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Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency

✍ Scribed by Barry Wolf; Robert Spencer; Tucker Gleason


Book ID
117848014
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
72 KB
Volume
140
Category
Article
ISSN
1097-6833

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Biotinidase deficiency is inherited as an autosomal recessive trait that, unless treated with pharmacologic doses of biotin, can result in neurologic and cutaneous symptoms. We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascert