These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

106 related articles for article (PubMed ID: 7416778)

  • 1. Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.
    Hoogenraad NJ; Mitchell JD; Don NA; Sutherland TM; Mc Leay AC
    Arch Dis Child; 1980 Apr; 55(4):292-5. PubMed ID: 7416778
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Hyperammonemia: partial carbamyl phosphate synthetase deficiency].
    Szentpéteri J; Kovács J; Földes G
    Orv Hetil; 1982 Aug; 123(31):1923-6. PubMed ID: 7133689
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Carbamoylphosphate synthetase deficiency in an adult: deterioration due to administration of valproic acid.
    Horiuchi M; Imamura Y; Nakamura N; Maruyama I; Saheki T
    J Inherit Metab Dis; 1993; 16(1):39-45. PubMed ID: 8487502
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. [Prenatal diagnosis of carbamyl phosphate synthetase deficiency by fetal liver biopsy].
    Murotsuki J; Uehara S; Okamura K; Yajima A; Kikuchi M; Oura T; Miyabayashi S
    Nihon Sanka Fujinka Gakkai Zasshi; 1991 Dec; 43(12):1613-6. PubMed ID: 1744457
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
    Díez-Fernández C; Gallego J; Häberle J; Cervera J; Rubio V
    J Genet Genomics; 2015 May; 42(5):249-60. PubMed ID: 26059772
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.
    Mantagos S; Tsagaraki S; Burgess EA; Oberholzer V; Palmer T; Sacks J; Baibas S; Valaes T
    Arch Dis Child; 1978 Mar; 53(3):230-4. PubMed ID: 206210
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Neonatal death due to carbamyl phosphate synthetase deficiency.
    Wilson RG; Masters PL
    Aust Paediatr J; 1977 Jun; 13(2):119-21. PubMed ID: 199150
    [No Abstract]   [Full Text] [Related]  

  • 13. Metabolic stroke in carbamyl phosphate synthetase deficiency.
    Sperl W; Felber S; Skladal D; Wermuth B
    Neuropediatrics; 1997 Aug; 28(4):229-34. PubMed ID: 9309714
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Plasma carnosinase deficiency in patients with urea cycle defects.
    Burgess EA; Oberholzer VG; Palmer T; Levin B
    Clin Chim Acta; 1975 Jun; 61(2):215-8. PubMed ID: 1132153
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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]  

  • 16. Use of keto acids in inborn errors of urea synthesis.
    Brusilow S; Batshaw M; Walser M
    Curr Concepts Nutr; 1979; 8():65-75. PubMed ID: 527359
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency.
    Murotsuki J; Uehara S; Okamura K; Yajima A; Oura T; Miyabayashi S
    Am J Perinatol; 1994 Mar; 11(2):160-2. PubMed ID: 8198660
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Arginine deficiency syndrome. Its occurrence in carbamyl phosphate synthetase deficiency.
    Kline JJ; Hug G; Schubert WK; Berry H
    Am J Dis Child; 1981 May; 135(5):437-42. PubMed ID: 7234771
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.