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Journal Abstract Search

165 related items for PubMed ID: 669702

  • 1. Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain.
    Vives-Corrons JL, Rubinson-Skala H, Mateo M, Estella J, Feliu E, Dreyfus JC.
    Hum Genet; 1978 Jun 09; 42(2):171-80. PubMed ID: 669702
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  • 3. [A case of congenital non-spherocytic hemolytic anemia caused by triose phosphate isomerase deficiency. Prenatal diagnosis].
    Poinsot J, Parent P, Alix D, Toudic L, Castel Y.
    J Genet Hum; 1986 Nov 09; 34(5):431-7. PubMed ID: 3794669
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  • 4. Hereditary triose phosphate isomerase deficiency: seven new homozygous cases.
    Rosa R, Prehu MO, Calvin MC, Badoual J, Alix D, Girod R.
    Hum Genet; 1985 Nov 09; 71(3):235-40. PubMed ID: 4065896
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  • 6. Possibility of prenatal diagnosis of hereditary triose phosphate isomerase deficiency.
    Rosa R, Prehu MO, Calvin MC, Daffos F, Forestier F.
    Prenat Diagn; 1986 Nov 09; 6(3):231-4. PubMed ID: 3725742
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  • 8. Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency.
    Bardosi A, Eber SW, Hendrys M, Pekrun A.
    Acta Neuropathol; 1990 Nov 09; 79(4):387-94. PubMed ID: 2339591
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  • 9. Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.
    Aissa K, Kamoun F, Sfaihi L, Ghedira ES, Aloulou H, Kamoun T, Pissard S, Hachicha M.
    Fetal Pediatr Pathol; 2014 Aug 09; 33(4):234-8. PubMed ID: 24840153
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  • 11. [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 09; 44(5):365-8. PubMed ID: 3619568
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  • 13. 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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  • 14. Hereditary deficiency of triosephosphate isomerase in four unrelated families.
    Eber SW, Dünnwald M, Belohradsky BH, Bidlingmaier F, Schievelbein H, Weinmann HM, Krietsch KG.
    Eur J Clin Invest; 1979 Jun 01; 9(3):195-202. PubMed ID: 113220
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  • 16. 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 01; 92(5):486-90. PubMed ID: 8244340
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  • 17. Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia.
    Linarello RE, Shetty AK, Thomas T, Warrier RP.
    Pediatr Hematol Oncol; 1998 Nov 01; 15(6):553-6. PubMed ID: 9842650
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  • 20. Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.
    Roland BP, Richards KR, Hrizo SL, Eicher S, Barile ZJ, Chang TC, Savon G, Bianchi P, Fermo E, Ricerca BM, Tortorolo L, Vockley J, VanDemark AP, Palladino MJ.
    Biochim Biophys Acta Mol Basis Dis; 2019 Sep 01; 1865(9):2257-2266. PubMed ID: 31075491
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