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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Biotinidase deficiency: a novel vitamin recycling defect.

The recent finding that biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency was stimulated new interest in the inherited disorders of biotin-dependent carboxylases. The clinical and biochemical features of biotinidase deficiency are discussed. We also speculate about two exciting areas currently being investigated: the localization of action biotinidase, and the possible role of the enzyme as a binding or carrier protein for biotin.[1]


  1. Biotinidase deficiency: a novel vitamin recycling defect. Wolf, B., Grier, R.E., Secor McVoy, J.R., Heard, G.S. J. Inherit. Metab. Dis. (1985) [Pubmed]
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