Associated Papers
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D et al.
Orphanet Journal of Rare Diseases, 2015
A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.
Ersoy Tunalı N et al.
Molecular Genetics and Metabolism, 2014
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
Wang JF et al.
Plos One, 2012
Retinal risks of high-dose ornithine supplements: a review.
Hayasaka S et al.
The British Journal of Nutrition, 2011
Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.
Sokoro AA et al.
Journal of Inherited Metabolic Disease, 2010
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
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Salvi S et al.
Human Mutation, 2001
[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].
Tsujino S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2001
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
Miyamoto T et al.
Journal of Human Genetics, 2001
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Tsujino S et al.
Annals of Neurology, 2000
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