Disease: Hyperornithinemia-hyperammonemia-homocitrullinuria
- A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs
- A child with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome treated with liver transplantation
- A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein
- A Novel Mutation of ORNT1 Detected in a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Child by Clinical Whole-Exome Sequencing
- A novel mutation, P126R, in a Japanese patient with HHH syndrome
- A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
- Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
- Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications
- Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options
- Amyloidogenic Propensity of Metabolites in the Uric Acid Pathway and Urea Cycle Critically Impacts the Etiology of Metabolic Disorders
- An Acute Encephalopathy Accelerated by a Large Amount of Milk Consumption
- Capillary electrophoresis for clinical problem solving: analysis of urinary diagnostic metabolites and serum proteins
- Chronic liver involvement in urea cycle disorders
- Chronic postnatal ornithine administration to rats provokes learning deficit in the open field task
- Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome
- Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
- Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the <em>SLC25A15</em> gene
- Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene
- Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders
- Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder
- Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia
- Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
- Creatine biosynthesis and transport in health and disease
- Creatine metabolism in urea cycle defects
- CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
- Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
- Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry
- Determination of plasma dibasic amino acids following trimethylsilyl-trifluoroacyl derivatization using gas chromatography-mass spectrometry
- Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan
- Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X
- Diseases caused by defects of mitochondrial carriers: a review
- Diseases Caused by Mutations in Mitochondrial Carrier Genes <em>SLC25</em>: A Review
- Disturbance of redox homeostasis by ornithine and homocitrulline in rat cerebellum: a possible mechanism of cerebellar dysfunction in HHH syndrome
- Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
- Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
- Evidence that the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome induce oxidative stress in brain of young rats
- Experimental evidence that ornithine and homocitrulline disrupt energy metabolism in brain of young rats
- Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism
- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans
- HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation
- HHH syndrome associated with callosal agenesis and disordered neuronal migration
- High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis
- Hyperornithinemia-hyperammonemia-homocitrullinuria (H.H.H.) syndrome
- Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition
- Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: A neonate receiving liver transplantation
- Hyperornithinemia-hyperammonemia-homocitrullinuria: a rare neurometabolic disorder in two siblings
- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia
- Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family
- Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy
- Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study
- Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report
- Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo
- Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium
- Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1
- Lactate/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report
- Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report
- Long-term follow-up of four patients affected by HHH syndrome
- 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
- Mitochondrial transporters of the SLC25 family and associated diseases: a review
- Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)
- Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis
- Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome
- Neurophysiological characteristics in argininemia: a case report
- Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association
- Ornithine and Homocitrulline Impair Mitochondrial Function, Decrease Antioxidant Defenses and Induce Cell Death in Menadione-Stressed Rat Cortical Astrocytes: Potential Mechanisms of Neurological Dysfunction in HHH Syndrome
- Ornithine and its role in metabolic diseases: An appraisal
- Ornithine In Vivo Administration Disrupts Redox Homeostasis and Decreases Synaptic Na(+), K (+)-ATPase Activity in Cerebellum of Adolescent Rats: Implications for the Pathogenesis of Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
- Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management
- Orotic acid quantification in dried blood spots and biological fluids by hydrophilic interaction liquid chromatography tandem mass spectrometry
- Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant
- Persistent hyperammonemia in two related Morgan weanlings
- Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15
- Postoperative hyperammonemic encephalopathy due to unexpected constipation in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a case report
- Prenatal exclusion of the HHH syndrome
- Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry
- Retinal risks of high-dose ornithine supplements: a review
- Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
- Role of early management of hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome in pregnancy
- Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
- Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report
- Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
- The dibasic amino acid metabolic disorders
- The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
- The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms
- The mitochondrial transporter family (SLC25): physiological and pathological implications
- Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
- Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!