Associated Papers
Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report.
De Bruyne P et al.
Pediatric Transplantation, 2021
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 2021
33563892 (PubMed )
Supplement: 41392_2020_412_MOESM16_ESM.xlsx › Supplementary_Table_S15
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.
Olivieri G et al.
Orphanet Journal of Rare Diseases, 2019
Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant.
Marobbio CM et al.
Molecular Genetics and Metabolism, 2015
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
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
Fiermonte G et al.
The Journal of Biological Chemistry, 2003
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Salvi S et al.
Human Mutation, 2001
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Salvi S et al.
Neurology, 2001
Diseases caused by defects of mitochondrial carriers: a review.
Palmieri F
Biochimica Et Biophysica Acta, 0
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