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Journal Abstract Search

123 related items for PubMed ID: 2373115

  • 1. Late-onset form of partial N-acetylglutamate synthetase deficiency.
    Elpeleg ON, Colombo JP, Amir N, Bachmann C, Hurvitz H.
    Eur J Pediatr; 1990 Jun; 149(9):634-6. PubMed ID: 2373115
    [Abstract] [Full Text] [Related]

  • 2. N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.
    Bachmann C, Colombo JP, Jaggi K.
    Adv Exp Med Biol; 1982 Jun; 153():39-45. PubMed ID: 7164912
    [No Abstract] [Full Text] [Related]

  • 3. Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate.
    Plecko B, Erwa W, Wermuth B.
    Eur J Pediatr; 1998 Dec; 157(12):996-8. PubMed ID: 9877039
    [Abstract] [Full Text] [Related]

  • 4. N-acetylglutamate synthetase deficiency: clinical and laboratory observations.
    Pandya AL, Koch R, Hommes FA, Williams JC.
    J Inherit Metab Dis; 1991 Dec; 14(5):685-90. PubMed ID: 1779615
    [Abstract] [Full Text] [Related]

  • 5. N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.
    Schubiger G, Bachmann C, Barben P, Colombo JP, Tönz O, Schüpbach D.
    Eur J Pediatr; 1991 Mar; 150(5):353-6. PubMed ID: 2044610
    [Abstract] [Full Text] [Related]

  • 6. N-acetylglutamate synthetase (NAGS) deficiency.
    Colombo JP.
    Adv Exp Med Biol; 1994 Mar; 368():135-43. PubMed ID: 7741005
    [No Abstract] [Full Text] [Related]

  • 7. A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.
    Guffon N, Vianey-Saban C, Bourgeois J, Rabier D, Colombo JP, Guibaud P.
    J Inherit Metab Dis; 1995 Mar; 18(1):61-5. PubMed ID: 7623444
    [Abstract] [Full Text] [Related]

  • 8. N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.
    Bachmann C, Krähenbühl S, Colombo JP, Schubiger G, Jaggi KH, Tönz O.
    N Engl J Med; 1981 Feb 26; 304(9):543. PubMed ID: 7453791
    [No Abstract] [Full Text] [Related]

  • 9. Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.
    Zimmermann A, Bachmann C, Schubiger G.
    Virchows Arch A Pathol Anat Histopathol; 1985 Feb 26; 408(2-3):259-68. PubMed ID: 3936265
    [Abstract] [Full Text] [Related]

  • 10. Transient hyperammonemias in infants with and without organic acidemia.
    Nyhan WL, Rubio V, Jordá A, Grisolia S, Gutierez F, Canosa C.
    Adv Exp Med Biol; 1982 Feb 26; 153():331-8. PubMed ID: 7164908
    [No Abstract] [Full Text] [Related]

  • 11. N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.
    Morris AA, Richmond SW, Oddie SJ, Pourfarzam M, Worthington V, Leonard JV.
    J Inherit Metab Dis; 1998 Dec 26; 21(8):867-8. PubMed ID: 9870213
    [No Abstract] [Full Text] [Related]

  • 12. A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy?
    Broere D, van Gemert WG, Kneepkens CM, Neele DM, Manoliu RA, Rauwerda JA, van der Knaap MS.
    Eur J Pediatr; 2000 Dec 26; 159(12):905-7. PubMed ID: 11131349
    [Abstract] [Full Text] [Related]

  • 13. Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.
    Burlina AB, Bachmann C, Wermuth B, Bordugo A, Ferrari V, Colombo JP, Zacchello F.
    J Inherit Metab Dis; 1992 Dec 26; 15(3):395-8. PubMed ID: 1405478
    [No Abstract] [Full Text] [Related]

  • 14. N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.
    Hinnie J, Colombo JP, Wermuth B, Dryburgh FJ.
    J Inherit Metab Dis; 1997 Nov 26; 20(6):839-40. PubMed ID: 9427158
    [No Abstract] [Full Text] [Related]

  • 15. Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications.
    Vockley J, Vockley CM, Lin SP, Tuchman M, Wu TC, Lin CY, Seashore MR.
    Biochem Med Metab Biol; 1992 Feb 26; 47(1):38-46. PubMed ID: 1562355
    [Abstract] [Full Text] [Related]

  • 16. N-acetylglutamate synthetase deficiency, a second patient.
    Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo JP.
    J Inherit Metab Dis; 1988 Feb 26; 11(2):191-3. PubMed ID: 3139931
    [Abstract] [Full Text] [Related]

  • 17. Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.
    Heckmann M, Wermuth B, Häberle J, Koch HG, Gortner L, Kreuder JG.
    Acta Paediatr; 2005 Jan 26; 94(1):121-4. PubMed ID: 15858972
    [Abstract] [Full Text] [Related]

  • 18. Urea cycle enzymopathies.
    Walser M.
    Semin Liver Dis; 1982 Nov 26; 2(4):329-39. PubMed ID: 6763345
    [No Abstract] [Full Text] [Related]

  • 19. Mutation analysis in patients with N-acetylglutamate synthase deficiency.
    Häberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG.
    Hum Mutat; 2003 Jun 26; 21(6):593-7. PubMed ID: 12754705
    [Abstract] [Full Text] [Related]

  • 20. A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset.
    Nordenström A, Halldin M, Hallberg B, Alm J.
    J Inherit Metab Dis; 2007 Jun 26; 30(3):400. PubMed ID: 17510757
    [Abstract] [Full Text] [Related]

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