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Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.

Holocarboxylase synthetase activity has been determined in fibroblasts of seven patients with the neonatal form of biotin-responsive multiple carboxylase deficiency. The normal Km for biotin was 15 +/- 3 nmol/l, while in the patients the values ranged from 48 to 1,062 nmol/l. The mean maximum veloci...

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Bibliografiske detaljer
Main Authors: Burri, B J, Sweetman, L, Nyhan, W L
Format: Artigo
Sprog:Inglês
Udgivet: 1985
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684574/
https://ncbi.nlm.nih.gov/pubmed/3920902
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