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Journal Abstract Search

149 related items for PubMed ID: 3099069

  • 1. 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
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  • 2. 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
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  • 3. 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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  • 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
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  • 11. 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
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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; 50(8):663. PubMed ID: 173245
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  • 13. 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
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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; 139(1):72-5. PubMed ID: 7173263
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  • 15. [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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  • 16. 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 01; 145(5):406-8. PubMed ID: 3792387
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  • 17. [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 01; 43(12):1613-6. PubMed ID: 1744457
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  • 18. [Remarks on a clinical case of partial carbamyl phosphate synthetase deficiency].
    Gomirato G, Giaretto G, Bonomi A, Rossi E, Rovere A, Radeschi G, Crosato M.
    Minerva Pediatr; 1989 Feb 01; 41(2):105-8. PubMed ID: 2739630
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  • 19. Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme A carboxylase deficiency.
    Harris DJ, Yang BI, Wolf B, Snodgrass PJ.
    Pediatrics; 1980 Jan 01; 65(1):107-10. PubMed ID: 7355003
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  • 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 01; 149(4):272-4. PubMed ID: 2303075
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