvermittlung im Rahmen der ärztlichen Weiterbildung / H. M. Bosse, C. Nikendei C, K. Hoffmann, B. Kraus, S. Huwendiek, G. F. Hoffmann, J. Jünger, J.-H. Sc… , 2007. - 6 S.
In: Zeitschrift für ärztliche Fortbildung und Qualität im Gesundheitswesen, ISSN 1431-7621. 101(2007), 10, Seite 661-666
Sauer, Sven: Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited ﬂux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deﬁciency / Sven W. Sauer, Jürgen G. Okun, Gert Fricker, Anne Mahringer, Ines Müller, Linda R. Crnic, Chris Mühl… , 2006. - 12 S.
In: Journal of neurochemistry, ISSN 1471-4159. 97(2006), 3, Seite 899-910
DOI: 10.1111/j.1471-4159.2006.03813.x
Diseases of neurotransmission : from bench to bed; int.symposium 2004, Fulda / G. F. Hoffmann (ed.). -
Heilbronn: SPS, 2006. - 212 S. : Ill., graph. Darst., ISBN 978-3-936145-35-9
Wolf, Nicole: Leukoencephalopathy with ataxia, hypodontia, and hypomyelination / N.I. Wolf, I. Harting, E. Boltshauser, G. Wiegand, M.J. Koch, T. Schmitt-Mechelke, E. Martin, J. Zsc… , April 25, 2005. - 4 S.
In: Neurology, ISSN 1526-632X. 64(2005), 8, Seite 1461-1464
DOI: 10.1212/01.WNL.0000158615.56071.E3
Zschocke, Johannes: Vademecum Metabolicum : manuale pediatrico di malattie metaboliche ereditarie / Johannes Zschocke; Georg F. Hoffmann. - 3a ed. italiana. -
Torino: Ed. Medico Scientifiche, 2005. - X, 211 S. : graph. Darst., ISBN 978-88-7110-162-0
Zschocke, Johannes: Vademecum Metabolicum : manuel de pédiatrie métabolique / Johannes Zschocke; Georg F. Hoffmann. -
[Stuttgart]: Schattauer, 2005. - XIII, 168 S. : graph. Darst., ISBN 978-3-7945-2439-6
Stoffwechselerkrankungen in der Neurologie : 53 Tabellen / hrsg. von Georg F. Hoffmann; Armin J. Grau. Mit Beitr. von B. Assmann .... -
Stuttgart [u.a.]: Thieme, 2004. - Online-Ressource (XVI, 212 S.), ISBN 978-3-13-188571-5
(Referenz-Reihe Neurologie: Klinische Neurologie)
DOI: 10.1055/b-002-11387
Zschocke, Johannes: Vademecum metabolicum : manual of metabolic paediatrics / Johannes Zschocke; Georg F. Hoffmann. In cooperation with Claude Bachmann ... Foreword by James V. L… . - 2. ed.. -
Stuttgart: Schattauer, 2004. - X, 164 S. : graph. Darst., ISBN 978-3-7945-2385-6
Stoffwechselerkrankungen in der Neurologie : 53 Tabellen / hrsg. von Georg F. Hoffmann; Armin J. Grau. Mit Beitr. von B. Assmann .... -
Stuttgart [u.a.]: Thieme, 2004. - XVI, 212 S : Ill., graph. Darst, ISBN 978-3-13-136321-3
(RRN - Referenz-Reihe Neurologie : Klinische Neurologie)
Zschocke, Johannes: Vademecum metabolicum : Diagnose und Therapie erblicher Stoffwechselkrankheiten / Johannes Zschocke; Georg F. Hoffmann. In Zsarbeit mit Alberto B. Burlina.. ... Geleitw. von Udo Wend… . - 3., vollst. überarb. und erw. Aufl.. -
[Stuttgart]: Schattauer, 2004. - 164 S. : graph. Darst., ISBN 978-3-7945-2375-7
Schulze, Andreas: Lack of creatine in muscle and brain in an adult with GAMT deficiency / Andreas Schulze, Peter Bachert, Heinz Schlemmer, Inga Harting, Tilman Polster, Gajja S. Salomons, Na… , 23 January 2003. - 4 S.
In: Annals of neurology, ISSN 1531-8249. 53(2003), 2, Seite 248-251
DOI: 10.1002/ana.10455
Ahlemeyer, Barbara: Cytosine arabinofuranoside-induced activation of astrocytes increases the susceptibility of neurons to glutamate due to the release of soluble factors / Barbara Ahlemeyer, Stefan Kölker, Yuan Zhu, Georg F Hoffmann, Josef Krieglstein, 22 January 2003. - 15 S.
In: Neurochemistry international, ISSN 1872-9754. 42(2003), 7, Seite 567-581
DOI: 10.1016/S0197-0186(02)00164-X
Prietsch, Viola: Mevalonate kinase deficiency : enlarging the clinical and biochemical spectrum / Viola Prietsch, Ertan Mayatepek, Hermann Krastel, Dorothea Haas, Dorothee Zundel, Hans R. Waterham, … , February 1, 2003. - 4 S.
In: Pediatrics, ISSN 1098-4275. 111(2003), 2, Seite 258-261
DOI: 10.1542/peds.111.2.258
Bandmann, Oliver: The phenylalanine loading test in the differential diagnosis of dystonia / O. Bandmann, M. Goertz, J. Zschocke, G. Deuschl, W. Jost, H. Hefter, U. Müller, P. Zöfel, G. Hoffman… , February 25, 2003. - 3 S.
In: Neurology, ISSN 1526-632X. 60(2003), 4, Seite 700-702
DOI: 10.1212/01.WNL.0000048205.18445.98
Zschocke, Johannes: The molecular basis of phenylalanine hydroxylase deficiency in Croatia / Johannes Zschocke, Astrid Preusse, Vladimir Sarnavka, Ksenija Fumic, Duško Mardešic, Georg F. Hoffma… , 19 March 2003. - 6 S.
In: Human mutation, ISSN 1098-1004. 21(2003), 4, Artikel-ID 399
DOI: 10.1002/humu.9115
Ly-Hartig, Thi Bach Nga: Mutations in the AUH gene cause 3-methylglutaconic aciduria type I / T.B. Nga Ly, Verena Peters, K. Michael Gibson, Michael Liesert, Wolfgang Buckel, Bridget Wilcken, Ke… , 19 March 2003. - 7 S.
In: Human mutation, ISSN 1098-1004. 21(2003), 4, Seite 401-407
DOI: 10.1002/humu.10202
Assmann, Birgit: Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia / Birgit Assmann, Robert Surtees, Georg F. Hoffmann, Jul 25, 2003. - 7 S.
In: Annals of neurology, ISSN 1531-8249. 54(2003), S6, Seite S18-S24
DOI: 10.1002/ana.10628
Hoffmann, Georg F.: Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia / Georg F. Hoffmann, Birgit Assmann, Christa Bräutigam, Carlo Dionisi‐Vici, Martin Häussler, Johannes … , Jul 25, 2003. - 10 S.
In: Annals of neurology, ISSN 1531-8249. 54(2003), S6, Seite S56-S65
DOI: 10.1002/ana.10632
Schulze, Andreas: Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry : results, outcome, and implications / Andreas Schulze, Martin Lindner, Dirk Kohlmüller, Katharina Olgemöller, Ertan Mayatepek, Georg F. Ho… , June 1, 2003. - 8 S.
In: Pediatrics, ISSN 1098-4275. 111(2003), 6, Seite 1399-1406
DOI: 10.1542/peds.111.6.1399
Lukacs, Zoltan: Towards quality assurance in the determination of lysosomal enzymes : a two-centre study / Z. Lukacs, A. Keil, V. Peters, A. Kohlschütter, G.F. Hoffmann, M. Cantz, J. Kopitz, 2003. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 26(2003), 6, Seite 571-581
DOI: 10.1023/A:1025904132569
Peters, Verena: Genetisch bedingte Erkrankungen der Glykoproteinbiosynthese / Peters, V., Fang, J., Hoffmann, G.F., 2003. - 8 S.
In: Neuropädiatrie in Klinik und Praxis, ISSN 1619-3873. 2(2003), Seite 156-163
Hömme, Meike: Vitamin D and dexamethasone inversely regulate parathyroid hormone-induced regulator of G protein signaling-2 expression in osteoblast-like cells / M. Hömme, C.P. Schmitt, R. Himmele, G.F. Hoffmann, O. Mehls, and F. Schaefer, 01 June 2003. - 9 S.
In: Endocrinology, ISSN 1945-7170. 144(2003), 6, Seite 2496-2504
DOI: 10.1210/en.2002-0160
Prietsch, Viola: A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy / V. Prietsch, V. Peters, R. Hackler, R. Jakobi, B. Assmann, J. Fang, C. Körner, A. Helwig-Rolig, J.R.… , 01 May 2002. - 5 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 25(2002), 2, Seite 126-130
DOI: 10.1023/A:1015628810892
Assmann, Birgit: Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia / Birgit Assmann, Martin Köhler, Georg F. Hoffmann, Simon Heales, Robert Surtees, 2002. - 4 S.
In: Pediatric research, ISSN 1530-0447. 52(2002), 1, Seite 91-94
DOI: 10.1203/00006450-200207000-00017
Prietsch, Viola: Diagnostik und Therapie angeborener Stoffwechselkrankheiten / V. Prietsch, G.F. Hoffmann, 2002. - 8 S.
In: Neuropädiatrie in Klinik und Praxis, ISSN 1619-3873. 1(2002), 2, Seite 62-69
Zschocke, Johannes: Nature and nurture in vitamin B12 deficiency / J. Zschocke, S. Schindler, G.F. Hoffmann, M. Albani, July 01, 2002. - 2 S.
In: Archives of disease in childhood, ISSN 1468-2044. 87(2002), 1, Seite 75-76
DOI: 10.1136/adc.87.1.75
Zschocke, Johannes: The diagnosis of mitochondrial HMG-CoA synthase deficiency / Johannes Zschocke, Johannes M. Penzien, Rainer Bielen, Núria Casals, Rosa Aledo, Juan Pié, Georg F. … , 11 July 2002. - 3 S.
In: The journal of pediatrics, ISSN 1097-6833. 140(2002), 6, Seite 778-780
DOI: 10.1067/mpd.2002.123854
Bräutigam, Christa: Neurotransmitter metabolites in CSF : an external quality control scheme / C. Bräutigam, C. Weykamp, G.F. Hoffmann, R.A. Wevers, 01 June 2002. - 12 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 25(2002), 4, Seite 287-298
DOI: 10.1023/A:1016550324235
Kölker, Stefan: Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons / Stefan Kölker, Jürgen G. Okun, Barbara Ahlemeyer, Angela T.S. Wyse, Friederike Hörster, Moacir Wajne… , 05 April 2002. - 7 S.
In: Journal of neuroscience research, ISSN 1097-4547. 68(2002), 4, Seite 424-431
DOI: 10.1002/jnr.10189
Peters, Verena: Congenital disorder of Glycosylation IId (CDG-IId) - a new entity : clinical presentation with Dandy-Walker malformation and myopathy / V. Peters, J.M. Penzien, G. Reiter, C. Körner, R. Hackler, B. Assmann, J. Fang, J.R. Schaefer, G.F. … , 03. April 2002. - 6 S.
In: Neuropediatrics, ISSN 1439-1899. 33(2002), 01, Seite 27-32
DOI: 10.1055/s-2002-23597
Okun, Jürgen G.: Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity / Jürgen G. Okun, Friederike Hörster, Lilla M. Farkas, Patrik Feyh, Angela Hinz, Sven Sauer, Georg F. … , 14 February 2002. - 7 S.
In: The journal of biological chemistry, ISSN 1083-351X. 277(2002), 17, Seite 14674-14680
DOI: 10.1074/jbc.M200997200
Schulze, Andreas: Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. In memoriam Horst Bickel. / Andreas Schulze, Ertan Mayatepek, Georg F. Hoffmann, 2002. - 11 S.
In: Clinica chimica acta, ISSN 1873-3492. 317(2002), 1, Seite 27-37
DOI: 10.1016/S0009-8981(01)00736-7
Okun, Jürgen G.: A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid : diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency / Jürgen G Okun, Stefan Kölker, Andreas Schulze, Dirk Kohlmüller, Katharina Olgemöller, Martin Lindner… , 19 September 2002. - 8 S.
In: Biochimica et biophysica acta, ISSN 1879-2618. 1584(2002), 2, Seite 91-98
DOI: 10.1016/S1388-1981(02)00296-2
Kölker, Stefan: Ca 2+ and Na + dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons / Stefan Kölker, Georg Köhr, Barbara Ahlemeyer, Jürgen G. Okun, Verena Pawlak, Friederike Hörster, Ert… , 2002. - 8 S.
In: Pediatric research, ISSN 1530-0447. 52(2002), 2, Seite 199-206
DOI: 10.1203/00006450-200208000-00011
Kölker, Stefan: NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria / Stefan Kölker, Verena Pawlak, Barbara Ahlemeyer, Jürgen G. Okun, Friederike Hörster, Ertan Mayatepek… , 11 July 2002. - 8 S.
In: European journal of neuroscience, ISSN 1460-9568. 16(2002), 1, Seite 21-28
DOI: 10.1046/j.1460-9568.2002.02055.x
Ahlemeyer, Barbara: Increase in glutamate-induced neurotoxicity by activated astrocytes involves stimulation of protein kinase C / Barbara Ahlemeyer, Stefan Kölker, Yuan Zhu, Georg F. Hoffmann, Josef Krieglstein, 24 July 2002. - 12 S.
In: Journal of neurochemistry, ISSN 1471-4159. 82(2002), 3, Seite 504-515
DOI: 10.1046/j.1471-4159.2002.00994.x
Bräutigam, Christa: Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency / C. Bräutigam, K. Hyland, R. Wevers, R. Sharma, L. Wagner, G.-J. Stock, F. Heitmann, G.F. Hoffmann, 18. September 2002. - 5 S.
In: Neuropediatrics, ISSN 1439-1899. 33(2002), 3, Seite 113-117
DOI: 10.1055/s-2002-33673
Bubel, Stefanie: CDG (congenital disorders of glycosylation) Zur Differenzialdiagnose hereditärer Ataxien im Erwachsenenalter / S. Bubel, V. Peters, C. Klein, R. Hackler, J.R. Schaefer, J. Hagenah, G.F. Hoffmann, P. Vieregge, 17 February 2014. - 7 S.
In: Der Nervenarzt, ISSN 1433-0407. 73(2002), 8, Seite 754-760
DOI: 10.1007/s00115-002-1351-y
Meyburg, Jochen: Acylcarnitine profiles of preterm infants over the first four weeks of life / Jochen Meyburg, Andreas Schulze, Dirk Kohlmueller, Johannes Pöschl, Otwin Linderkamp, Georg F. Hoffm… , April 22, 2002. - 4 S.
In: Pediatric research, ISSN 1530-0447. 52(2002), 5, Seite 720-723
DOI: 10.1203/00006450-200211000-00018
Klose, Daniela: Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany / Daniela A. Klose, Stefan Kölker, Beate Heinrich, Viola Prietsch, Ertan Mayatepek, Rüdiger von Kries,… , December 1, 2002. - 8 S.
In: Pediatrics, ISSN 1098-4275. 110(2002), 6, Seite 1204-1211
DOI: 10.1542/peds.110.6.1204
Knerr, Ina M.: Glutaric aciduria type III : A distinctive non-disease? / I. Knerr, J. Zschocke, U. Trautmann, L. Dorland, T.J. de Koning, P. Müller, E. Christensen, F.K. Tre… , 01 November 2002. - 8 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 25(2002), 6, Seite 483-490
DOI: 10.1023/A:1021207419125
Hoffmann, Georg F.: Inherited metabolic diseases / Georg F. Hoffmann .... -
Philadelphia, Pa. [u.a.]: Lippincott, Williams & Wilkins, 2002. - IX, 435 S. : graph. Darst., ISBN 978-0-7817-2900-0
(Core handbooks in pediatrics)
Assmann, Birgit: A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations / B. Assmann, R. Hackler, V. Peters, J.R. Schaefer, T. Arndt, E. Mayatepek, J. Jaeken, G.F. Hoffmann, 2001. - 6 S.
In: Neuropediatrics, ISSN 1439-1899. 32(2001), 06, Seite 313-318
DOI: 10.1055/s-2001-20407
Forstner, Rosemarie: Glutaric aciduria type I : ultrasonographic demonstration of early signs / Rosemarie Forstner, Georg F. Hoffmann, Ingemar Gassner, Peter Heideman, Johannis B.C. De Klerk, Burg… , 01 January 1999. - 6 S.
In: Pediatric radiology, ISSN 1432-1998. 29(1999), 2, Seite 138-143
DOI: 10.1007/s002470050558
Serpi, Mario: Intestinale Transportstörung : Ungewöhnliches Leitsymptom bei einem Neugeborenem mit Carbamylphosphat-Synthetasemangel / M. Serpi, G.F. Hoffmann, R. Kircheisen, C. Vnencak-Jones, D. Feist, B. Wermuth, E. Zilow, W. Springe… , 1999. - 9 S.
In: Pädiatrische Praxis, ISSN 0030-9346. 56(1999), Seite 375-383
Böhler, Thomas: Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants / Thomas Böhler, Thomas Krämer, Andreas R Janecke, Georg Friedrich Hoffmann, Otwin Linderkamp, 10 March 1999. - 12 S.
In: Early human development, ISSN 1872-6232. 54(1999), 3, Seite 223-234
DOI: 10.1016/S0378-3782(98)00097-8
Krämer, Thomas: Anwendung der indirekten Kalorimetrie zur Ernährungssteuerung bei kleinen Frühgeborenen / Thomas Krämer, Thomas Böhler, Andreas R. Janecke, Georg Friedrich Hoffmann, Otwin Linderkamp, 1999. - 5 S.
In: Klinische Pädiatrie, ISSN 1439-3824. 211(1999), 5, Seite 389-393
DOI: 10.1055/s-2008-1043817
Linderkamp, Otwin: Impaired deformability of erythrocytes and neutrophils in children with newly diagnosed insulin-dependent diabetes mellitus / O. Linderkamp, P. Ruef, E.P. Zilow, G.F. Hoffmann, 1999. - 5 S.
In: Diabetologia, ISSN 1432-0428. 42(1999), 7, Seite 865-869
DOI: 10.1007/s001250051239
Zschocke, Johannes: Vademecum metabolicum : manual of metabolic paediatrics / Johannes Zschocke; Georg F. Hoffmann. In cooperation with Claude Bachmann ... Foreword by James V. L… . - 1. ed.. -
Stuttgart: Schattauer, 1999. - 111 S. : graph. Darst., ISBN 978-3-7945-2039-8
Zschocke, Johannes: Vademecum metabolicum : Diagnose und Therapie erblicher Stoffwechselerkrankungen / Johannes Zschocke; Georg F. Hoffmann. Mit einem Geleitw. von Udo Wendel. In Zusammenarb. mit Claude … . - 2., überarb. und erw. Aufl.. -
Friedrichsdorf: Milupa, 1999. - 111 S : graph. Darst, ISBN 978-3-7945-2029-9
Mayatepek, Ertan: Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy : a new genetic disease? / E. Mayatepek, G.F. Hoffmann, R. Baumgartner, A. Schulze, C. Jakobs, F.K. Trefz, H.J. Bremer, May 1996. - 6 S.
In: European journal of pediatrics, ISSN 1432-1076. 155(1996), 5, Seite 398-403
DOI: 10.1007/BF01955272
Mayatepek, Ertan: Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria / E. Mayatepek, R.J.A. Wanders, M. Becker, H.J. Bremer, G.F. Hoffmann, 01 March 1995. - 4 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 18(1995), 2, Seite 249-252
DOI: 10.1007/BF00711780
Mayatepek, Ertan: 5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia / E. Mayatepek, G.F. Hoffmann, A. Larsson, K. Becker, H.J. Bremer, 01 January 1995. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 18(1995), 1, Seite 83-84
DOI: 10.1007/BF00711382
Hoffmann, Georg F.: Neurological manifestations of organic acid disorders / G.F. Hoffmann, K.M. Gibson, F.K. Trefz, W.L. Nyhan, H.J. Bremer, D. Rating, 1994. - 7 S.
In: European journal of pediatrics, ISSN 1432-1076. 153(1994), suppl. 1, Seite S94-S100
DOI: 10.1007/BF02138786
Hoffmann, Georg F.: Die Mevalonazidurie : eine Stoffwechselerkrankung der Cholesterin- und Isoprenoidsynthese / vorgelegt von Georg Friedrich Hoffmann, 1993. - 183 S. : Ill.
Pädiatrie : Grundlagen und Praxis / Georg F. Hoffmann, Michael J. Lentze, Jürgen Spranger, Fred Zepp, Reinhard Berner, Hrsg. ; begründet… . - 5., vollständig überarbeitete Auflage. -
Berlin ; [Heidelberg]: Springer, [2020], ISBN 978-3-662-60299-7
(Springer Reference Medizin)
Pädiatrie : Grundlagen und Praxis; ... 447 Tabellen / Georg F. Hoffmann ... (Hrsg.). Begr. von Michael J. Lentze .... - 4., vollst. überarb. Aufl.. -
Berlin ; Heidelberg: Springer, 20XX-, ISBN 978-3-642-41865-5

IDs

GND:

115652868

Links

Hoffmann, Georg F. in ...

Export Publikationsliste

heiBIB

Bei fehlerhaften oder unvollständigen Angaben wenden Sie sich bitte an biblio@ub.uni-heidelberg.de.

Informationen zu heiBIB (inkl. Einbettung der Publikationslisten in eigene WWW-Seiten).

Impressum / Datenschutz Design