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Journal Abstract Search

114 related items for PubMed ID: 2745145

  • 1. [Carbamyl phosphate synthase deficiency: clinical symptoms, diagnosis and dietary-medicamentous treatment in the neonatal period and infancy].
    Hochreutener H, Issakainen J, Bachmann C, Baerlocher K.
    Helv Paediatr Acta; 1989 Jun; 43(5-6):493-505. PubMed ID: 2745145
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  • 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
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  • 6. Carbamyl phosphate synthetase deficiency and postpartum hyperammonemia.
    Kotani Y, Shiota M, Umemoto M, Tsuritani M, Hoshiai H.
    Am J Obstet Gynecol; 2010 Jul; 203(1):e10-1. PubMed ID: 20471629
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  • 7. Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.
    Tuchman M, Mauer SM, Holzknecht RA, Summar ML, Vnencak-Jones CL.
    J Inherit Metab Dis; 1992 Jul; 15(2):269-77. PubMed ID: 1356172
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  • 8. The addition of aminoacids and phosphate to hemodiafiltration solutions in newborns with hyperammonemic coma.
    Fründ S, Kuwertz-Bröking E, Koch HG, Bulla M, Harms E.
    Clin Nephrol; 1996 Jul; 46(1):64-6. PubMed ID: 8832155
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  • 9. [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; 41(2):105-8. PubMed ID: 2739630
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  • 10. Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in a liver lacking carbamyl phosphate synthetase protein.
    Zhang W, Holzknecht RA, Butkowski RJ, Tuchman M.
    Clin Invest Med; 1990 Aug; 13(4):183-8. PubMed ID: 2208834
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  • 11. 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
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  • 12. Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.
    Brusilow SW, Danney M, Waber LJ, Batshaw M, Burton B, Levitsky L, Roth K, McKeethren C, Ward J.
    N Engl J Med; 1984 Jun 21; 310(25):1630-4. PubMed ID: 6427608
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  • 13. 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 21; 149(4):272-4. PubMed ID: 2303075
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  • 14. Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis.
    Batshaw ML.
    Prog Clin Biol Res; 1983 Jan 21; 127():69-83. PubMed ID: 6889404
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  • 15. Long-term management of a case of carbamyl phosphate synthetase deficiency using ketanalogues and hydroxyanalogues of essential amino acids.
    Batshaw ML, Brusilow S, Walser M.
    Pediatrics; 1976 Aug 21; 58(2):227-35. PubMed ID: 181726
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  • 16. [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 21; 43(12):1613-6. PubMed ID: 1744457
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  • 19. 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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  • 20. Identification of benzoylcarnitine in the urine of a patient of hyperammonemia.
    Sakuma T, Asai K, Ichiki T, Sugiyama N, Kidouchi K, Wada Y.
    Tohoku J Exp Med; 1989 Oct 09; 159(2):147-51. PubMed ID: 2609332
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