Biotinidase deficiency: Novel mutations
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Barry Wolf; Kevin P. Jensen; Bruce Barshop; Miriam Blitzer; Martha Carlson; Davi
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Article
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2005
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John Wiley and Sons
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English
β 65 KB
Biotinidase deficiency is a defect in the recycling of the vitamin biotin. Biotin supplementation can markedly improve the neurological and cutaneous symptoms of affected children and prevent symptoms in children identified by newborn screening or treated since birth. We have determined thirteen nov