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Journal of Inherited Metabolic Disease|January 1, 1994
Genetic imprinting in the mouse: implications for gene regulationB M Cattanach, J JonesJournal of Inherited Metabolic Disease|January 1, 1994
Signals on proteins, intracellular targeting and inborn errors of organellar metabolismJ M Tager, J M Aerts, C van den Bogert, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneityC J Danpure, P R Jennings, P Fryer, et al.Journal of Inherited Metabolic Disease|December 9, 2023
Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transportMomoka Imai, Kosuke Kawaguchi, Masashi Morita, et al.Journal of Inherited Metabolic Disease|December 12, 2023
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1Sabine Jung-Klawitter, Petra Richter, Yuheng Yuan, et al.Journal of Inherited Metabolic Disease|November 28, 2023
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case seriesCharles R Lefèvre, Sophie Collardeau-Frachon, Nathalie Streichenberger, et al.Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.Journal of Inherited Metabolic Disease|August 2, 2023
Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challengesChristine Vianey-Saban, Nathalie Guffon, Alain Fouilhoux, et al.Pageof 429