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Journal Abstract Search

141 related items for PubMed ID: 1779615

  • 1.
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  • 2. 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; 15(3):395-8. PubMed ID: 1405478
    [No Abstract] [Full Text] [Related]

  • 3. 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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  • 4. 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; 21(8):867-8. PubMed ID: 9870213
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  • 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
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  • 8. N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.
    Bachmann C, Colombo JP, Jaggi K.
    Adv Exp Med Biol; 1982 Mar; 153():39-45. PubMed ID: 7164912
    [No Abstract] [Full Text] [Related]

  • 9. 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
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  • 10. Mitochondrial urea cycle enzymes in rats treated with sodium benzoate.
    Colombo JP, Bachmann C, Pfister U, Gradwohl M.
    Biochem Biophys Res Commun; 1988 Mar 15; 151(2):872-7. PubMed ID: 3348818
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 47(1):38-46. PubMed ID: 1562355
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  • 13. 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 15; 94(1):121-4. PubMed ID: 15858972
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  • 15. 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 15; 159(12):905-7. PubMed ID: 11131349
    [Abstract] [Full Text] [Related]

  • 16. 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 Dec 15; 408(2-3):259-68. PubMed ID: 3936265
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  • 17. Arginosuccinate synthetase deficiency: good outcome despite severe neonatal hyperammonaemia.
    Walter JH, Allen JT, Holton JB.
    J Inherit Metab Dis; 1992 Dec 15; 15(2):282-3. PubMed ID: 1527997
    [No Abstract] [Full Text] [Related]

  • 18. 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 Dec 15; 15(2):269-77. PubMed ID: 1356172
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  • 19. [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 15; 43(5-6):493-505. PubMed ID: 2745145
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  • 20. N-acetylglutamate synthetase deficiency, a second patient.
    Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo JP.
    J Inherit Metab Dis; 1988 Jun 15; 11(2):191-3. PubMed ID: 3139931
    [Abstract] [Full Text] [Related]

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