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PUBMED FOR HANDHELDS

Journal Abstract Search


160 related items for PubMed ID: 9590006

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation.
    Grompe M, al-Dhalimy M.
    Hum Mutat; 1995; 5(1):105. PubMed ID: 7728147
    [No Abstract] [Full Text] [Related]

  • 3. [Hereditary tyrosinemia type II].
    Endo F.
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):134-6. PubMed ID: 9590007
    [No Abstract] [Full Text] [Related]

  • 4. Tyrosine and its catabolites: from disease to cancer.
    Tanguay RM, Jorquera R, Poudrier J, St-Louis M.
    Acta Biochim Pol; 1996; 43(1):209-16. PubMed ID: 8790725
    [Abstract] [Full Text] [Related]

  • 5. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
    Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM.
    N Engl J Med; 1994 Aug 11; 331(6):353-7. PubMed ID: 8028615
    [Abstract] [Full Text] [Related]

  • 6. Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean.
    Poudrier J, St-Louis M, Lettre F, Gibson K, Prévost C, Larochelle J, Tanguay RM.
    Prenat Diagn; 1996 Jan 11; 16(1):59-64. PubMed ID: 8821854
    [Abstract] [Full Text] [Related]

  • 7. Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein.
    Kvittingen EA, Rootwelt H, van Dam T, van Faassen H, Berger R.
    Pediatr Res; 1992 Jan 11; 31(1):43-6. PubMed ID: 1594329
    [Abstract] [Full Text] [Related]

  • 8. Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.
    Mustonen A, Ploos van Amstel HK, Berger R, Salo MK, Viinikka L, Simola KO.
    Prenat Diagn; 1997 Oct 11; 17(10):964-6. PubMed ID: 9358577
    [Abstract] [Full Text] [Related]

  • 9. Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.
    Poudrier J, Lettre F, Scriver CR, Larochelle J, Tanguay RM.
    Mol Genet Metab; 1998 Jun 11; 64(2):119-25. PubMed ID: 9705236
    [Abstract] [Full Text] [Related]

  • 10. Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
    Kvittingen EA, Rootwelt H, Brandtzaeg P, Bergan A, Berger R.
    J Clin Invest; 1993 Apr 11; 91(4):1816-21. PubMed ID: 8473520
    [Abstract] [Full Text] [Related]

  • 11. [Tyrosinemia].
    Salo MK.
    Duodecim; 1992 Apr 11; 108(9):841-3. PubMed ID: 1366298
    [No Abstract] [Full Text] [Related]

  • 12.
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  • 14. The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.
    Kvittingen EA, Brodtkorb E.
    Scand J Clin Lab Invest Suppl; 1986 Apr 11; 184():35-40. PubMed ID: 3473612
    [Abstract] [Full Text] [Related]

  • 15. Deficiency of fumarylacetoacetase without hereditary tyrosinemia.
    Kvittingen EA, Børresen AL, Stokke O, van der Hagen CB, Lie SO.
    Clin Genet; 1985 Jun 11; 27(6):550-4. PubMed ID: 4017276
    [Abstract] [Full Text] [Related]

  • 16. Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
    St-Louis M, Tanguay RM.
    Hum Mutat; 1997 Jun 11; 9(4):291-9. PubMed ID: 9101289
    [Abstract] [Full Text] [Related]

  • 17. Self-induced correction of the genetic defect in tyrosinemia type I.
    Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P.
    J Clin Invest; 1994 Oct 11; 94(4):1657-61. PubMed ID: 7929843
    [Abstract] [Full Text] [Related]

  • 18. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
    Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R.
    Hum Mutat; 1998 Oct 11; 12(1):19-26. PubMed ID: 9633815
    [Abstract] [Full Text] [Related]

  • 19. Walking the ethical highwire: genetic screening and hereditary tyrosinemia.
    Romero R, Lavine JE.
    Hepatology; 1995 Apr 11; 21(4):1193-5. PubMed ID: 7705795
    [No Abstract] [Full Text] [Related]

  • 20. The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.
    Rootwelt H, Kvittingen EA, Høie K, Agsteribbe E, Hartog M, van Faassen H, Berger R.
    Hum Genet; 1992 May 11; 89(2):229-33. PubMed ID: 1350265
    [Abstract] [Full Text] [Related]


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