Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.

We report here the expression of biotin-responsive multiple carboxylase deficiency in cultured lymphoblasts of a patient whose fibroblasts belong to the bio genetic complementation group. Cultured lymphoblasts from the patient lost propionyl-CoA carboxylase (PCC) and beta-methylcrotonyl-CoA carboxyl...

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Detalhes bibliográficos
Main Authors: Saunders, M E, Sherwood, W G, Duthie, M, Surh, L, Gravel, R A
Formato: Artigo
Idioma:Inglês
Publicado em: 1982
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685355/
https://ncbi.nlm.nih.gov/pubmed/7102675
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