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722 related items for PubMed ID: 12382367

  • 1. [From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency].
    de Vooght KM, van Wijk R, Nieuwenhuis HK, Ploos van Amstel JK, Rijksen G, van Solinge WW.
    Ned Tijdschr Geneeskd; 2002 Sep 28; 146(39):1828-31. PubMed ID: 12382367
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  • 3. 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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  • 4. Red cell pyruvate kinase deficiency: from genetics to clinical manifestations.
    Zanella A, Bianchi P.
    Baillieres Best Pract Res Clin Haematol; 2000 Mar 30; 13(1):57-81. PubMed ID: 10916678
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  • 5. Pyruvate kinase deficiency: the genotype-phenotype association.
    Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G.
    Blood Rev; 2007 Jul 30; 21(4):217-31. PubMed ID: 17360088
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  • 6. 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 30; 16(2):97-104. PubMed ID: 8650134
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  • 7. [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 30; 35(2):128-33. PubMed ID: 2363093
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  • 8. 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; 30(3):446-53. PubMed ID: 19085939
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  • 9. Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.
    Kedar P, Hamada T, Warang P, Nadkarni A, Shimizu K, Fujji H, Ghosh K, Kanno H, Colah R.
    Clin Genet; 2009 Feb 30; 75(2):157-62. PubMed ID: 18759866
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  • 10. [Hereditary haemolytic anaemia due to pyruvate kinase deficiency. Prognosis of neonatal forms (author's transl)].
    Boivin P, Ottenwaelter T.
    Nouv Presse Med; 1982 Mar 13; 11(12):917-9. PubMed ID: 7063368
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  • 12. Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney.
    Haija MA, Qian YW, Muthukumar A.
    Pediatr Blood Cancer; 2014 Aug 13; 61(8):1463-5. PubMed ID: 24481986
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  • 15. A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.
    Li H, Gu P, Yao RE, Wang J, Fu Q, Wang J.
    Fetal Pediatr Pathol; 2014 Jun 13; 33(3):182-90. PubMed ID: 24601847
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  • 16. Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
    Warang P, Kedar P, Ghosh K, Colah R.
    Blood Cells Mol Dis; 2013 Oct 13; 51(3):133-7. PubMed ID: 23770304
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  • 17. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes.
    Miwa S, Fujii H.
    Am J Hematol; 1996 Feb 13; 51(2):122-32. PubMed ID: 8579052
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  • 18. Mutations in pyruvate kinase.
    Beutler E, Baronciani L.
    Hum Mutat; 1996 Feb 13; 7(1):1-6. PubMed ID: 8664896
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  • 19. [Significance of kinetic abnormalities of erythrocyte pyruvate kinase in congenital deficiencies].
    Boivin P, Galand C.
    Pathol Biol (Paris); 1977 Mar 13; 25(3):161-7. PubMed ID: 323784
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  • 20. Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.
    Jaouani M, Manco L, Kalai M, Chaouch L, Douzi K, Silva A, Macedo S, Darragi I, Boudriga I, Chaouachi D, Fitouri Z, Van Wijk R, Ribeiro ML, Abbes S.
    Int J Lab Hematol; 2017 Apr 13; 39(2):223-231. PubMed ID: 28133914
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