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Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier

✍ Scribed by Al-Haggar, Mohammad; Largiadèr, Carlo R.; Abdel-Hady, Dina; Barakat, Tarik; Nuoffer, Jean-Marc; Al-Refaei, Abdel-Aziz


Book ID
122319968
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
289 KB
Volume
124
Category
Article
ISSN
0020-7292

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Partial ornithine transcarbamylase defic
✍ K. Hayasaka; K. Metoki; S. Ishiguro; S. Kato; T. Chiba; M. Hirooka; M. Kikuchi; 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 665 KB

Females heterozygous for the X-linked urea cycle disorder, ornithine transcarbamylase (OTC) deficiency have a significant risk of developing hyperammonaemia. Diagnosis of this genetic defect in a proband is the essential starting point for family studies. By an immunohistochemical analysis of the li