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Journal Abstract Search

315 related items for PubMed ID: 8583741

  • 1. Ornithine transcarbamylase deficiency: case report and review.
    Bueno JD, Lutz R, Cho S.
    Kans Med; 1995; 96(3):135-8. PubMed ID: 8583741
    [No Abstract] [Full Text] [Related]

  • 2. [Prenatal diagnosis of ornithine transcarbamylase deficiency using a DNA marker analysis].
    Schwartz M, Skovby F, Christensen E, Christensen NC.
    Ugeskr Laeger; 1988 Oct 31; 150(44):2641-3. PubMed ID: 3201597
    [No Abstract] [Full Text] [Related]

  • 3. Hyperammonemia: a deficiency of liver ornithine transcarbamylase.
    Nagayama E, Kitayama T, Oguchi H, Ogata K, Tamura E.
    Paediatr Univ Tokyo; 1970 Dec 31; 18():167-73. PubMed ID: 5514641
    [No Abstract] [Full Text] [Related]

  • 4. Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient.
    Heringlake S, Böker K, Manns M.
    Digestion; 1997 Dec 31; 58(1):83-6. PubMed ID: 9018015
    [Abstract] [Full Text] [Related]

  • 5. Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
    Kamoun P, Fensom AH, Shin YS, Bakker E, Colombo JP, Munnich A, Bird S, Canini S, Huijmans JG, Chadefaux-Vekemans B.
    Am J Med Genet; 1995 Jan 16; 55(2):247-50. PubMed ID: 7717428
    [Abstract] [Full Text] [Related]

  • 6. Urea cycle disorders in Thai infants: a report of 5 cases.
    Wasant P, Srisomsap C, Liammongkolkul S, Svasti J.
    J Med Assoc Thai; 2002 Aug 16; 85 Suppl 2():S720-31. PubMed ID: 12403252
    [Abstract] [Full Text] [Related]

  • 7. Ornithine transcarbamylase deficiency: a model for gene therapy.
    Morsy MA, Caskey CT.
    Adv Exp Med Biol; 1994 Aug 16; 368():145-54. PubMed ID: 7741006
    [No Abstract] [Full Text] [Related]

  • 8. [Hyperammonemia in pediatric diseases].
    Cathelineau L.
    Arch Fr Pediatr; 1979 Aug 16; 36(7):724-35. PubMed ID: 394697
    [No Abstract] [Full Text] [Related]

  • 9. [Hyperammonemia due to ornithine transcarbamylase deficiency--a cause of lethal metabolic crisis during the newborn period and infancy (author's transl)].
    Schuchmann L, Colombo JP, Fischer H.
    Klin Padiatr; 1980 May 16; 192(3):281-5. PubMed ID: 7191930
    [Abstract] [Full Text] [Related]

  • 10. Carrier detection of urea cycle disorders.
    Ng WG, Oizumi J, Koch R, Shaw KN, McLaren J, Donnel GN, Carter M.
    Pediatrics; 1981 Sep 16; 68(3):448-52. PubMed ID: 7279481
    [No Abstract] [Full Text] [Related]

  • 11. The diagnosis of ornithine transcarbamylase deficiency.
    Batshaw ML.
    J Pediatr Gastroenterol Nutr; 1985 Feb 16; 4(1):4-6. PubMed ID: 3981367
    [No Abstract] [Full Text] [Related]

  • 12. Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency.
    Wilson BE, Hobbs WN, Newmark JJ, Farrow SJ.
    West J Med; 1994 Aug 16; 161(2):166-8. PubMed ID: 7941540
    [No Abstract] [Full Text] [Related]

  • 13. Fatal initial adult-onset presentation of urea cycle defect.
    Lien J, Nyhan WL, Barshop BA.
    Arch Neurol; 2007 Dec 16; 64(12):1777-9. PubMed ID: 18071043
    [Abstract] [Full Text] [Related]

  • 14. [Ornithine-transcarbamylase deficiency: prognostic difficulties].
    Sanjurjo Crespo P, Sasieta Altuna M, Rubio Zamora V, Prats Viñas JM, Vallo Boado A.
    An Esp Pediatr; 1991 Dec 16; 35(6):407-8. PubMed ID: 1793191
    [Abstract] [Full Text] [Related]

  • 15. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.
    Goldstein AS, Hoogenraad NJ, Johnson JD, Fukanaga K, Swierczewski E, Cann HM, Sunshine P.
    Pediatr Res; 1974 Jan 16; 8(1):5-12. PubMed ID: 4809308
    [No Abstract] [Full Text] [Related]

  • 16. [Congenital deficiency of ornithine transcarbamylase. Description of 2 clinical cases].
    D'Eufemia P, Corrado G, Sabetta G, Castro M, Martino F, Cantani A, Ruberto U.
    Minerva Pediatr; 1983 Mar 15; 35(5):219-24. PubMed ID: 6343831
    [No Abstract] [Full Text] [Related]

  • 17. [Ornithine transcarbamylase deficiency. Biochemical studies in the diagnosis of 4 cases and the identification of carriers].
    Briones Godino P, Vilaseca Busca MA, Alvarez Dominguez L, Rodes Monegal M, Campistol Plana J.
    An Esp Pediatr; 1991 May 15; 34(5):360-4. PubMed ID: 1883110
    [Abstract] [Full Text] [Related]

  • 18. Genetic approach to prenatal diagnosis in urea cycle defects.
    Häberle J, Koch HG.
    Prenat Diagn; 2004 May 15; 24(5):378-83. PubMed ID: 15164414
    [Abstract] [Full Text] [Related]

  • 19. Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.
    Campbell AG, Rosenberg LE, Snodgrass PJ, Nuzum CT.
    Lancet; 1971 Jul 24; 2(7717):217-8. PubMed ID: 4104881
    [No Abstract] [Full Text] [Related]

  • 20. Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.
    MacLeod P, Mackenzie S, Scriver CR.
    Can Med Assoc J; 1972 Sep 09; 107(5):405-8. PubMed ID: 5074751
    [Abstract] [Full Text] [Related]

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