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Items: 15

1.

Diagnosis of Pyruvate Kinase Deficiency.

Gallagher PG, Glader B.

Pediatr Blood Cancer. 2016 May;63(5):771-2. doi: 10.1002/pbc.25922. Epub 2016 Feb 2. No abstract available.

PMID:
26836632
2.

Cholestasis and Hepatic Failure in a Neonate: A Case Report of Severe Pyruvate Kinase Deficiency.

Olivier F, Wieckowska A, Piedboeuf B, Alvarez F.

Pediatrics. 2015 Nov;136(5):e1366-8. doi: 10.1542/peds.2015-0834. Epub 2015 Oct 12.

PMID:
26459649
3.

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. doi: 10.1002/ajh.24178. Epub 2015 Nov 17. No abstract available.

PMID:
26315463
4.

Erythrocyte pyruvate kinase deficiency: 2015 status report.

Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B.

Am J Hematol. 2015 Sep;90(9):825-30. doi: 10.1002/ajh.24088. Epub 2015 Aug 14. Review.

5.

Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center.

Unal S, Gumruk F.

Pediatr Hematol Oncol. 2015;32(5):354-61. doi: 10.3109/08880018.2015.1010671. Epub 2015 May 5.

PMID:
25941984
6.

Western immunoblotting as a new tool for investigating direct antiglobulin test-negative autoimmune hemolytic anemias.

Bloch EM, Sakac D, Branch HA, Cserti-Gazdewich C, Pendergrast J, Pavenski K, Branch DR.

Transfusion. 2015 Jun;55(6 Pt 2):1529-37. doi: 10.1111/trf.13082. Epub 2015 Mar 24.

PMID:
25808506
7.

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. doi: 10.1002/ajh.23899. Epub 2014 Nov 24.

8.

Exploring putative molecular mechanisms of human pyruvate kinase enzyme deficiency and its role in resistance against Plasmodium falciparum malaria.

Qidwai T, Jamal F, Singh S.

Interdiscip Sci. 2014 Jun;6(2):158-66. doi: 10.1007/s12539-013-0025-8. Epub 2014 Jun 17.

PMID:
25172454
9.

Causes of hemolysis in neonates with extreme hyperbilirubinemia.

Christensen RD, Nussenzveig RH, Yaish HM, Henry E, Eggert LD, Agarwal AM.

J Perinatol. 2014 Aug;34(8):616-9. doi: 10.1038/jp.2014.68. Epub 2014 Apr 24.

PMID:
24762414
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. doi: 10.3109/15513815.2014.890260. Epub 2014 Mar 6.

PMID:
24601847
11.

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. doi: 10.1111/bjh.12779. Epub 2014 Feb 18.

PMID:
24533562
12.

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. doi: 10.1002/pbc.24953. Epub 2014 Jan 30.

PMID:
24481986
13.

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. doi: 10.1016/j.bcmd.2013.05.006. Epub 2013 Jun 14.

PMID:
23770304
14.

Large animal models for foamy virus vector gene therapy.

Trobridge GD, Horn PA, Beard BC, Kiem HP.

Viruses. 2012 Dec 7;4(12):3572-88. doi: 10.3390/v4123572. Review.

15.

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.

Machado P, Manco L, Gomes C, Mendes C, Fernandes N, Salomé G, Sitoe L, Chibute S, Langa J, Ribeiro L, Miranda J, Cano J, Pinto J, Amorim A, do Rosário VE, Arez AP.

PLoS One. 2012;7(10):e47071. doi: 10.1371/journal.pone.0047071. Epub 2012 Oct 17.

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