290 related articles for article (PubMed ID: 19758413)
1. 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]
2. [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]
3. 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]
4. 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]
5. 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]
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. 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]
8. 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]
9. 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]
10. Coexistence of congenital red cell pyruvate kinase and band 3 deficiency.
Branca R; Costa E; Rocha S; Coelho H; Quintanilha A; Cabeda JM; Santos-Silva A; Barbot J
Clin Lab Haematol; 2004 Aug; 26(4):297-300. PubMed ID: 15279669
[TBL] [Abstract][Full Text] [Related]
11. Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
Mañú-Pereira Mdel M; Gonzalez-Roca E; van Solinge WW; Llaudet-Planas E; Sevilla J; Montllor L; Mensa-Vilaro A; Ploos van Amstel HK; van Wijk R; Vives-Corrons J
Am J Hematol; 2015 Dec; 90(12):E217-9. PubMed ID: 26315463
[No Abstract] [Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. [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]
17. [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]
18. 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]
19. [Hereditary haemolytic anaemia due to pyruvate kinase deficiency. Prognosis of neonatal forms (author's transl)].
Boivin P; Ottenwaelter T
Nouv Presse Med; 1982 Mar; 11(12):917-9. PubMed ID: 7063368
[TBL] [Abstract][Full Text] [Related]
20. Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center.
Unal S; Gumruk F
Pediatr Hematol Oncol; 2015; 32(5):354-61. PubMed ID: 25941984
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
