Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology
SourceJournal of Inherited Metabolic Disease, 18, (1995), pp. 643-645
Article / Letter to editor
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Journal of Inherited Metabolic Disease
SubjectCentral Nervous System; Chemistry, Clinical; Energy Metabolism; Fibroblasts; Genetics, Biochemical; Hereditary Diseases; Homocystinuria; Mental Disorders; Metabolic Diseases; Metabolic Processes (Non MeSH); Metabolism, Inborn Errors; Mitochondria; Mitochondrial Myopathies; Muscle, Skeletal; Mutation; Neural Tube Defects; Neuromuscular Diseases; Pregnancy Complications, Cardiovascular; Vascular Diseases
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