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Journal of Inherited Metabolic Disease|December 2, 2025
Human d-Glycerate Kinase, Encoded by GLYCTK and Deficient in d-Glyceric Aciduria, Is a Mitochondrial EnzymeAnne Korwitz-Reichelt, Daniel Schulke, Melanie Walter, et al.Metabolic Brain Disease|August 1, 2019
Acylpeptide hydrolase (APEH) sequence variants with potential impact on the metabolism of the antiepileptic drug valproic acidDespina Tsortouktzidis, Kathleen Grundke, Claudia Till, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|September 11, 2017
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded proteinStephanie Oerum, Martine Roovers, Michael Leichsenring, et al.Pageof 1