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Clinical and Functional Characterization of a Human ORNT1 Mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome

✍ Scribed by Camacho, José A; Mardach, Rebecca; Rioseco-Camacho, Natalia; Ruiz-Pesini, Eduardo; Derbeneva, Olga; Andrade, Dario; Zaldivar, Frank; Qu, Yong; Cederbaum, Stephen D


Book ID
119971859
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
471 KB
Volume
60
Category
Article
ISSN
0031-3998

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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expande