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Journal Abstract Search

155 related items for PubMed ID: 7249373

  • 1. Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia.
    Berger R, Smit GP, Stoker-de Vries SA, Duran M, Ketting D, Wadman SK.
    Clin Chim Acta; 1981 Jul 18; 114(1):37-44. PubMed ID: 7249373
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  • 4. Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine.
    Wadman SK, Duran M, Ketting D, Bruinvis L, van Sprang FJ, Berger R, Smit GP, Steinmann B, Leonard JV, Divry P, Farriaux JP, Cartigny B.
    Clin Chim Acta; 1983 May 30; 130(2):231-8. PubMed ID: 6872257
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  • 5. 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 May 30; 184():35-40. PubMed ID: 3473612
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  • 6. On the enzymic defects in hereditary tyrosinemia.
    Lindblad B, Lindstedt S, Steen G.
    Proc Natl Acad Sci U S A; 1977 Oct 30; 74(10):4641-5. PubMed ID: 270706
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  • 7. Hereditary tyrosinemia type I--an overview.
    Kvittingen EA.
    Scand J Clin Lab Invest Suppl; 1986 Oct 30; 184():27-34. PubMed ID: 3296130
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  • 12. 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 30; 91(4):1816-21. PubMed ID: 8473520
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  • 13. Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.
    Poudrier J, Lettre F, St-Louis M, Tanguay RM.
    Prenat Diagn; 1999 Jan 30; 19(1):61-3. PubMed ID: 10073910
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  • 18. 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 30; 89(2):229-33. PubMed ID: 1350265
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  • 19. Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts.
    Manabe S, Sassa S, Kappas A.
    J Exp Med; 1985 Sep 01; 162(3):1060-74. PubMed ID: 3928801
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  • 20. Concentrations of succinylacetone after homogentisate and tyrosine loading in healthy individuals with low fumarylacetoacetase activity.
    Kvittingen EA, Leonard JV, Pettit BR, King GS.
    Clin Chim Acta; 1985 Nov 15; 152(3):271-9. PubMed ID: 4064334
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