140 related articles for article (PubMed ID: 27354418)
1. Siblings with severe pyruvate kinase deficiency and a complex genotype.
Christensen RD; Yaish HM; Nussenzveig RH; Agarwal AM
Am J Med Genet A; 2016 Sep; 170(9):2449-52. PubMed ID: 27354418
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis.
Vives Corrons JL; Krishnevskaya E; Montllor L; Leguizamon V; Garcia Bernal M
Cells; 2022 Mar; 11(7):. PubMed ID: 35406697
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. 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]
6. Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Dongerdiye R; Bokde M; More TA; Saptarshi A; Devendra R; Chiddarwar A; Warang P; Kedar P
Ann Hematol; 2023 May; 102(5):1029-1036. PubMed ID: 36892591
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
Indo Y; Mardy S; Miura Y; Moosa A; Ismail EA; Toscano E; Andria G; Pavone V; Brown DL; Brooks A; Endo F; Matsuda I
Hum Mutat; 2001 Oct; 18(4):308-18. PubMed ID: 11668614
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Mutations in pyruvate kinase.
Beutler E; Baronciani L
Hum Mutat; 1996; 7(1):1-6. PubMed ID: 8664896
[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 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]
15. 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]
16. 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]
17. First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family.
So CC; Tang M; Li CH; Ha SY; Pissard S; Chan LC
Hematology; 2011 Nov; 16(6):377-9. PubMed ID: 22183074
[TBL] [Abstract][Full Text] [Related]
18. Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.
Costa C; Albuisson J; Le TH; Max-Audit I; Dinh KT; Tosi M; Goossens M; Pissard S
Haematologica; 2005 Jan; 90(1):25-30. PubMed ID: 15642665
[TBL] [Abstract][Full Text] [Related]
19. A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia.
Vercellati C; Marcello AP; Fermo E; Barcellini W; Zanella A; Bianchi P
Clin Lab; 2013; 59(3-4):421-4. PubMed ID: 23724634
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
