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24. Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria). Shimizu H; Maekawa K; Eto Y Brain Dev; 1990; 12(5):533-5. PubMed ID: 2288388 [TBL] [Abstract][Full Text] [Related]
25. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Camacho JA; Obie C; Biery B; Goodman BK; Hu CA; Almashanu S; Steel G; Casey R; Lambert M; Mitchell GA; Valle D Nat Genet; 1999 Jun; 22(2):151-8. PubMed ID: 10369256 [TBL] [Abstract][Full Text] [Related]
27. A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria. Rodes M; Ribes A; Pineda M; Alvarez L; Fabregas I; Fernandez Alvarez E; Coude FX; Grimber G J Inherit Metab Dis; 1987; 10(1):73-81. PubMed ID: 3106719 [TBL] [Abstract][Full Text] [Related]
28. Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria. Inoue I; Saheki T; Kayanuma K; Uono M; Nakajima M; Takeshita K; Koike R; Yuasa T; Miyatake T; Sakoda K Biochim Biophys Acta; 1988 Jan; 964(1):90-5. PubMed ID: 3334877 [TBL] [Abstract][Full Text] [Related]
29. Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15. Debray FG; Lambert M; Lemieux B; Soucy JF; Drouin R; Fenyves D; Dubé J; Maranda B; Laframboise R; Mitchell GA J Med Genet; 2008 Nov; 45(11):759-64. PubMed ID: 18978333 [TBL] [Abstract][Full Text] [Related]
34. The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Camacho JA; Rioseco-Camacho N Pediatr Res; 2009 Jul; 66(1):35-41. PubMed ID: 19287344 [TBL] [Abstract][Full Text] [Related]
35. Ornithine methyl ester. An unusual metabolite encountered in the urine of patients with a urea cycle disorder characterized by hyperammonemia, hyperornithinemia and homocitrullinuria. Gordon BA; Gatfield PD; Taller E Clin Biochem; 1977 Apr; 10(2):78-82. PubMed ID: 862180 [TBL] [Abstract][Full Text] [Related]
36. Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts. Botschner J; Smith DW; Simell O; Scriver CR J Inherit Metab Dis; 1989; 12(1):33-40. PubMed ID: 2501580 [TBL] [Abstract][Full Text] [Related]
37. Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia. Mühling J; Dehne MG; Fuchs M; Sablotzki A; Weiss S; Spatz J; Hempelmann G Amino Acids; 2001; 21(3):303-18. PubMed ID: 11764411 [TBL] [Abstract][Full Text] [Related]
38. Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Camacho JA; Mardach R; Rioseco-Camacho N; Ruiz-Pesini E; Derbeneva O; Andrade D; Zaldivar F; Qu Y; Cederbaum SD Pediatr Res; 2006 Oct; 60(4):423-9. PubMed ID: 16940241 [TBL] [Abstract][Full Text] [Related]
39. 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. Camacho JA; Rioseco-Camacho N; Andrade D; Porter J; Kong J Mol Genet Metab; 2003 Aug; 79(4):257-71. PubMed ID: 12948741 [TBL] [Abstract][Full Text] [Related]
40. Ultrastructural changes in the mitochondria in disorders in ornithine metabolism. Haust MD; Gordon BA Pediatr Res; 1980 Dec; 14(12):1411. PubMed ID: 7208160 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]