• "Basolateral" and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance
• A GC/MS-based metabolomic approach for diagnosing citrin deficiency
• A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria
• Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria)
• Adult-onset citrullinemia
• Adult-onset citrullinemia
• Ammonia metabolism and hyperammonemic disorders
• Basolateral-membrane transport defect for lysine in lysinuric protein intolerance
• Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria
• Biogenesis of Candida albicans Can1 permease expressed in Saccharomyces cerevisiae
• Blood-brain barrier permeability of Gualou Guizhi granules and neuroprotective effects in ischemia/reperfusion injury
• Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome
• Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy
• Citrulline in health and disease. Review on human studies
• Citrulline protects Streptococcus pyogenes from acid stress using the arginine deiminase pathway and the F1Fo-ATPase
• 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
• Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts
• Differential expression of two related amino acid transporters with differing substrate specificity in Arabidopsis thaliana
• 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
• Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
• Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan
• Experimental evidence that ornithine and homocitrulline disrupt energy metabolism in brain of young rats
• Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature
• H+-ATPase activity on unilateral ureteral obstruction: interaction of endogenous nitric oxide and angiotensin II
• HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation
• Homocitrullinuria and homoargininuria in lysinuric protein intolerance
• Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
• Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure
• Hyperornithinemia, hyperammonemia and homocitrullinuria due to a defect of mitochondrial membrane transport
• Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity
• Imeglimin-mediated glycemic control in maternally inherited deafness and diabetes
• Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance
• Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders
• Inducible <em>Slc7a7</em> Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease
• Inhibition of adenine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A beta-oxidation intermediates
• Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline
• Isolation of a gene encoding a chaperonin-like protein by complementation of yeast amino acid transport mutants with human cDNA
• L-arginine depletion in preeclampsia orients nitric oxide synthase toward oxidant species
• Long-term oral lysine supplementation in lysinuric protein intolerance
• Lysinuric Protein Intolerance
• Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder
• Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14
• Lysinuric protein intolerance: a severe hyperammonemia secondary to l-arginine deficiency (author's transl)]
• Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine
• Lysinuric protein intolerance: reviewing concepts on a multisystem disease
• Lysinuric protein intolerance. Basolateral transport defect in renal tubuli
• Maternal supplementation with citrulline increases renal nitric oxide in young spontaneously hypertensive rats and has long-term antihypertensive effects
• Metabolic Serendipities of Expanded Newborn Screening
• Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)
• Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship
• Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)
• mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency
• N-acetylglucosamine-inducible CaGAP1 encodes a general amino acid permease which co-ordinates external nitrogen source response and morphogenesis in Candida albicans
• Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK
• Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
• Nutrient intake in lysinuric protein intolerance
• Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance
• Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance
• Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport
• Orotic acid excretion and arginine metabolism
• Peptides induce persistent signaling from endosomes by a nutrient transceptor
• Reduced intestinal and renal amino acid transport in PDK1 hypomorphic mice
• Regulation of enzymes involved in ornithine/arginine metabolism in the parasitic trypanosomatid Herpetomonas samuelpessoai
• Renal arginine metabolism
• Side effects of long-term glutamine supplementation
• SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations
• Specific analogues uncouple transport, signalling, oligo-ubiquitination and endocytosis in the yeast Gap1 amino acid transceptor
• Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinaemia with hyperammonaemia and homocitrullinuria
• Sustaining hypercitrullinemia, hypercholesterolemia and augmented oxidative stress in Japanese children with aspartate/glutamate carrier isoform 2-citrin-deficiency even during the silent period
• The absorption of protons with specific amino acids and carbohydrates by yeast
• The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence
• The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
• The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
• The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements
• The mitochondrial biliverdin exporter ABCB10 in hepatocytes mitigates neutrophilic inflammation in alcoholic hepatitis
• The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms
• The role of deimination in ATP5b mRNA transport in a transgenic mouse model of multiple sclerosis
• Therapies for mitochondrial diseases and current clinical trials
• Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
• Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
• Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate
• TTCT 1471 mutation in lysnuric protein intolerance: Clinical features of a Tunisian paediatric series