157 related articles for article (PubMed ID: 9827908)
21. 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
[TBL] [Abstract][Full Text] [Related]
22. [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]
23. 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]
24. Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency.
Kanno H; Fujii H; Wei DC; Chan LC; Hirono A; Tsukimoto I; Miwa S
Blood; 1997 Jun; 89(11):4213-8. PubMed ID: 9166866
[TBL] [Abstract][Full Text] [Related]
25. 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]
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. 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; 84(1):89-90. PubMed ID: 19758413
[No Abstract] [Full Text] [Related]
28. A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.
Yaish HM; Nussenzveig RH; Agarwal AM; Siddiqui AH; Christensen RD
Neonatology; 2014; 106(2):140-2. PubMed ID: 24969675
[TBL] [Abstract][Full Text] [Related]
29. [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]
30. Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong.
Kanno H; Wei DC; Chan LC; Mizoguchi H; Ando M; Nakahata T; Narisawa K; Fujii H; Miwa S
Blood; 1994 Nov; 84(10):3505-9. PubMed ID: 7949104
[TBL] [Abstract][Full Text] [Related]
31. PK-LR gene mutations in pyruvate kinase deficient Portuguese patients.
Manco L; Ribeiro ML; Almeida H; Freitas O; Abade A; Tamagnini G
Br J Haematol; 1999 Jun; 105(3):591-5. PubMed ID: 10354117
[TBL] [Abstract][Full Text] [Related]
32. 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]
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. [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]
35. Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia.
Kugler W; Laspe P; Stahl M; Schröter W; Lakomek M
Br J Haematol; 1999 Jun; 105(3):596-8. PubMed ID: 10354118
[TBL] [Abstract][Full Text] [Related]
36. Hemolytic anemia associated with a novel heterozygote mutation 1183A in the PK-LR gene (PK- Jordan).
Karadsheh NS; Gelbart T; Naffa RG
Int J Lab Hematol; 2014 Aug; 36(4):e66-8. PubMed ID: 24330591
[No Abstract] [Full Text] [Related]
37. 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]
38. Molecular modelling of human red blood cell pyruvate kinase: structural implications of a novel G1091 to a mutation causing severe nonspherocytic hemolytic anemia.
van Solinge WW; Kraaijenhagen RJ; Rijksen G; van Wijk R; Stoffer BB; Gajhede M; Nielsen FC
Blood; 1997 Dec; 90(12):4987-95. PubMed ID: 9389718
[TBL] [Abstract][Full Text] [Related]
39. Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.
Pastore L; Della Morte R; Frisso G; Alfinito F; Vitale D; Calise RM; Ferraro F; Zagari A; Rotoli B; Salvatore F
Hum Mutat; 1998; 11(2):127-34. PubMed ID: 9482576
[TBL] [Abstract][Full Text] [Related]
40. 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; 33(3):182-90. PubMed ID: 24601847
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
