Garbade, Sven Prof. Dr. Phil.Universität HeidelbergHeidelberg
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- Okun, Jürgen G. (12)
- Boy, Nikolas (12)
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Recent publications in heiBIB 
(In total there are 94 publications catalogued)
- 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
