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24. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family. Ausems MG; Bakker E; Berger R; Duran M; van Diggelen OP; Keulemans JL; de Valk HW; Kneppers AL; Dorland L; Eskes PF; Beemer FA; Poll-The BT; Smeitink JA Am J Med Genet; 1997 Jan; 68(2):236-9. PubMed ID: 9028466 [TBL] [Abstract][Full Text] [Related]
25. [Changes of urinary excretion of orotic acid in a patient with ornithine carbamyl transferase deficiency]. Sakane Y; Sugimoto T Rinsho Byori; 1982 May; 30(5):547-50. PubMed ID: 7131821 [No Abstract] [Full Text] [Related]
26. [Hereditary anomalies of the urea cycle]. Berger R; Broyer M Presse Med (1893); 1968 May; 76(24):1183-4. PubMed ID: 5673388 [No Abstract] [Full Text] [Related]
27. The field investigation for acatalasemic gene carriers. Wakisaka G; Yamamoto T; Yamamoto Y; Sakamoto K; Sawada M Naika Hokan; 1967 May; 14(5):151-7. PubMed ID: 5624288 [No Abstract] [Full Text] [Related]
28. The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency. Matsuda I; Tanase S Am J Med Genet; 1997 Sep; 71(4):378-83. PubMed ID: 9286441 [TBL] [Abstract][Full Text] [Related]
29. Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase. Matsuda I; Arashima S; Nambu H; Takekoshi Y; Anakura M Pediatrics; 1971 Oct; 48(4):595-600. PubMed ID: 5114747 [No Abstract] [Full Text] [Related]
30. Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. Cavicchi C; Malvagia S; la Marca G; Gasperini S; Donati MA; Zammarchi E; Guerrini R; Morrone A; Pasquini E J Pharm Biomed Anal; 2009 Jul; 49(5):1292-5. PubMed ID: 19359120 [TBL] [Abstract][Full Text] [Related]
31. Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation. Ahrens MJ; Berry SA; Whitley CB; Markowitz DJ; Plante RJ; Tuchman M Am J Med Genet; 1996 Dec; 66(3):311-5. PubMed ID: 8985493 [TBL] [Abstract][Full Text] [Related]
32. [Hyperammonemia due to an inborn error of metabolism. Ornithine-transcarbamylase deficiency]. Chevrel B Presse Med (1893); 1969 Sep; 77(40):1370. PubMed ID: 5821578 [No Abstract] [Full Text] [Related]
33. A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree. Khoo AS; Balraj P; Rachedi A; Chin CN; Volpi L Hum Mutat; 1999 Nov; 14(5):448. PubMed ID: 10533073 [No Abstract] [Full Text] [Related]
35. [ 1 -antitrypsin-genotype determination. Studies in 2 families]. Hofmann S; Grob PJ; Hany A Schweiz Med Wochenschr; 1973 Jan; 103(3):100-7. PubMed ID: 4683516 [No Abstract] [Full Text] [Related]
36. [Clinico-biological therapeutic effect of intramuscular ornithine-carbamyl-transferase in chronic active hepatitis]. Sanchís Closa A; Caballería Rovira E; Arago López JV; Massó Ubeda RM Rev Esp Enferm Apar Dig; 1988 Apr; 73(4):351-4. PubMed ID: 3387645 [No Abstract] [Full Text] [Related]
37. [Sex difference in inborn errors of metabolism and epilepsy]. Kodama H; Kamoshita S No To Shinkei; 1983 Sep; 35(9):877-85. PubMed ID: 6651986 [No Abstract] [Full Text] [Related]