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152 related items for PubMed ID: 1356172

  • 1. 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; 15(2):269-77. PubMed ID: 1356172
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  • 3. [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; 139(9):612-7. PubMed ID: 1745252
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  • 4. 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
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  • 5. [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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  • 10. Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers.
    Summar ML.
    J Inherit Metab Dis; 1998 Jun; 21 Suppl 1():30-9. PubMed ID: 9686343
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  • 11. Prospective management of a child with neonatal citrullinemia.
    Melnyk AR, Matalon R, Henry BW, Zeller WP, Lange C.
    J Pediatr; 1993 Jan; 122(1):96-8. PubMed ID: 8419623
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  • 14. 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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  • 15. 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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  • 16. 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
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  • 17. Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism.
    Falk MC, Knight JF, Roy LP, Wilcken B, Schell DN, O'Connell AJ, Gillis J.
    Pediatr Nephrol; 1994 Jun; 8(3):330-3. PubMed ID: 7917860
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  • 20. 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 Jun; 9(3):253-60. PubMed ID: 3099069
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