Concepedia
Statistics
Publications
47
Citations
3K
H-Index
33
Active since
1992
Affiliations
Heinrich Heine University Düsseldorf(Current)
Düsseldorf University Hospital
McGill University
Montreal Children's Hospital
University College London
Bernd Schwahn is an author at Heinrich Heine University Düsseldorf specializing in life sciences, biochemistry, and medicine.
Publications per year
1992–2022
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg et al. · Pediatric Research · 2006 · 271 citations · Full text
Medicine, Child Health, Pediatrics +3
Clinical presentation and outcome in a series of 88 patients with the cblC defect
Sabine Fischer, Martina Huemer, Matthias R. Baumgartner et al. · Journal of Inherited Metabolic Disease · 2014 · 169 citations · Full text
Medicine, Radiology, Diagnostic Pathology +1
Homocysteine‐betaine interactions in a murine model of 5,10‐methylenetetrahydrofolate reductase deficiency
Bernd Schwahn, Zhoutao Chen, M. D. Laryea et al. · The FASEB Journal · 2003 · 156 citations
Life Sciences, Biochemistry, Genetics +15
Glycine <b><i>N</i></b><b>‐methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia</b>
S. Harvey Mudd, R. Cerone, M. C. Schiaffino et al. · Journal of Inherited Metabolic Disease · 2001 · 150 citations
Life Sciences, Biochemistry, Genetics +11
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations
Sarah E. Flanagan, Ritika R. Kapoor, G Mali et al. · European Journal of Endocrinology · 2010 · 143 citations · Full text
Medicine, Genetics, Molecular Genetics +11
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