heiBIB: Kölker, Stefan

Kölker, Stefan Prof. Dr. med.Universität HeidelbergHeidelberg

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englisch (192)
deutsch (7)

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Publikationen in heiBIB

Doll, Elena Sophia: How do parents decide on genetic testing in pediatrics? : A systematic review / Elena Sophia Doll, Seraina Petra Lerch, Katja Maria Schmalenberger, Karla Alex, Stefan Kölker, Heiko… , 19 February 2025. - 14 S. : Diagramme
In: Genetics in medicine, ISSN 1530-0366. 27(2025), 5 vom: Mai, Artikel-ID 101390, Seite 1-14
DOI: 10.1016/j.gim.2025.101390
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
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
Betzler, Isabel R.: Comparative analysis of gene and disease selection in genomic newborn screening studies / Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garb… , September 2024. - 26 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 5 vom: Sept., Seite 945-970
DOI: 10.1002/jimd.12750
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
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
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
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
Schumann, Anke: The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria / Anke Schumann, Marion Brutsche, Monique Havermans, Sarah C. Grünert, Stefan Kölker, Olaf Groß, Lucia… , 11 May 2023. - 15 S.
In: Scientific reports, ISSN 2045-2322. 13(2023) vom: Mai, Artikel-ID 7677, Seite 1-15
DOI: 10.1038/s41598-023-34373-8
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
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
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
Dello Strologo, Luca: Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia : a multicenter analysis / Luca Dello Strologo, Marco Spada, Carlo Dionisi Vici, Marta Ciofi Degli Atti, Michelle Rheault, Anna… , 11 October 2022. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 3 vom: Nov., Seite 265-272
DOI: 10.1016/j.ymgme.2022.09.010
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
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
Mütze, Ulrike: How longitudinal observational studies can guide screening strategy for rare diseases / Ulrike Mütze, Katharina Mengler, Nikolas Boy, Florian Gleich, Thomas Opladen, Sven F. Garbade, Stefa… , 29 April 2022. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 45(2022), 5, Seite 889-901
DOI: 10.1002/jimd.12508
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
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
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
Scharping, Mara: Unmet needs of parents of children with Urea Cycle disorders / Mara Scharping, Heiko Brennenstuhl, Sven F. Garbade, Beate Wild, Roland Posset, Matthias Zielonka, S… , 12 May 2022. - 15 S.
In: Children, ISSN 2227-9067. 9(2022), 5, Artikel-ID 712, Seite 1-15
DOI: 10.3390/children9050712
Kölker, Stefan: Rare disease registries are key to evidence-based personalized medicine : highlighting the european experience / Stefan Kölker, Florian Gleich, Ulrike Mütze and Thomas Opladen on behalf of Scientific Consortia of … , 04 March 2022. - 11 S.
In: Frontiers in endocrinology, ISSN 1664-2392. 13(2022), Artikel-ID 832063, Seite 1-11
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
Molema, Femke: Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism : an overview on European data / Femke Molema, Diego Martinelli, Friederike Hörster, Stefan Kölker, Trine Tangeraas, Barbara de Konin… , May 2021. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 3 vom: Mai, Seite 593-605
DOI: 10.1002/jimd.12318
Kožich, Viktor: Cystathionine β-synthase deficiency in the E-HOD registry-part I : pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis / Viktor Kožich, Jitka Sokolová, Andrew A. M. Morris, Markéta Pavlíková, Florian Gleich, Stefan Kölker… , 2021. - 16 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 3, Seite 677-692
DOI: 10.1002/jimd.12338
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
Boy, Nikolas: Subdural hematoma in glutaric aciduria type 1 : high excreters are prone to incidental SDH despite newborn screening / Nikolas Boy, Alexander Mohr, Sven F. Garbade, Peter Freisinger, Jana Heringer-Seifert, Angelika Seit… , 2021
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 6, Seite 1343-1352$10
DOI: 10.1002/jimd.12436
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
Opladen, Thomas: U-IMD : the first Unified European registry for inherited metabolic diseases / Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Ka… , 18 February 2021. - 10 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 95, Seite 1-10
DOI: 10.1186/s13023-021-01726-3
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
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
Hörster, Friederike: Delineating the clinical spectrum of isolated methylmalonic acidurias : cblA and mut / Friederike Hörster, Ali Tunç Tuncel, Florian Gleich, Tanja Plessl, Sean D. Froese, Sven F. Garbade, … , 2021. - 22 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 1, Seite 193-214
DOI: 10.1002/jimd.12297
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
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
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
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
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
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
Ebrahimi-Fakhari, Darius: Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia / Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D'Amore, Kathrin Eber… , 26 September 2020. - 16 S.
In: Brain, ISSN 1460-2156. 143(2020), 10 vom: Okt., Seite 2929-2944
DOI: 10.1093/brain/awz307
Dimitrov, Bianca: Organic acidurias : major gaps, new challenges, and a yet unfulfilled promise / Bianca Dimitrov, Femke Molema, Monique Williams, Jessica Schmiesing, Chris Mühlhausen, Matthias R. B… , 2021. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 1, Seite 9-21
DOI: 10.1002/jimd.12254
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
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
Illsinger, Sabine: Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants : expanding the neurological spectrum and therapeutic approaches / Sabine Illsinger, G. Christoph Korenke, Sylvia Boesch, Michael Nocker, Daniela Karall, Jean M. Nuoff… , 26 August 2020. - 8 S.
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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
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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
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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
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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
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Posset, Roland: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders / Roland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, Elisa Leão Teles, Carlo Dionisi-Vici… , 22 April 2016. - 12 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 5, Seite 661-672
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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
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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… , 25 October 2016. - 18 S.
In: Cell reports, ISSN 2211-1247. 17(2016), 4, Seite 1053-1070
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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
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
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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
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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
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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
Jamiolkowski, Dagmar: Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders / Dagmar Jamiolkowski, Stefan Kölker, Esther M. Glahn, Ivo Barić, Jiri Zeman, Matthias R. Baumgartner,… , [2016]. - 11 S. : Diagramme
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Heringer-Seifert, Jana: Impact of age at onset and newborn screening on outcome in organic acidurias / Jana Heringer, Vassili Valayannopoulos, Allan M. Lund, Frits A. Wijburg, Peter Freisinger, Ivo Barić… , 2016. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 3, Seite 341-353
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Sauer, Sven: Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I / Sven W. Sauer, Silvana Opp, Shoko Komatsuzaki, Anna-Eva Blank, Michel Mittelbronn, Peter Burgard, D.… . - 10 S.
In: Biochimica et biophysica acta, ISSN 1879-260X. 1852(2015), 5, S. 768-777
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Zielonka, Matthias: Severe acute subdural hemorrhage in a patient with glutaric aciduria type I after minor head trauma : a case report / Matthias Zielonka, Katrin Braun, Andreas Bengel, Angelika Seitz, Stefan Kölker, Nikolas Boy. - 5 S.
In: Journal of child neurology, ISSN 1708-8283. 30(2015), 8, S. 1065-1069
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Harting, Inga: 1 H-MRS in glutaric aciduria type 1 : impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites / Inga Harting, Nikolas Boy, Jana Heringer, Angelika Seitz, Martin Bendszus, Petra J.W. Pouwels, Stefa… , September 2015. - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 5, Seite 829-838
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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
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Kölker, Stefan: Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 2 : the evolving clinical phenotype / Stefan Kölker, Vassili Valayannopoulos, Alberto B. Burlina, Jolanta Sykut-Cegielska, Frits A. Wijbur… , November 2015. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1157-1158
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Kölker, Stefan: Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 1 : the initial presentation / Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, J… , November 2015. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1155-1156
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Kölker, Stefan: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 2 : the evolving clinical phenotype / Stefan Kölker, Vassili Valayannopoulos, Alberto B. Burlina, Jolanta Sykut-Cegielska, Frits A. Wijbur… , November 2015. - 16 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1059-1074
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Kölker, Stefan: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 1: the initial presentation / Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, J… , November 2015. - 17 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1041-1057
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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
Ruppert, Thomas: Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria / T. Ruppert, A. Schumann, H.J. Gröne, J.G. Okun, S. Kölker, M.A. Morath and S.W. Sauer. - 11 S.
In: Human molecular genetics, ISSN 1460-2083. 24(2015), 24, S. 7049-7059
DOI: 10.1093/hmg/ddv405
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.
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Tuncel, Ali Tunç: Maleic acid - but not structurally related methylmalonic acid : interrupts energy metabolism by impaired calcium homeostasis / Ali Tunç Tuncel ; Thorsten Ruppert ; Bei-Tzu Wang ; Jürgen Günther Okun ; Stefan Kölker ; Marina Ale…
In: PLOS ONE, ISSN 1932-6203. 10(2015,6) Artikel-Nr. e0128770, 19 S.
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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
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
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
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Garbade, Sven: Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models : a cohort study in 180 patients / Sven F. Garbade, Cheryl R. Greenberg, Mübeccel Demirkol, Gülden Gökçay, Antonia Ribes, Jaume Campist… , 9 May 2014. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 37(2014), 5, Seite 763-773
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Summar, Marshall L.: On the creation, utility and sustaining of rare diseases research networks : lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases / Marshall L. Summar, Fumio Endo, Stefan Kölker. - 4 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 113(2014), 1, S. 105-108
DOI: 10.1016/j.ymgme.2014.09.002
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
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Rüegger, Corinne M.: Cross-sectional observational study of 208 patients with non-classical urea cycle disorders / Corinne M. Rüegger ; Martin Lindner ... Stefan Kölker ... Christian Staufner ... Peter Burgard .... - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 37(2014), 1, S. 21-30
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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
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Summar, Marshall L.: The incidence of urea cycle disorders / Marshall L. Summar, Stefan Koelker, Debra Freedenberg, Cynthia Le Mons, Johannes Haberle, Hye-Seung … , 2013. - 2 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 110(2013), 1/2 vom: Sept./Okt., Seite 179-180
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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
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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
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Kölker, Stefan: Current concepts in organic acidurias : understanding intra- and extracerebral disease manifestation / Stefan Kölker, Peter Burgard, Sven W. Sauer, Jürgen G. Okun, 20 March 2013. - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 36(2013), 4, Seite 635-644
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Schumann, Anke: Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria : a 42-year follow-up / A. Haarmann, M. Mayr, S. Kölker, E.R. Baumgartner, J. Schnierda, H. Hopfer, O. Devuyst, M.R. Baumgar… , 17 September 2013. - 5 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 110(2013), 4, Seite 472-476
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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
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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)
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
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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
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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
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Grünert, Sarah: 3-methylcrotonyl-CoA carboxylase deficiency : clinical, biochemical, enzymatic and molecular studies in 88 individuals / Sarah C. Grünert, Martin Stucki, Raphael J. Morscher, Terttu Suormala, Celine Bürer, Patricie Burda,…
In: Orphanet journal of rare diseases, ISSN 1750-1172. 7(2012) Artikel-Nr. 31, 24 S.
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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
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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
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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
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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
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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
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Sauer, Sven: Erratum to: Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias / S.W. Sauer, S. Opp, A. Haarmann, J.G. Okun, S. Kölker, M.A. Morath, 11 February 2010. - 1 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 33(2010), 1, Seite 93
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Galy, Bruno: Iron regulatory proteins secure mitochondrial iron sufficiency and function / Bruno Galy, Dunja Ferring-Appel, Sven W. Sauer, Sylvia Kaden, Saïd Lyoumi, Herve Puy, Stefan Kölker,… , August 3, 2010. - 8 S.
In: Cell metabolism, ISSN 1932-7420. 12(2010), 2 vom: Aug., Seite 194-201
DOI: 10.1016/j.cmet.2010.06.007
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
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
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Sauer, Sven: Glutaric aciduria type I and methylmalonic aciduria : simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus / Sven W. Sauer, Silvana Opp, Anne Mahringer, Marcin M. Kamiński, Christian Thiel, Jürgen G. Okun, Ger… , 2010. - 9 S.
In: Biochimica et biophysica acta, ISSN 1879-260X. 1802(2010), 6, Seite 552-560
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Sauer, Sven: Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias / S.W. Sauer, S. Opp, A. Haarmann, J.G. Okun, S. Kölker, M.A. Morath, 10 October 2009. - 8 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 32(2009), 6, Seite 720-727
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Pöschl, Johannes: Gamma-Hydroxybutyric Acid Sedation in Neonates and Children Undergoing MR Imaging / J. Pöschl, S. Kölker, T. Bast, J. Brüssau, P. Ruef, O. Linderkamp, M. Bettendorf, 16. Juli 2007. - 3 S.
In: Klinische Pädiatrie, ISSN 1439-3824. 219(2007), 04, Seite 217-219
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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
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Kölker, Stefan: Glutarazidurie Typ I und Methylmalonazidurie : Mechanismus und Prävention der zerebralen Schädigung / vorgelegt von Stefan Kölker, 2006. - Getr. Zählung : Ill., graph. Darst.
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
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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
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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
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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
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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
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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
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

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