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5. 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]
6. 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]
7. 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]
9. 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]
10. 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]
11. Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. Laemmle A; Hahn D; Hu L; Rüfenacht V; Gautschi M; Leibundgut K; Nuoffer JM; Häberle J Mol Genet Metab; 2015 Mar; 114(3):438-44. PubMed ID: 25639153 [TBL] [Abstract][Full Text] [Related]
12. 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]
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. Abnormalities of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of patients with Reye's syndrome. Sinatra F; Yoshida T; Applebaum M; Masion Hoogenraad NJ; Sunshine P Pediatr Res; 1975 Nov; 9(11):829-33. PubMed ID: 171618 [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. Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma. Batshaw ML; Walser M; Brusilow SW Pediatr Res; 1980 Dec; 14(12):1316-9. PubMed ID: 7208146 [TBL] [Abstract][Full Text] [Related]