163 related articles for article (PubMed ID: 7579416)
21. Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
Mojzikova R; Koralkova P; Holub D; Zidova Z; Pospisilova D; Cermak J; Striezencova Laluhova Z; Indrak K; Sukova M; Partschova M; Kucerova J; Horvathova M; Divoky V
Br J Haematol; 2014 May; 165(4):556-63. PubMed ID: 24533562
[TBL] [Abstract][Full Text] [Related]
22. The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria.
Laroque A; Min-Oo G; Tam M; Ponka P; Stevenson MM; Gros P
PLoS One; 2017; 12(5):e0177818. PubMed ID: 28542307
[TBL] [Abstract][Full Text] [Related]
23. Hematologically important mutations: red cell pyruvate kinase (Third update).
Bianchi P; Zanella A
Blood Cells Mol Dis; 2000 Feb; 26(1):47-53. PubMed ID: 10772876
[No Abstract] [Full Text] [Related]
24. Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.
Baronciani L; Beutler E
J Clin Invest; 1995 Apr; 95(4):1702-9. PubMed ID: 7706479
[TBL] [Abstract][Full Text] [Related]
25. 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; 98(6):584-589. PubMed ID: 28295642
[TBL] [Abstract][Full Text] [Related]
26. Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression.
Diez A; Gilsanz F; Martinez J; Pérez-Benavente S; Meza NW; Bautista JM
Blood; 2005 Sep; 106(5):1851-6. PubMed ID: 15870173
[TBL] [Abstract][Full Text] [Related]
27. Red cell pyruvate kinase deficiency: molecular and clinical aspects.
Zanella A; Fermo E; Bianchi P; Valentini G
Br J Haematol; 2005 Jul; 130(1):11-25. PubMed ID: 15982340
[TBL] [Abstract][Full Text] [Related]
28. Hexokinase mutations that produce nonspherocytic hemolytic anemia.
Bianchi M; Magnani M
Blood Cells Mol Dis; 1995; 21(1):2-8. PubMed ID: 7655856
[TBL] [Abstract][Full Text] [Related]
29. A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.
Manco L; Ribeiro ML; Máximo V; Almeida H; Costa A; Freitas O; Barbot J; Abade A; Tamagnini G
Br J Haematol; 2000 Sep; 110(4):993-7. PubMed ID: 11054094
[TBL] [Abstract][Full Text] [Related]
30. Pyruvate kinase deficiency.
Miwa S
Nihon Ketsueki Gakkai Zasshi; 1987 Dec; 50(8):1445-52. PubMed ID: 3328943
[No Abstract] [Full Text] [Related]
31. Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.
Baronciani L; Magalhães IQ; Mahoney DH; Westwood B; Adekile AD; Lappin TR; Beutler E
Blood Cells Mol Dis; 1995; 21(1):49-55. PubMed ID: 7655861
[TBL] [Abstract][Full Text] [Related]
32. [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]
33. Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency.
Lakomek M; Huppke P; Neubauer B; Pekrun A; Winkler H; Schröter W
Ann Hematol; 1994 Nov; 69(5):253-60. PubMed ID: 7948315
[TBL] [Abstract][Full Text] [Related]
34. AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.
Cheng J; Morisaki H; Toyama K; Ikawa M; Okabe M; Morisaki T
Genes Cells; 2012 Nov; 17(11):913-22. PubMed ID: 23078545
[TBL] [Abstract][Full Text] [Related]
35. Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.
Kanno H; Ballas SK; Miwa S; Fujii H; Bowman HS
Blood; 1994 Apr; 83(8):2311-6. PubMed ID: 8161798
[TBL] [Abstract][Full Text] [Related]
36. Pyruvate kinase "Göttingen 1,2": congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity.
Schröter W; Lakomek M; Scharnetzky M; Tillmann W; Winkler H
Hum Genet; 1982; 60(4):381-6. PubMed ID: 7106777
[No Abstract] [Full Text] [Related]
37. [Analysis of a pyruvate kinase deficiency consanguineous pedigree caused by Ile314Thr homozygous mutation].
Qu Y; He H; Du J; Hou J; Fu W
Zhonghua Xue Ye Xue Za Zhi; 2014 Jul; 35(7):601-4. PubMed ID: 25052601
[TBL] [Abstract][Full Text] [Related]
38. 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; 39(2):223-231. PubMed ID: 28133914
[TBL] [Abstract][Full Text] [Related]
39. Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: clinical, genetic and molecular studies in six new Spanish patients.
Vives-Corrons JL; Marie J; Pujades MA; Kahn A
Hum Genet; 1980; 53(3):401-8. PubMed ID: 7372343
[TBL] [Abstract][Full Text] [Related]
40. [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]
[Previous] [Next] [New Search]