BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 17977029)

  • 1. Prevalence of pyruvate kinase deficiency among the south Iranian population: quantitative assay and molecular analysis.
    Yavarian M; Karimi M; Shahriary M; Afrasiabi AR
    Blood Cells Mol Dis; 2008; 40(3):308-11. PubMed ID: 17977029
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.
    Lenzner C; Nürnberg P; Jacobasch G; Gerth C; Thiele BJ
    Blood; 1997 Mar; 89(5):1793-9. PubMed ID: 9057665
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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; 146(39):1828-31. PubMed ID: 12382367
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Erythrocyte pyruvate kinase deficiency. The influence of physiologically important metabolites on the function of normal and defective enzymes.
    Lakomek M; Winkler H; Pekrun A; Krüger N; Sander M; Huppke P; Schröter W
    Enzyme Protein; 1994-1995; 48(3):149-63. PubMed ID: 8589802
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 75(2):157-62. PubMed ID: 18759866
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An inherited molecular lesion of erythrocyte pyruvate kinase. Identification of a kinetically aberrant isozyme associated with premature hemolysis.
    Paglia DE; Valentine WN; Baughan MA; Miller DR; Reed CF; McIntyre OR
    J Clin Invest; 1968 Aug; 47(8):1929-46. PubMed ID: 5666119
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Erythrocyte pyruvate kinase deficiency: hemolytic anemia in single and double heterozygotes].
    Barreto OC; Viana MB; Nonoyama K; Maspes VE
    Sangre (Barc); 1982; 27(6):1073-8. PubMed ID: 7184190
    [No Abstract]   [Full Text] [Related]  

  • 8. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes.
    Miwa S; Fujii H
    Am J Hematol; 1996 Feb; 51(2):122-32. PubMed ID: 8579052
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ten cases of pyruvate kinase (PK) deficiency found in Japan: enzymatic characterization of the patients' PK.
    Morisaki T; Tani K; Takahashi K; Tsutsumi H; Horiuchi N; Ogura H; Kanno H; Fujimura K; Nakayama S; Watanabe C
    Nihon Ketsueki Gakkai Zasshi; 1988 Sep; 51(6):1080-5. PubMed ID: 3201900
    [No Abstract]   [Full Text] [Related]  

  • 10. Red cell enzymopathies as a model of inborn errors of metabolism.
    Miwa S; Kanno H; Hirono A; Fujii H
    Southeast Asian J Trop Med Public Health; 1995; 26 Suppl 1():112-9. PubMed ID: 8629088
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.
    Percy MJ; van Wijk R; Haggan S; Savage GA; Boyd K; Dempsey S; Hamilton J; Kettle P; Kyle A; Shepherd CW; van Solinge WW; Lappin TR; McMullin MF
    Blood Cells Mol Dis; 2007; 39(2):189-94. PubMed ID: 17574881
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
    Fermo E; Bianchi P; Chiarelli LR; Cotton F; Vercellati C; Writzl K; Baker K; Hann I; Rodwell R; Valentini G; Zanella A
    Br J Haematol; 2005 Jun; 129(6):839-46. PubMed ID: 15953013
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
    Pissard S; Max-Audit I; Skopinski L; Vasson A; Vivien P; Bimet C; Goossens M; Galacteros F; Wajcman H
    Br J Haematol; 2006 Jun; 133(6):683-9. PubMed ID: 16704447
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Molecular study of red cell pyruvate kinase deficiency in 15 patients with chronic hemolytic anemia. Group of Erythropathology of Hematology and hemotherapy Association of Spain (HHAS)].
    Zarza R; Pujades A; García J; Alvarez R; Carrera A; Estella J; Morey M; Remacha A; Pérez-Lungmus G; Nomdedeu B; Sánchez J; Gastearena J; Bureo E; Vives Corrons JL
    Med Clin (Barc); 1999 May; 112(16):606-9. PubMed ID: 10374175
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.
    Costa C; Albuisson J; Le TH; Max-Audit I; Dinh KT; Tosi M; Goossens M; Pissard S
    Haematologica; 2005 Jan; 90(1):25-30. PubMed ID: 15642665
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Erythrocyte pyruvate kinase deficiency: hemolytic anemia in a heterozygote].
    Ortega JJ; Vives Corrons JL; Alonso JL
    Sangre (Barc); 1983; 28(3):360-2. PubMed ID: 6623298
    [No Abstract]   [Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hematologically important mutations: red cell pyruvate kinase.
    Baronciani L; Bianchi P; Zanella A
    Blood Cells Mol Dis; 1996; 22(1):85-9. PubMed ID: 8807089
    [No Abstract]   [Full Text] [Related]  

  • 19. [Pyruvate kinase (PK) isozyme switching and genetic heterogeneity of PK deficiency].
    Kanno H
    Nihon Rinsho; 1995 May; 53(5):1213-20. PubMed ID: 7602781
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.
    Rider NL; Strauss KA; Brown K; Finkenstedt A; Puffenberger EG; Hendrickson CL; Robinson DL; Muenke N; Tselepis C; Saunders L; Zoller H; Morton DH
    Am J Hematol; 2011 Oct; 86(10):827-34. PubMed ID: 21815188
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.