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Journal Abstract Search

404 related items for PubMed ID: 3296130

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  • 4. 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; 31(1):43-6. PubMed ID: 1594329
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  • 6. 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; 64(2):119-25. PubMed ID: 9705236
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  • 7. 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; 91(4):1816-21. PubMed ID: 8473520
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  • 8.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Sniderman King L, Trahms C, Scott CR.
    ; 1993 Apr. PubMed ID: 20301688
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  • 9. Tyrosine and its catabolites: from disease to cancer.
    Tanguay RM, Jorquera R, Poudrier J, St-Louis M.
    Acta Biochim Pol; 1996 Apr; 43(1):209-16. PubMed ID: 8790725
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  • 11. Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
    Tanguay RM, Valet JP, Lescault A, Duband JL, Laberge C, Lettre F, Plante M.
    Am J Hum Genet; 1990 Aug; 47(2):308-16. PubMed ID: 2378356
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  • 12. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
    Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM.
    J Clin Invest; 1992 Oct; 90(4):1185-92. PubMed ID: 1401056
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  • 14. Enzyme defect in a case of tyrosinemia type I, acute form.
    Furukawa N, Kinugasa A, Seo T, Ishii T, Ota T, Machida Y, Inoue F, Imashuku S, Kusunoki T, Takamatsu T.
    Pediatr Res; 1984 May; 18(5):463-6. PubMed ID: 6145143
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  • 15. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
    Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA.
    Hum Mutat; 1995 May; 6(1):66-73. PubMed ID: 7550234
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  • 16. On the enzymic defects in hereditary tyrosinemia.
    Lindblad B, Lindstedt S, Steen G.
    Proc Natl Acad Sci U S A; 1977 Oct; 74(10):4641-5. PubMed ID: 270706
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  • 19. Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
    Rootwelt H, Chou J, Gahl WA, Berger R, Coşkun T, Brodtkorb E, Kvittingen EA.
    Hum Genet; 1994 Jun; 93(6):615-9. PubMed ID: 8005583
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  • 20. [The metabolic basis of the hyperphenylalaninemias and tyrosinemia].
    Shintaku H.
    Nihon Rinsho; 1992 Jul; 50(7):1542-7. PubMed ID: 1357201
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