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Journal of Inherited Metabolic Disease|January 29, 2010
Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiencyCurtis R Coughlin, Can FiciciogluJournal of Inherited Metabolic Disease|January 29, 2010
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiencySaskia Koene, Peter H G M Willems, Peggy Roestenberg, et al.Journal of Inherited Metabolic Disease|April 6, 2023
Exploring genotype-phenotype correlations in glutaric aciduria type 1Imke M E Schuurmans, Bianca Dimitrov, Julian Schröter, et al.Journal of Inherited Metabolic Disease|April 1, 2023
Physical training and high-protein diet improved muscle strength, parent-reported fatigue, and physical quality of life in children with Pompe diseaseL E Scheffers, O C Somers, K Dulfer, et al.Journal of Inherited Metabolic Disease|March 18, 2015
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduriaLiyan Hu, Amit V Pandey, Cécile Balmer, et al.Journal of Inherited Metabolic Disease|April 12, 2021
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolismLaura K M Steinbusch, Ping Wang, Huub W A H Waterval, et al.Journal of Inherited Metabolic Disease|September 14, 2012
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parametersNikolas Boy, Gisela Haege, Jana Heringer, et al.Journal of Inherited Metabolic Disease|September 15, 2012
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 geneBelén Pérez, Celia Medrano, Maria Jesus Ecay, et al.Journal of Inherited Metabolic Disease|September 15, 2012
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatmentNeal J Weinreb, Jack Goldblatt, Jacobo Villalobos, et al.Journal of Inherited Metabolic Disease|September 15, 2012
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutationsLaura M Pollard, Julie R Jones, Tim C WoodPageof 429