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Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications

The Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway caused by mutations in the mitochondrial ornithine transporter, ORNT1 (SLC25A15). In general, the majority of patients with HHH syndrome come to medical attention d...

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Bibliografiske detaljer
Main Authors: Tezcan, Kamer, Louie, Kristal T., Qu, Yong, Velasquez, Jorge, Zaldivar, Frank, Rioseco-Camacho, Natalia, Camacho, José Angel
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2011
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509867/
https://ncbi.nlm.nih.gov/pubmed/23430880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_71
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