These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 1779615)

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

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [No 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.
    Bachmann C; Colombo JP; Jaggi K
    Adv Exp Med Biol; 1982; 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 151(2):872-7. PubMed ID: 3348818
    [TBL] [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; 47(1):38-46. PubMed ID: 1562355
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 153():331-8. PubMed ID: 7164908
    [No Abstract]   [Full Text] [Related]  

  • 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; 94(1):121-4. PubMed ID: 15858972
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 304(9):543. PubMed ID: 7453791
    [No Abstract]   [Full Text] [Related]  

  • 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; 159(12):905-7. PubMed ID: 11131349
    [TBL] [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; 408(2-3):259-68. PubMed ID: 3936265
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Arginosuccinate synthetase deficiency: good outcome despite severe neonatal hyperammonaemia.
    Walter JH; Allen JT; Holton JB
    J Inherit Metab Dis; 1992; 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; 15(2):269-77. PubMed ID: 1356172
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 43(5-6):493-505. PubMed ID: 2745145
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 7.