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Journal Abstract Search

180 related items for PubMed ID: 21215915

  • 21.
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  • 22. In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.
    Oliver C, Timson DJ.
    Eur J Med Genet; 2017 Jun; 60(6):289-298. PubMed ID: 28341520
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  • 23. Triosephosphate isomerase I170V alters catalytic site, enhances stability and induces pathology in a Drosophila model of TPI deficiency.
    Roland BP, Amrich CG, Kammerer CJ, Stuchul KA, Larsen SB, Rode S, Aslam AA, Heroux A, Wetzel R, VanDemark AP, Palladino MJ.
    Biochim Biophys Acta; 2015 Jan; 1852(1):61-9. PubMed ID: 25463631
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  • 25. Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain.
    Repiso A, Boren J, Ortega F, Pujades A, Centelles J, Vives-Corrons JL, Climent F, Cascante M, Carreras J.
    Haematologica; 2002 Apr; 87(4):ECR12. PubMed ID: 11940494
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  • 26. Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface.
    Rodríguez-Almazán C, Arreola R, Rodríguez-Larrea D, Aguirre-López B, de Gómez-Puyou MT, Pérez-Montfort R, Costas M, Gómez-Puyou A, Torres-Larios A.
    J Biol Chem; 2008 Aug 22; 283(34):23254-63. PubMed ID: 18562316
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  • 27. Triosephosphate isomerase deficiency: historical perspectives and molecular aspects.
    Schneider AS.
    Baillieres Best Pract Res Clin Haematol; 2000 Mar 22; 13(1):119-40. PubMed ID: 10916682
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  • 35. Triosephosphate isomerase deficiency: new insights into an enigmatic disease.
    Orosz F, Oláh J, Ovádi J.
    Biochim Biophys Acta; 2009 Dec 22; 1792(12):1168-74. PubMed ID: 19786097
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  • 37. Chronic axonal neuropathy with triosephosphate isomerase deficiency.
    Wilmshurst JM, Wise GA, Pollard JD, Ouvrier RA.
    Pediatr Neurol; 2004 Feb 22; 30(2):146-8. PubMed ID: 14984912
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  • 38. Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia.
    Repiso A, Oliva B, Vives-Corrons JL, Beutler E, Carreras J, Climent F.
    Hum Mutat; 2006 Nov 22; 27(11):1159. PubMed ID: 17041899
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  • 39. Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
    Mojzikova R, Koralkova P, Holub D, Saxova Z, Pospisilova D, Prochazkova D, Dzubak P, Horvathova M, Divoky V.
    Blood Cells Mol Dis; 2018 Mar 22; 69():23-29. PubMed ID: 28803808
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  • 40. 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 Mar 22; 15(6):553-6. PubMed ID: 9842650
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