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Ornithine carbamoyltransferase deficiency: Unusual clinical findings and novel mutation

✍ Scribed by V. E. Shih; A. P. Safran; A. H. Ropper; M. Tuchman


Book ID
110225342
Publisher
Springer
Year
1999
Tongue
English
Weight
34 KB
Volume
22
Category
Article
ISSN
0141-8955

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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