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Partial ornithine transcarbamylase deficiency simulating Reye syndrome

✍ Scribed by Tohru Yokoi; Kazuya Honke; Takashi Funabashi; Ritsuko Hayashi; Yukichi Suzuki; Noboru Taniguchi; Masakazu Hosoya; Takeyori Saheki


Book ID
119458653
Publisher
Elsevier Science
Year
1981
Tongue
English
Weight
259 KB
Volume
99
Category
Article
ISSN
1097-6833

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πŸ“œ SIMILAR VOLUMES


Partial ornithine transcarbamylase defic
✍ K. Hayasaka; K. Metoki; S. Ishiguro; S. Kato; T. Chiba; M. Hirooka; M. Kikuchi; πŸ“‚ Article πŸ“… 1987 πŸ› Springer 🌐 English βš– 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