Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.

In biotin-responsive multiple carboxylase deficiency, a characteristic organic aciduria reflects in vivo deficiency of mitochondrial propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase, and pyruvate carboxylase. A possible primary or secondary defect in biotin absorption leads to an infantil...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Packman, S, Caswell, N, Gonzalez-Rios, M C, Kadlecek, T, Cann, H, Rassin, D, McKay, C
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1984
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684382/
https://ncbi.nlm.nih.gov/pubmed/6141728
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