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Diagnosis of ornithine transcarbamylase deficiency secondary to p.Leu301Phe mutation in an adult patient

✍ Scribed by Morel, N.; Corne, C.; Aquaviva, C.; Besson, G.


Book ID
123243527
Publisher
Masson Editeur
Year
2012
Tongue
English
Weight
210 KB
Volume
168
Category
Article
ISSN
0035-3787

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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