Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

Josi A. Camacho, Rebecca Mardach, Natalia Rioseco-Camacho, Eduardo Ruiz-Pesini, Olga Derbeneva, Dario Andrade, Frank Zaldivar, Yong Qu, Stephen D. Cederbaum

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Medicine & Life Sciences