✦ LIBER ✦

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male

✍ Scribed by Atsushi Nishiyori; Dr. Makoto Yoshino; Yoshifumi Tananari; Toshinobu Matsuura; Ryuuji Hoshide; Ichiro Mastuda; Masataka Mori; Hirohisa Kato

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 275 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380110144

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The R40H mutation in a late onset type o

The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients

✍ Atsushi Nishiyori; M. Yoshino; Hirohisa Kato; Toshinobu Matsuura; Ryuuji Hoshide 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 139 KB

Paternal transmission and slow eliminati

Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients

✍ Sanae Numata; Eimei Harada; Yasuki Maeno; Isao Ueki; Yoriko Watanabe; Chieko Fuj 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 223 KB

A novel missense mutation in exon 8 of t

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

✍ Akira Hata; Toshinobu Matsuura; Chiaki Setoyama; Kazuniro Shimada; Tohru Yokoi; 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 698 KB

Experience of continuous haemodiafiltrat

Experience of continuous haemodiafiltration in a male neonate with ornithine transcarbamylase deficiency

✍ Shigehiro Enkai; Masaki Yamamoto; Kaori Hayashi; Masaki Kobayashi; Tomohiro Sasa 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 130 KB

Asymptomatic and late-onset ornithine tr

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: Clinical, biochemical and DNA analyses in a four-generation family

✍ Ausems, M. G. E. M.; Bakker, E.; Berger, R.; Duran, M.; van Diggelen, O. P.; Keu 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB 👁 2 views

We describe a 4-generation family in which a previously healthy 10-year-old boy died of late-onset ornithine transcarbamylase (OTC) deficiency. Pedigree analysis and allopurinol loading tests in female relatives were not informative. A missense mutation (A208T) in the OTC gene was detected in the de

Late-onset ornithine carbamyl transferas

Late-onset ornithine carbamyl transferase deficiency in a male patient: Detailed enzyme studies

✍ A. K. Holmes; B. Fowler; I. B. Sardharwalla 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 230 KB