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Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene

✍ Scribed by Katie L. Swango; Mübeccel Demirkol; Gülden Hüner; E. Pronicka; Jolanta Sykut-Cegielska; Andreas Schulze; B. Wolf


Book ID
106136956
Publisher
Springer
Year
1998
Tongue
English
Weight
62 KB
Volume
102
Category
Article
ISSN
0340-6717

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Double mutation (A171T) and (D444H) is a
✍ Karen J. Norrgard; Robert J. Pomponio; Katie L. Swango; Jeanne Hymes; Thomas Rey 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 356 KB 👁 1 views

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