Title : Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.

Pub. Date : 1997 May

PMID : 9128289






1 Functional Relationships(s)
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1 The results in the five patients are in accordance with a primary defect of holocarboxylase synthetase due to a decreased affinity for biotin, in one patient combined with a decreased Vmax. Biotin holocarboxylase synthetase Homo sapiens