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Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency

✍ Scribed by David M. Felig; Saul W. Brusilow; James L. Boyer


Book ID
118881846
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
305 KB
Volume
109
Category
Article
ISSN
0016-5085

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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