351 related articles for article (PubMed ID: 28295642)
1. 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]
2. Red blood cell PK deficiency: An update of PK-LR gene mutation database.
Canu G; De Bonis M; Minucci A; Capoluongo E
Blood Cells Mol Dis; 2016 Mar; 57():100-9. PubMed ID: 26832193
[TBL] [Abstract][Full Text] [Related]
3. Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.
Andres O; Loewecke F; Morbach H; Kraus S; Einsele H; Eber S; Speer CP
Br J Haematol; 2019 Nov; 187(3):386-395. PubMed ID: 31273765
[TBL] [Abstract][Full Text] [Related]
4. Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis.
van Zwieten R; van Oirschot BA; Veldthuis M; Dobbe JG; Streekstra GJ; van Solinge WW; Schutgens RE; van Wijk R
Am J Hematol; 2015 Mar; 90(3):E35-9. PubMed ID: 25388786
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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; 61(8):1463-5. PubMed ID: 24481986
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.
Al-Samkari H; Addonizio K; Glader B; Morton DH; Chonat S; Thompson AA; Kuo KHM; Ravindranath Y; Wang H; Rothman JA; Kwiatkowski JL; Kung C; Kosinski PA; Al-Sayegh H; London WB; Grace RF
Br J Haematol; 2021 Mar; 192(6):1092-1096. PubMed ID: 32463523
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. [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]
14. [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]
15. 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]
16. A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency.
Aydin Köker S; Oymak Y; Bianchi P; Gözmen S; Karapinar TH; Fermo E; Vergin RC
J Pediatr Hematol Oncol; 2019 Jan; 41(1):e1-e2. PubMed ID: 30028822
[TBL] [Abstract][Full Text] [Related]
17. Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.
Lesmana H; Dyer L; Li X; Denton J; Griffiths J; Chonat S; Seu KG; Heeney MM; Zhang K; Hopkin RJ; Kalfa TA
Hum Mutat; 2018 Mar; 39(3):389-393. PubMed ID: 29288557
[TBL] [Abstract][Full Text] [Related]
18. A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.
Rehman AU; Rashid A; Hussain Z; Shah K
J Med Case Rep; 2022 Feb; 16(1):66. PubMed ID: 35168679
[TBL] [Abstract][Full Text] [Related]
19. A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.
Sivashangar A; Gooneratne L; Clark B; Rees D; Jayasinghe S; Laas C
J Med Case Rep; 2021 Jul; 15(1):374. PubMed ID: 34311792
[TBL] [Abstract][Full Text] [Related]
20. Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Garate Z; Quintana-Bustamante O; Crane AM; Olivier E; Poirot L; Galetto R; Kosinski P; Hill C; Kung C; Agirre X; Orman I; Cerrato L; Alberquilla O; Rodriguez-Fornes F; Fusaki N; Garcia-Sanchez F; Maia TM; Ribeiro ML; Sevilla J; Prosper F; Jin S; Mountford J; Guenechea G; Gouble A; Bueren JA; Davis BR; Segovia JC
Stem Cell Reports; 2015 Dec; 5(6):1053-1066. PubMed ID: 26549847
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]