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Journal Abstract Search

502 related items for PubMed ID: 15982340

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  • 7. PK Mondor: prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia.
    Rouger H, Girodon E, Goossens M, Galactéros F, Cohen-Solal M.
    Prenat Diagn; 1996 Feb; 16(2):97-104. PubMed ID: 8650134
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  • 9. Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
    van Wijk R, Huizinga EG, van Wesel AC, van Oirschot BA, Hadders MA, van Solinge WW.
    Hum Mutat; 2009 Mar; 30(3):446-53. PubMed ID: 19085939
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  • 10. First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.
    Kedar PS, Nampoothiri S, Sreedhar S, Ghosh K, Shimizu K, Kanno H, Colah RB.
    Genet Mol Res; 2007 Jun 30; 6(2):470-5. PubMed ID: 17952871
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  • 15. Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease.
    Manco L, Vagace JM, Relvas L, Rebelo U, Bento C, Villegas A, Letícia Ribeiro M.
    Eur J Haematol; 2010 Jan 01; 84(1):89-90. PubMed ID: 19758413
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  • 17. Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
    Warang P, Kedar P, Ghosh K, Colah R.
    Blood Cells Mol Dis; 2013 Oct 01; 51(3):133-7. PubMed ID: 23770304
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  • 18. Residual pyruvate kinase activity in PKLR-deficient erythroid precursors of a patient suffering from severe haemolytic anaemia.
    Klei TRL, Kheradmand Kia S, Veldthuis M, Beuger BM, Geissler J, Dehbozorgian J, Karimi M, van Bruggen R, van Zwieten R.
    Eur J Haematol; 2017 Jun 01; 98(6):584-589. PubMed ID: 28295642
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  • 20. [Chronic non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency in a Costa Rican family carrying hemoglobin C disease].
    Chaves M, Vives-Corrons JL, Sáenz GF, Pujades MA, Briceño J, Colomer D.
    Sangre (Barc); 1990 Apr 01; 35(2):128-33. PubMed ID: 2363093
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