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Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation

✍ Scribed by O.P. van Diggelen; J. Zaremba; Wang He; J. L. M. Keulemans; A. M. Boer; A. J. J. Reuser; M. G. E. M. Ausems; J. A. M. Smeitink; J. Kowalczyk; E. Pronicka; D. Rokicki; E. Tarnowska-Dziduszko; A. L. J. Kneppers; E. Bakker

Book ID: 115091814
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 751 KB
Volume: 50
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1996.tb02380.x

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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