heiBIB: Garbade, Sven

Garbade, Sven Prof. Dr. Phil.Universität HeidelbergHeidelberg

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Publikationen in heiBIB

Betzler, Isabel R.: Response to Downie et al. / Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garb… , 14 January 2025. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 48(2025), 1, Artikel-ID e12837, Seite 1-2
DOI: 10.1002/jimd.12837
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
Mengler, Katharina: Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening / Katharina Mengler, MD, Sven F. Garbade, PhD, Florian Gleich, Dipl.VW, Eva Thimm, MD, Petra May, MD, … , August 2024. - 11 S. : Illustrationen
In: Pediatrics, ISSN 1098-4275. 154(2024), 2 vom: Aug., Artikel-ID e2023064370, Seite 1-11
DOI: 10.1542/peds.2023-064370
Mütze, Ulrike: Vitamin B12 deficiency newborn screening / Ulrike Mütze, MD, Florian Gleich, Dipl VW, Dorothea Haas, MD, Michael S. Urschitz, MD, MSc, Wulf Rös… , August 2024. - 10 S.
In: Pediatrics, ISSN 1098-4275. 154(2024), 2 vom: Aug., Artikel-ID e2023064809, Seite 1-10
DOI: 10.1542/peds.2023-064809
Weiß, Claudia: Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region : a population-based observational study / Claudia Weiß, Lena-Luise Becker, Johannes Friese, Astrid Blaschek, Andreas Hahn, Sabine Illsinger, O… , December 2024. - 13 S. : Illustrationen
In: The lancet, ISSN 2666-7762. 47(2024) vom: Dez., Artikel-ID 101092, Seite 1-13
DOI: 10.1016/j.lanepe.2024.101092
Harting, Inga: Age-appropriate or delayed myelination? : scoring myelination in routine clinical MRI / Inga Harting, Sven F. Garbade, Stefan D. Roosendaal, Hannah Fels-Palesandro, Clara Raudonat, Alexand… , September 2024. - 8 S. : Illustrationen
In: European journal of paediatric neurology, ISSN 1532-2130. 52(2024) vom: Sept., Seite 59-66
DOI: 10.1016/j.ejpn.2024.07.010
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
Interdonato, Livia: Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation / Livia Interdonato, Nastassja Himmelreich, Sven F. Garbade, Dan Wen, Marina Morath, Rosanna Di Paola,… , 3 September 2024. - 5 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 143(2024), 1/2 vom: Okt., Artikel-ID 108571, Seite 1-5
DOI: 10.1016/j.ymgme.2024.108571
Himmelreich, Nastassja: Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants : a PAH landscape / Nastassja Himmelreich, Santiago Ramón-Maiques, Rosa Navarrete, Natalia Castejon-Fernandez, Sven F. G… , July 2024. - 11 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 142(2024), 3 vom: Juli, Artikel-ID 108514, Seite 1-11
DOI: 10.1016/j.ymgme.2024.108514
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
Julià-Palacios, Natalia: The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency / Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Hor… , May 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 3 vom: Mai, Seite 447-462
DOI: 10.1002/jimd.12723
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
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
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-Besson, Elena: 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
Lenz, Dominic: Etiology and outcome of adult and pediatric acute liver failure in Europe / Dominic Lenz, Marianne Hørby Jørgensen, Deirdre Kelly, Vincenzo Cardinale, Anja Geerts, Isabel Gonça… , July 2023. - 6 S.
In: Journal of pediatric gastroenterology and nutrition, ISSN 1536-4801. 77(2023), 1, Seite 115-120
DOI: 10.1097/MPG.0000000000003777
Pfeffer, Tilman: Carnosinase-1 knock-out reduces kidney fibrosis in type-1 diabetic mice on high fat diet / Tilman Pfeffer, Charlotte Wetzel, Philip Kirschner, Maria Bartosova, Tanja Poth, Constantin Schwab, … , 14 June 2023. - 15 S.
In: Antioxidants, ISSN 2076-3921. 12(2023), 6, Artikel-ID 1270, Seite 1-15
DOI: 10.3390/antiox12061270
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
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
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
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
Weiß, Claudia: Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg : an observational cohort study / Claudia Weiß, Andreas Ziegler, Lena-Luise Becker, Jessika Johannsen, Heiko Brennenstuhl, Gudrun Schr… , January 2022. - 11 S.
In: The lancet child & adolescent health, ISSN 2352-4650. 6(2022), 1, Seite 17-27
DOI: 10.1016/S2352-4642(21)00287-X
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
Himmelreich, Nastassja: Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations / Nastassja Himmelreich, Riccardo Montioli, Sven F. Garbade, Jeffrey Kopesky, Sarah H. Elsea, Carla Ca… , 22 November 2022. - 23 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 4, Seite 359-381
DOI: 10.1016/j.ymgme.2022.11.003
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
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
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
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
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
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
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
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
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
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
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
Garbade, Sven: Impact of glycogen storage disease type I on adult daily life : a survey / Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas and Sa… , 03 September 2021. - 10 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 371, Seite 1-10
DOI: 10.1186/s13023-021-02006-w
Becker, Hera: Core content of pediatric specialty training Prioritization using the Delphi method / Hera Becker, Sven Garbade, Johannes Forster, Hans-Martin Bosse, Sören Huwendiek, Thomas Opladen & Fo… , 2021. - 9 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 168(2021), 3, Seite 244-252
DOI: 10.1007/s00112-019-0706-4
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
Brennenstuhl, Heiko: Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation : a cross-sectional analysis of the Emergency Events Database / Heiko Brennenstuhl, Manuel Will, Elias Ries, Konstantin Mechler, Sven Garbade, Markus Ries, 2021. - 8 S.
In: BMJ open, ISSN 2044-6055. 11(2021), 6, Artikel-ID e046359, Seite 1-8
DOI: 10.1136/bmjopen-2020-046359
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
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
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
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
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
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
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
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
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
Brennenstuhl, Heiko: Temperature-related disasters in Europe : a cross-sectional analysis of the emergency events database from a pediatric perspective / Heiko Brennenstuhl, MD; Manuel Will, PhD; Elias Ries; Konstantin Mechler, MD; Sven Garbade, PhD; Mar… , November 22, 2019. - 29 S.
In: medRxiv. (2019), Artikel-ID 19012633, Seite 1-29
DOI: 10.1101/19012633
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
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
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
Boy, Nikolas: Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1 / Nikolas Boy, Sven F. Garbade, Jana Heringer, Angelika Seitz, Stefan Kölker, Inga Harting, 11 February 2019. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 117-127
DOI: 10.1002/jimd.12033
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
Boy, Nikolas: Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1 / Nikolas Boy, Sven F. Garbade, Jana Heringer, Angelika Seitz, Stefan Kölker, Inga Harting, 11 February 2019. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 117-127
DOI: 10.1002/jimd.12033
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
Ries, Markus: Disasters in Germany and France : an analysis of the emergency events database from a pediatric perspective / Markus Ries, MD, PhD; Matthias Zielonka, MD; Noah Ries; Thomas Breil, MD; Sven Garbade, PhD; Konstan… , 20 June 2019. - 8 S.
In: Disaster medicine and public health preparedness, ISSN 1938-744X. 13(2019), 5-6, Seite 958-965
DOI: 10.1017/dmp.2019.24
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
Garbade, Sven: Methoden der Wirtschaftspsychologie / Sven Garbade, 2018. - 46 S. : Illustrationen
In: Angewandte Wirtschaftspsychologie. (2018), Seite 87-132
Garbade, Sven: Age-related changes and reference values of bicaudate ratio and sagittal brainstem diameters on MRI / Sven F. Garbade, Nikolas Boy, Jana Heringer, Stefan Kölker, Inga Harting, 05. Juni 2018. - 7 S.
In: Neuropediatrics, ISSN 1439-1899. 49(2018), 04, Seite 269-275
DOI: 10.1055/s-0038-1660475
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
Weigand, Tim: Carnosine catalyzes the formation of the oligo/polymeric products of methylglyoxal / Tim Weigand, Benjamin Singler, Thomas Fleming, Peter Nawroth, Karel D. Klika, Christian Thiel, Hans … , April 05, 2018. - 14 S.
In: Cellular physiology and biochemistry, ISSN 1421-9778. 46(2018), 2, Seite 713-726
DOI: 10.1159/000488727
Bürger, Corinna: Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events / Corinna Buerger, Sven F. Garbade, Fabienne Dietrich Alber, Susan E. Waisbren, Robert McCarter, Stefa… , 2019. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 2, Seite 243-253
DOI: 10.1002/jimd.12013
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
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
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
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
Stremmel, Wolfgang: Blood trimethylamine-N-oxide originates from microbiota mediated breakdown of phosphatidylcholine and absorption from small Intestine / Wolfgang Stremmel, Kathrin V. Schmidt, Vera Schuhmann, Frank Kratzer, Sven F. Garbade, Claus-Dieter … , January 27, 2017. - 9 S.
In: PLOS ONE, ISSN 1932-6203. 12(2017,1) Artikel-Nummer e0170742, 9 Seiten
DOI: 10.1371/journal.pone.0170742
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
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
Zessin, Ulli: The Relationship between self-compassion and well-being : a Mmeta-analysis / Ulli Zessin, Oliver Dickhäuser, Sven Garbade, 26 August 2015. - 25 S.
In: Applied psychology: health and well-being, ISSN 1758-0854. 7(2015), 3, Seite 340-364
DOI: 10.1111/aphw.12051
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
DOI: 10.1007/s10545-014-9676-9
Garbade, Sven: Statische Augenfolgebewegungen: Beeinflussung durch Distraktoren und Kopplung mit visueller Aufmerksamkeit / von Sven Garbade. - 1. Aufl.. -
Berlin: Logos Berlin, 2004. - x, 171 S. : Ill., graph. Darst., ISBN 978-3-8325-0495-3

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