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Journal Abstract Search

212 related items for PubMed ID: 8244340

  • 1. Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms.
    Hollán S, Fujii H, Hirono A, Hirono K, Karro H, Miwa S, Harsányi V, Gyódi E, Inselt-Kovács M.
    Hum Genet; 1993 Nov; 92(5):486-90. PubMed ID: 8244340
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  • 2. Enhanced association of mutant triosephosphate isomerase to red cell membranes and to brain microtubules.
    Orosz F, Wágner G, Liliom K, Kovács J, Baróti K, Horányi M, Farkas T, Hollán S, Ovádi J.
    Proc Natl Acad Sci U S A; 2000 Feb 01; 97(3):1026-31. PubMed ID: 10655478
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  • 3. Search for the pathogenesis of the differing phenotype in two compound heterozygote Hungarian brothers with the same genotypic triosephosphate isomerase deficiency.
    Hollán S, Magócsi M, Fodor E, Horányi M, Harsányi V, Farkas T.
    Proc Natl Acad Sci U S A; 1997 Sep 16; 94(19):10362-6. PubMed ID: 9294216
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  • 7. Possibility of prenatal diagnosis of hereditary triose phosphate isomerase deficiency.
    Rosa R, Prehu MO, Calvin MC, Daffos F, Forestier F.
    Prenat Diagn; 1986 Sep 16; 6(3):231-4. PubMed ID: 3725742
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  • 11. Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes.
    Valentin C, Cohen-Solal M, Maquat L, Horányi M, Inselt-Kovács M, Hollán S.
    C R Acad Sci III; 2000 Mar 16; 323(3):245-50. PubMed ID: 10782327
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  • 13. [Triosephosphate isomerase deficiency. Familial survey and prenatal detection].
    Poinsot J, Alix D, Rosa R, Checoury A, Badoual J, Parent P, Castel Y.
    Arch Fr Pediatr; 1987 May 16; 44(5):365-8. PubMed ID: 3619568
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  • 14. Evidence of a triosephosphate isomerase non-catalytic function crucial to behavior and longevity.
    Roland BP, Stuchul KA, Larsen SB, Amrich CG, Vandemark AP, Celotto AM, Palladino MJ.
    J Cell Sci; 2013 Jul 15; 126(Pt 14):3151-8. PubMed ID: 23641070
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  • 15. The feasibility of replacement therapy for inherited disorder of glycolysis: triosephosphate isomerase deficiency (review).
    Ationu A, Humphries A.
    Int J Mol Med; 1998 Dec 15; 2(6):701-4. PubMed ID: 9850739
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  • 19. Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency.
    Orosz F, Oláh J, Alvarez M, Keseru GM, Szabó B, Wágner G, Kovári Z, Horányi M, Baróti K, Martial JA, Hollán S, Ovádi J.
    Blood; 2001 Nov 15; 98(10):3106-12. PubMed ID: 11698297
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  • 20. Triosephosphate isomerase deficiency: a neurodegenerative misfolding disease.
    Oláh J, Orosz F, Keserü GM, Kovári Z, Kovács J, Hollán S, Ovádi J.
    Biochem Soc Trans; 2002 Apr 15; 30(2):30-8. PubMed ID: 12023819
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