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Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn

✍ Scribed by G. Dunkel; C. R. Scriver; C. L. Clow; S. Melançon; B. Lemieux; A. Grenier; C. Laberge


Book ID
105313270
Publisher
Springer
Year
1989
Tongue
English
Weight
649 KB
Volume
12
Category
Article
ISSN
0141-8955

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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