Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.

Three biotin-dependent enzymes, pyruvate carboxylase (PC), propionyl CoA carboxylase (PCC), and beta-methylcrotonyl CoA carboxylase (beta MCC), were biochemically characterized in fibroblasts from two patients with neonatal multiple carboxylase deficiency. Genetic complementation analyses indicated...

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Autores principales: Feldman, G L, Hsia, Y E, Wolf, B
Formato: Artigo
Lenguaje:Inglês
Publicado: 1981
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685129/
https://ncbi.nlm.nih.gov/pubmed/6794361
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