337 related articles for article (PubMed ID: 729890)
1. Study of enzyme defect in a case of ornithine transcarbamylase deficiency.
Qureshi IA; Letarte J; Quellet R
Diabete Metab; 1978 Dec; 4(4):239-41. PubMed ID: 729890
[TBL] [Abstract][Full Text] [Related]
2. Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.
Vella S; Steiner F; Schlumbom V; Zurbrügg R; Wiesmann UN; Schaffner T; Wermuth B
J Inherit Metab Dis; 1997 Aug; 20(4):517-24. PubMed ID: 9266387
[TBL] [Abstract][Full Text] [Related]
3. [Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].
Beaudry MA; Letarte J; Collu R; Leboeuf G; Ducharme JR; Melancon SB; Dallairf L
Diabete Metab; 1975 Mar; 1():29-37. PubMed ID: 1234064
[TBL] [Abstract][Full Text] [Related]
4. Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in a liver lacking carbamyl phosphate synthetase protein.
Zhang W; Holzknecht RA; Butkowski RJ; Tuchman M
Clin Invest Med; 1990 Aug; 13(4):183-8. PubMed ID: 2208834
[TBL] [Abstract][Full Text] [Related]
5. Transient hyperammonemia during aging in ornithine transcarbamylase-deficient, sparse-fur mice.
Gushiken T; Yoshimura N; Saheki T
Biochem Int; 1985 Nov; 11(5):637-43. PubMed ID: 4091843
[TBL] [Abstract][Full Text] [Related]
6. [Variability of enzyme activity and urinary orotic acid in ornithine transcarbamylase deficient spf/+ heterozygotic mice].
Qureshi IA; Letarte J; Lebel S; Ouellet R
Diabete Metab; 1986 Oct; 12(5):250-5. PubMed ID: 3803679
[TBL] [Abstract][Full Text] [Related]
7. Studies of the cause and treatment of hyperammonemia in females with ornithine transcarbamylase deficiency.
Glasgow AM; Kraegel JH; Schulman JD
Pediatrics; 1978 Jul; 62(1):30-7. PubMed ID: 683780
[TBL] [Abstract][Full Text] [Related]
8. Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.
Sunshine P; Lindenbaum JE; Levy HL; Freeman JM
Pediatrics; 1972 Jul; 50(1):100-11. PubMed ID: 5038084
[No Abstract] [Full Text] [Related]
9. Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome.
Brown T; Hug G; Lansky L; Bove K; Scheve A; Ryan M; Brown H; Schubert WK; Partin JC; Lloyd-Still J
N Engl J Med; 1976 Apr; 294(16):861-7. PubMed ID: 175276
[TBL] [Abstract][Full Text] [Related]
10. Heterogeneity of patients with late onset ornithine transcarbamylase deficiency.
Tuchman M; Holzknecht RA
Clin Invest Med; 1991 Aug; 14(4):320-4. PubMed ID: 1782729
[TBL] [Abstract][Full Text] [Related]
11. [A new family with mutation of the structural gene of human ornithine carbamoyltransferase].
Stoll C; Bieth R; Dreyfus J; Flori E; Lutz P; Levy JM
Arch Fr Pediatr; 1978 May; 35(5):512-8. PubMed ID: 678030
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome.
Snodgrass PJ; DeLong GR
N Engl J Med; 1976 Apr; 294(16):855-60. PubMed ID: 1250313
[TBL] [Abstract][Full Text] [Related]
14. Congenital hyperammonemia: symptomatic carrier girl patient and her asymptomatic heterozygous mother for ornithine transcarbamylase (OTC) deficiency: specific enzyme diagnostic and kinetic investigations for the detection of heterozygous genostatus.
László A; Karsai T; Várkonyi A
Acta Paediatr Hung; 1991; 31(3):291-7. PubMed ID: 1742044
[TBL] [Abstract][Full Text] [Related]
15. [Neonatal hyperammonemia due to ornithine transcarbamylase deficiency (author's transl)].
del Valle JA; Urbón A; García MJ; Cuadrado P; Ugarte M
An Esp Pediatr; 1982 May; 16(5):416-20. PubMed ID: 7114619
[TBL] [Abstract][Full Text] [Related]
16. Ornithine transcarbamylase deficiency: enzyme studies on a further case and a method of diagnosis using plasma enzyme ratios.
Gray RG; Black JA; Lyons VH; Pollitt RJ
Pediatr Res; 1976 Nov; 10(11):918-23. PubMed ID: 980551
[TBL] [Abstract][Full Text] [Related]
17. Ornithine transcarbamylase deficiency in male adolescence and adulthood.
Yoshino M; Nishiyori J; Yamashita F; Kumashiro R; Abe H; Tanikawa K; Ohno T; Nakao K; Kaku N; Fukushima H
Enzyme; 1990; 43(3):160-8. PubMed ID: 2095337
[TBL] [Abstract][Full Text] [Related]
18. Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites.
Qureshi IA; Letarte J; Ouellet R
Adv Exp Med Biol; 1982; 153():173-83. PubMed ID: 7164896
[No Abstract] [Full Text] [Related]
19. A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.
Schimanski U; Krieger D; Horn M; Stremmel W; Wermuth B; Theilmann L
Hepatology; 1996 Dec; 24(6):1413-5. PubMed ID: 8938172
[TBL] [Abstract][Full Text] [Related]
20. [A case of ornithine transcarbamylase deficiency presenting severe symptoms in adulthood].
Shiro Y; Yabuki S
Rinsho Shinkeigaku; 1992 Jul; 32(7):752-4. PubMed ID: 1291170
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]