The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

BACKGROUND: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan. Acute clinical signs include intermittent episodes of vomiting, confusion or c...

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Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Martinelli, Diego, Diodato, Daria, Ponzi, Emanuela, Monné, Magnus, Boenzi, Sara, Bertini, Enrico, Fiermonte, Giuseppe, Dionisi-Vici, Carlo
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Review
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4358699/
https://ncbi.nlm.nih.gov/pubmed/25874378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0242-9
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