286 related articles for article (PubMed ID: 33054047)
1. Molecular heterogeneity of pyruvate kinase deficiency.
Bianchi P; Fermo E
Haematologica; 2020 Sep; 105(9):2218-2228. PubMed ID: 33054047
[TBL] [Abstract][Full Text] [Related]
2. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Grace RF; Bianchi P; van Beers EJ; Eber SW; Glader B; Yaish HM; Despotovic JM; Rothman JA; Sharma M; McNaull MM; Fermo E; Lezon-Geyda K; Morton DH; Neufeld EJ; Chonat S; Kollmar N; Knoll CM; Kuo K; Kwiatkowski JL; Pospíšilová D; Pastore YD; Thompson AA; Newburger PE; Ravindranath Y; Wang WC; Wlodarski MW; Wang H; Holzhauer S; Breakey VR; Kunz J; Sheth S; Rose MJ; Bradeen HA; Neu N; Guo D; Al-Sayegh H; London WB; Gallagher PG; Zanella A; Barcellini W
Blood; 2018 May; 131(20):2183-2192. PubMed ID: 29549173
[TBL] [Abstract][Full Text] [Related]
3. Management of pyruvate kinase deficiency in children and adults.
Grace RF; Barcellini W
Blood; 2020 Sep; 136(11):1241-1249. PubMed ID: 32702739
[TBL] [Abstract][Full Text] [Related]
4. Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.
Johnson S; Grace RF; Despotovic JM
Pediatr Blood Cancer; 2022 Aug; 69(8):e29696. PubMed ID: 35452178
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P; Fermo E; Lezon-Geyda K; van Beers EJ; Morton HD; Barcellini W; Glader B; Chonat S; Ravindranath Y; Newburger PE; Kollmar N; Despotovic JM; Verhovsek M; Sharma M; Kwiatkowski JL; Kuo KHM; Wlodarski MW; Yaish HM; Holzhauer S; Wang H; Kunz J; Addonizio K; Al-Sayegh H; London WB; Andres O; van Wijk R; Gallagher PG; Grace RFF
Am J Hematol; 2020 May; 95(5):472-482. PubMed ID: 32043619
[TBL] [Abstract][Full Text] [Related]
8. Congenital Hemolytic Anemia.
Haley K
Med Clin North Am; 2017 Mar; 101(2):361-374. PubMed ID: 28189176
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.
Yozgat AK; Erdem AY; Kaçar D; Özbek NY; Yaralı N
Turk J Pediatr; 2022; 64(5):951-955. PubMed ID: 36305449
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. [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]
14. Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
Shefer Averbuch N; Steinberg-Shemer O; Dgany O; Krasnov T; Noy-Lotan S; Yacobovich J; Kuperman AA; Kattamis A; Ben Barak A; Roth-Jelinek B; Chubar E; Shabad E; Dufort G; Ellis M; Wolach O; Pazgal I; Abu Quider A; Miskin H; Tamary H
Eur J Haematol; 2018 Sep; 101(3):297-304. PubMed ID: 29786897
[TBL] [Abstract][Full Text] [Related]
15. [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]
16. Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
Warang P; Kedar P; Ghosh K; Colah R
Blood Cells Mol Dis; 2013 Oct; 51(3):133-7. PubMed ID: 23770304
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Updates and advances in pyruvate kinase deficiency.
Luke N; Hillier K; Al-Samkari H; Grace RF
Trends Mol Med; 2023 May; 29(5):406-418. PubMed ID: 36935283
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
