135 related articles for article (PubMed ID: 3104674)
1. Immunological evidence for a carbamylphosphate synthetase lesion resulting in the formation of enzyme with altered sub-unit size.
Hoogenraad NJ; Weston HJ; Mackenzie N
J Inherit Metab Dis; 1986; 9(4):367-73. PubMed ID: 3104674
[TBL] [Abstract][Full Text] [Related]
2. A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatable mRNA.
Graf L; McIntyre P; Hoogenraad N; Brown G; Haan EA
J Inherit Metab Dis; 1984; 7(3):104-6. PubMed ID: 6438391
[TBL] [Abstract][Full Text] [Related]
3. A case of carbamylphosphate synthetase-I deficiency associated with secondary carnitine deficiency--L-carnitine treatment of CPS-I deficiency.
Mori T; Tsuchiyama A; Nagai K; Nagao M; Oyanagi K; Tsugawa S
Eur J Pediatr; 1990 Jan; 149(4):272-4. PubMed ID: 2303075
[TBL] [Abstract][Full Text] [Related]
4. Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.
McReynolds JW; Crowley B; Mahoney MJ; Rosenberg LE
Am J Hum Genet; 1981 May; 33(3):345-53. PubMed ID: 7246541
[TBL] [Abstract][Full Text] [Related]
5. A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine: 2-oxoglutarate amino-transferase.
van der Heiden C; Beemer FA; van Dijk HA; Desplanque J; Gerards LJ
Clin Genet; 1983 May; 23(5):363-8. PubMed ID: 6851228
[TBL] [Abstract][Full Text] [Related]
6. Carbamyl phosphate synthetase I deficiency with no detectable mRNA activity.
Suzuki Y; Matsushima A; Ohtake A; Mori M; Tatibana M; Orii T
Eur J Pediatr; 1986 Oct; 145(5):406-8. PubMed ID: 3792387
[TBL] [Abstract][Full Text] [Related]
7. Siblings with carbamyl phosphate synthetase I deficiency.
Asanuma K; Takeuchi Y; Kanda M; Kikuchi Y; Yano N; Kakinuma H
Acta Pathol Jpn; 1984 Jul; 34(4):901-10. PubMed ID: 6485804
[TBL] [Abstract][Full Text] [Related]
8. Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS I.
Zimmer KP; Naim HY; Koch HG; Colombo JP; Rossi R; Schmid KW; Deufel T; Ullrich K; Harms E
Lancet; 1995 Dec; 346(8989):1530-1. PubMed ID: 7491050
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [Lethal neonatal deficiency of carbamyl phosphate synthetase (author's transl)].
Plöchl E; Bachmann C; Stöllinger O; Colombo JP; Rassem T; Czihak G
Padiatr Padol; 1982; 17(2):371-82. PubMed ID: 7099689
[TBL] [Abstract][Full Text] [Related]
11. Cognitive functioning in two sisters with carbamyl phosphate synthetase I deficiency.
Sassaman EA; Zartler AS; Mulick JA
J Pediatr Psychol; 1981 Jun; 6(2):171-5. PubMed ID: 7252721
[No Abstract] [Full Text] [Related]
12. Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
Tuchman M; Tsai MY; Holzknecht RA; Brusilow SW
Pediatr Res; 1989 Jul; 26(1):77-82. PubMed ID: 2771513
[TBL] [Abstract][Full Text] [Related]
13. Successful treatment of severe carbamyl phosphate synthetase I deficiency.
Van de Bor M; Mooy P; van Zoeren D; Berger R; van Gelderen HH; Teijema HL
Arch Dis Child; 1984 Dec; 59(12):1183-5. PubMed ID: 6524951
[TBL] [Abstract][Full Text] [Related]
14. Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.
Rapp B; Häberle J; Linnebank M; Wermuth B; Marquardt T; Harms E; Koch HG
Eur J Pediatr; 2001 May; 160(5):283-7. PubMed ID: 11388595
[TBL] [Abstract][Full Text] [Related]
15. Kinetic abnormalities of carbamyl phosphate synthetase-I in a case of congenital hyperammonaemia.
Qureshi IA; Letarte J; Ouellet R; Lemieux B; Cathelineau L
J Inherit Metab Dis; 1986; 9(3):253-60. PubMed ID: 3099069
[TBL] [Abstract][Full Text] [Related]
16. [Hyperammonemias of childhood. I. Enzymopathies of the urea cycle].
Kopieczna-Grzebieniak E; Toborek M; Tarnawski R; Jakubowska D
Pediatr Pol; 1987 Oct; 62(10):727-32. PubMed ID: 3328149
[No Abstract] [Full Text] [Related]
17. Severe neonatal deficiency of carbamylphosphate synthetase.
Lambotte C; Adam A; Van Der Hofstadt J; Dodinval-Versie J; Gielen J
Acta Paediatr Belg; 1977; 30(3):151-5. PubMed ID: 204150
[No Abstract] [Full Text] [Related]
18. Compared expression levels of ornithine transcarbamylase and carbamylphosphate synthetase in liver and small intestine of normal and mutant mice.
Dubois N; Cavard C; Chasse JF; Kamoun P; Briand P
Biochim Biophys Acta; 1988 Sep; 950(3):321-8. PubMed ID: 3167057
[TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy.
Piceni Sereni L; Bachmann C; Pfister U; Buscaglia M; Nicolini U
Prenat Diagn; 1988 May; 8(4):307-9. PubMed ID: 3399484
[TBL] [Abstract][Full Text] [Related]
20. [Prenatal diagnosis of enzymopathies of the urea cycle].
Chadefaux B; Rabier D; Kamoun P
Ann Biol Clin (Paris); 1988; 46(7):471-6. PubMed ID: 3056128
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
