Associated Papers
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience.
Ju H et al.
Orphanet Journal of Rare Diseases, 2025
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese Patients.
Nguyen KN et al.
Medicina (kaunas, Lithuania), 2024
A Novel Mutation of ORNT1 Detected in a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Child by Clinical Whole-Exome Sequencing.
Laochareonsuk W et al.
Journal of Pediatric Genetics, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim MJ et al.
Annals of Laboratory Medicine, 2023
Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.
Hoshino Y et al.
Internal Medicine (tokyo, Japan), 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.
Olivieri G et al.
Orphanet Journal of Rare Diseases, 2019
[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].
Guan HZ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy.
Qadri SK et al.
Annals of the Academy of Medicine, Singapore, 2016
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
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis.
Lee HH et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2014
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
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Camacho JA et al.
Pediatric Research, 2006
The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter.
Morizono H et al.
Molecular Genetics and Metabolism, 2005
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
Korman SH et al.
Journal of the Neurological Sciences, 2004
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
[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
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Salvi S et al.
Neurology, 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