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Journal Abstract Search

127 related items for PubMed ID: 6485804

  • 1. 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
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  • 3. 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
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  • 4. 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 09; 346(8989):1530-1. PubMed ID: 7491050
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  • 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 09; 59(12):1183-5. PubMed ID: 6524951
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  • 6. 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 Dec 09; 9(3):253-60. PubMed ID: 3099069
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  • 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 09; 33(3):345-53. PubMed ID: 7246541
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  • 8. Valproate-induced hyperammonemia.
    Batshaw ML, Brusilow SW.
    Ann Neurol; 1982 Mar 09; 11(3):319-21. PubMed ID: 6807193
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  • 12. Proceedings: Hepatic ultrastructure in a child with carbamyl phosphate synthetase deficiency, hyperornithinaemia, hyperammonaemia, and homocitrullinuria.
    Haust MD, Gatfield PD.
    Arch Dis Child; 1975 Aug 09; 50(8):663. PubMed ID: 173245
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  • 13. 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 Aug 09; 7(3):104-6. PubMed ID: 6438391
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  • 14. 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 09; 139(1):72-5. PubMed ID: 7173263
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  • 15. [Therapy of hyperammonemia in carbamyl phosphate synthase deficiency with peritoneal dialysis and venovenous hemofiltration].
    Lettgen B, Bonzel KE, Colombo JP, Fuchs B, Kordass U, Wendel K, Rascher W.
    Monatsschr Kinderheilkd; 1991 Sep 09; 139(9):612-7. PubMed ID: 1745252
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  • 17. [Hyperammonemia: partial carbamyl phosphate synthetase deficiency].
    Szentpéteri J, Kovács J, Földes G.
    Orv Hetil; 1982 Aug 01; 123(31):1923-6. PubMed ID: 7133689
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  • 18. Clinical features of carbamyl phosphate synthetase-I deficiency in an adult.
    Call G, Seay AR, Sherry R, Qureshi IA.
    Ann Neurol; 1984 Jul 01; 16(1):90-3. PubMed ID: 6465866
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  • 20. 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 01; 53(3):230-4. PubMed ID: 206210
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