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Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.

Biotin-responsive multiple carboxylase deficiency is an inherited disorder of organic acid metabolism in man in which there are deficiencies of propionyl-coenzyme A (CoA), 3-methylcrotonyl-CoA, and pyruvate carboxylases that can be corrected with large doses of biotin. It has been proposed that the...

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Bibliografski detalji
Glavni autori: Burri, B J, Sweetman, L, Nyhan, W L
Format: Artigo
Jezik:Inglês
Izdano: 1981
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC370952/
https://ncbi.nlm.nih.gov/pubmed/6798072
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