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7. The variable manifestations of disease in pyruvate kinase deficiency and their management. Al-Samkari H; Van Beers EJ; Kuo KHM; Barcellini W; Bianchi P; Glenthøj A; Del Mar Mañú Pereira M; Van Wijk R; Glader B; Grace RF Haematologica; 2020 Sep; 105(9):2229-2239. PubMed ID: 33054048 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Cord blood transplantation in a young child with pyruvate kinase deficiency. Akiyoshi K; Sekiguchi K; Okamoto T; Suenobu S; Izumi T Pediatr Int; 2016 Jul; 58(7):634-6. PubMed ID: 27460399 [TBL] [Abstract][Full Text] [Related]
13. Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters. Bobée V; Daliphard S; Schrapp A; Lahary A Int J Lab Hematol; 2018 Dec; 40(6):697-703. PubMed ID: 30184319 [TBL] [Abstract][Full Text] [Related]
14. Rapid diagnosis of hereditary haemolytic anaemias using automated rheoscopy and supervised machine learning. Moura PL; Dobbe JGG; Streekstra GJ; Rab MAE; Veldthuis M; Fermo E; van Wijk R; van Zwieten R; Bianchi P; Toye AM; Satchwell TJ Br J Haematol; 2020 Aug; 190(4):e250-e255. PubMed ID: 32627174 [No Abstract] [Full Text] [Related]
15. Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency. Chueh HW; Kim N Pediatr Hematol Oncol; 2022 Mar; 39(2):166-173. PubMed ID: 34281465 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD. Schwartz JD; Barcellini W; Grace RF; Bianchi P; Zanella A; López Lorenzo JL; Sevilla J; Shah AJ; Glader B; Nicoletti E; Navarro Ordoñez S; Segovia JC Am J Hematol; 2022 Mar; 97(3):E120-E125. PubMed ID: 34989415 [No Abstract] [Full Text] [Related]
18. 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]
19. 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]
20. How we manage patients with pyruvate kinase deficiency. Grace RF; Mark Layton D; Barcellini W Br J Haematol; 2019 Mar; 184(5):721-734. PubMed ID: 30681718 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]