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An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

✍ Scribed by A. B. Burlina; A. Peduto; A. Di Palma; A. Bellizzi; D. Sperlì; A. Morrone; A. P. Burlina


Publisher
Springer
Year
2006
Tongue
English
Weight
175 KB
Volume
29
Category
Article
ISSN
0141-8955

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Clinical and biochemical heterogeneity i
✍ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 395 KB 👁 2 views

A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous fo