351 related articles for article (PubMed ID: 28295642)
21. [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; 35(2):128-33. PubMed ID: 2363093
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. [Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].
Li D; Zhang J; Jiao B; Liu Y; Wang Y; Wang Z; Li W; Hou L; Sun Y; Guo H; Guo X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):53-6. PubMed ID: 26829734
[TBL] [Abstract][Full Text] [Related]
24. Improving the laboratory diagnosis of pyruvate kinase deficiency.
Laas C; Lambert C; Senior McKenzie T; Sheldon E; Davidson P; Rees D; Clark B
Br J Haematol; 2021 Jun; 193(5):994-1000. PubMed ID: 33937978
[TBL] [Abstract][Full Text] [Related]
25. [A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing].
Li DL; Zhang J; Liu YL; Jiao BQ; Wang ZW; Wang YJ; Li WJ; Hou LF; Guo HM; Sun Y; Guo X
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2015 Oct; 23(5):1464-8. PubMed ID: 26524058
[TBL] [Abstract][Full Text] [Related]
26. A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat.
Aksu T; Yarali N; Fermo E; Marcello A; Hacisalihoğlu Ş; Bianchi P; Özbek NY
J Pediatr Hematol Oncol; 2018 Oct; 40(7):e458-e460. PubMed ID: 29309376
[TBL] [Abstract][Full Text] [Related]
27. Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency.
Kanno H; Utsugisawa T; Aizawa S; Koizumi T; Aisaki K; Hamada T; Ogura H; Fujii H
Haematologica; 2007 Jun; 92(6):731-7. PubMed ID: 17550844
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.
Maciak K; Jurkiewicz A; Strojny W; Adamowicz-Salach A; Romiszewska M; Jackowska T; Kwiecinska K; Poznanski J; Gora M; Burzynska B
Blood Cells Mol Dis; 2024 Jul; 107():102841. PubMed ID: 38581917
[TBL] [Abstract][Full Text] [Related]
30. Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn.
Canu G; De Paolis E; Righino B; Mazzuccato G; De Paolis G; Capoluongo E; De Rosa MC; Urbani A; Gunes AM; Minucci A
Mol Biol Rep; 2020 Oct; 47(10):8311-8315. PubMed ID: 32974842
[TBL] [Abstract][Full Text] [Related]
31. Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.
Kager L; Minkov M; Zeitlhofer P; Fahrner B; Ratzinger F; Boztug K; Dossenbach-Glaninger A; Haas OA
Pediatr Blood Cancer; 2016 May; 63(5):914-6. PubMed ID: 26728349
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.
Montllor L; Mañú-Pereira MD; Llaudet-Planas E; Gómez Ramírez P; Sevilla Navarro J; Vives-Corrons JL
Med Clin (Barc); 2017 Jan; 148(1):23-27. PubMed ID: 27871768
[TBL] [Abstract][Full Text] [Related]
35. 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; 6(2):470-5. PubMed ID: 17952871
[TBL] [Abstract][Full Text] [Related]
36. Consensus document for the diagnosis and treatment of pyruvate kinase deficiency.
Morado M; Villegas AM; de la Iglesia S; Martínez-Nieto J; Del Orbe Barreto R; Beneitez D; Salido E;
Med Clin (Barc); 2021 Sep; 157(5):253.e1-253.e8. PubMed ID: 33431182
[TBL] [Abstract][Full Text] [Related]
37. A novel PKLR gene mutation identified using advanced molecular techniques.
He Y; Luo J; Lei Y; Jia S; Liao N
Pediatr Transplant; 2018 Mar; 22(2):. PubMed ID: 29349879
[TBL] [Abstract][Full Text] [Related]
38. Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats.
Grahn RA; Grahn JC; Penedo MC; Helps CR; Lyons LA
BMC Vet Res; 2012 Oct; 8():207. PubMed ID: 23110753
[TBL] [Abstract][Full Text] [Related]
39. Compound heterozygosity in
Bagla S; Bhambhani K; Gadgeel M; Buck S; Jin JP; Ravindranath Y
Haematologica; 2019 Sep; 104(9):e428-e431. PubMed ID: 30948487
[No Abstract] [Full Text] [Related]
40. Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia.
Kugler W; Willaschek C; Holtz C; Ohlenbusch A; Laspe P; Krügener R; Muirhead H; Schröter W; Lakomek M
Hum Mutat; 2000; 15(3):261-72. PubMed ID: 10679942
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
