✦ LIBER ✦

Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity

✍ Scribed by P.Suzanne Hart; Brian O. Barnstein; Julie R. Secor McVoy; Reuben Matalon; Barry Wolf

Book ID: 113383008
Publisher: Elsevier Science
Year: 1992
Tongue: English
Weight: 330 KB
Volume: 48
Category: Article
ISSN: 0885-4505
DOI: 10.1016/0885-4505(92)90046-2

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation (Q456H) Is the Most Common Caus

Mutation (Q456H) Is the Most Common Cause of Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States

✍ Karen J. Norrgard; Robert J. Pomponio; Katie L. Swango; Jeanne Hymes; Thomas R. 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 166 KB

Double mutation (A171T) and (D444H) is a

Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States

✍ 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