Associated Papers
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D et al.
Orphanet Journal of Rare Diseases, 2015
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
Wang JF et al.
Plos One, 2012
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Tessa A et al.
Human Mutation, 2009
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Camacho JA et al.
Pediatric Research, 2006
[Mitochondrial ornithine transporter deficiency].
Tsujino S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
A novel mutation, P126R, in a Japanese patient with HHH syndrome.
Miyamoto T et al.
Pediatric Neurology, 2002
[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].
Tsujino S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2001
Diseases caused by defects of mitochondrial carriers: a review.
Palmieri F
Biochimica Et Biophysica Acta, 0
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