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 *

145 related articles for article (PubMed ID: 6851228)

  • 1. 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]  

  • 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. [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]  

  • 4. 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]  

  • 5. 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]  

  • 6. [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]  

  • 7. 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]  

  • 8. Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.
    Jaeken J; Devlieger H; Bachmann C; Van Aerde J; Corbeel L; Eggermont E
    Eur J Pediatr; 1982 Sep; 139(1):72-5. PubMed ID: 7173263
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Proceedings: Hepatic ultrastructure in a child with carbamyl phosphate synthetase deficiency, hyperornithinaemia, hyperammonaemia, and homocitrullinuria.
    Haust MD; Gatfield PD
    Arch Dis Child; 1975 Aug; 50(8):663. PubMed ID: 173245
    [No Abstract]   [Full Text] [Related]  

  • 12. Prospective treatment of urea cycle disorders.
    Maestri NE; Hauser ER; Bartholomew D; Brusilow SW
    J Pediatr; 1991 Dec; 119(6):923-8. PubMed ID: 1720458
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
    Brusilow SW
    J Clin Invest; 1984 Dec; 74(6):2144-8. PubMed ID: 6511918
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Disorders of the urea cycle.
    Brusilow SW
    Hosp Pract (Off Ed); 1985 Oct; 20(10):65-72. PubMed ID: 3930543
    [No Abstract]   [Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Congenital hyperammonemic syndromes.
    Shih VE
    Clin Perinatol; 1976 Mar; 3(1):3-14. PubMed ID: 954343
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.
    Shih VE; Laframboise R; Mandell R; Pichette J
    Prenat Diagn; 1992 Sep; 12(9):717-23. PubMed ID: 1438066
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.