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Items: 1 to 20 of 66

1.

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study.

van Beers EJ, van Straaten S, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA, Sharma M, Neufeld EJ, Sheth S, Despotovic JM, Kollmar N, Pospíšilová D, Knoll CM, Kuo K, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Verhovsek M, Kunz J, McNaull MA, Rose MJ, Bradeen HA, Addonizio K, Li A, Al-Sayegh H, London WB, Grace RF.

Haematologica. 2019 Feb;104(2):e51-e53. doi: 10.3324/haematol.2018.196295. Epub 2018 Sep 13. No abstract available.

3.

Iron overload in congenital erythrocyte pyruvate kinase deficiency.

Salem HH, Van Der Weyden MB, Firkin BG.

Med J Aust. 1980 May 31;1(11):531-2.

PMID:
7393032
4.
5.

Unexpectedly high but still asymptomatic iron overload in a patient with pyruvate kinase deficiency.

Andersen FD, d'Amore F, Nielsen FC, van Solinge W, Jensen F, Jensen PD.

Hematol J. 2004;5(6):543-5.

PMID:
15570302
6.

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
7.

Pyruvate kinase deficiency in pregnancy complicated by iron overload.

Dolan LM, Ryan M, Moohan J.

BJOG. 2002 Jul;109(7):844-6. No abstract available.

8.

Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.

Percy MJ, van Wijk R, Haggan S, Savage GA, Boyd K, Dempsey S, Hamilton J, Kettle P, Kyle A, Shepherd CW, van Solinge WW, Lappin TR, McMullin MF.

Blood Cells Mol Dis. 2007 Sep-Oct;39(2):189-94. Epub 2007 Jun 15.

PMID:
17574881
9.

Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.

Rider NL, Strauss KA, Brown K, Finkenstedt A, Puffenberger EG, Hendrickson CL, Robinson DL, Muenke N, Tselepis C, Saunders L, Zoller H, Morton DH.

Am J Hematol. 2011 Oct;86(10):827-34. doi: 10.1002/ajh.22118. Epub 2011 Aug 3.

10.

Regulation of iron metabolism through GDF15 and hepcidin in pyruvate kinase deficiency.

Finkenstedt A, Bianchi P, Theurl I, Vogel W, Witcher DR, Wroblewski VJ, Murphy AT, Zanella A, Zoller H.

Br J Haematol. 2009 Mar;144(5):789-93. doi: 10.1111/j.1365-2141.2008.07535.x. Epub 2008 Dec 20.

PMID:
19120353
11.

The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria.

Laroque A, Min-Oo G, Tam M, Ponka P, Stevenson MM, Gros P.

PLoS One. 2017 May 18;12(5):e0177818. doi: 10.1371/journal.pone.0177818. eCollection 2017.

12.

Prevalence of erythrocyte pyruvate kinase deficiency and normal values of enzyme in a Turkish population.

Akin H, Baykal-Erkiliç A, Aksu A, Yücel G, Gümüşlü S.

Hum Hered. 1997 Jan-Feb;47(1):42-6.

PMID:
9017979
13.

Deferasirox in pyruvate kinase deficiency.

Deeren D.

Ann Hematol. 2009 Apr;88(4):397. doi: 10.1007/s00277-008-0610-9. Epub 2008 Sep 23. No abstract available.

PMID:
18810437
14.

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. doi: 10.1111/ijlh.12906. Epub 2018 Sep 5.

PMID:
30184319
15.

Pyruvate kinase deficiency in an alpha-thalassemia family: first case report in Thailand.

Tanphaichitr VS, Suvatte V, Mahasandana C, Veerakul G, Pung-amritt P, Tachavanich K, Ideguchi H.

Southeast Asian J Trop Med Public Health. 1997;28 Suppl 3:64-8.

PMID:
9640602
16.

A rare combination of two inherited disorders in one patient: pyruvate kinase deficiency and hemochromatosis.

Arnold H, Blume KG.

Ann Hematol. 2009 Aug;88(8):815-6. doi: 10.1007/s00277-008-0681-7. Epub 2009 Jan 10. No abstract available.

PMID:
19137298
17.

Red Blood Cell Enzyme Disorders.

Grace RF, Glader B.

Pediatr Clin North Am. 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005. Review.

PMID:
29803284
18.

Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases.

Zanella A, Bianchi P, Iurlo A, Boschetti C, Taioli E, Vercellati C, Zappa M, Fermo E, Tavazzi D, Sampietro M.

Blood Cells Mol Dis. 2001 May-Jun;27(3):653-61.

PMID:
11482880
19.

[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 28;146(39):1828-31. Dutch.

PMID:
12382367
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. doi: 10.3109/08880018.2015.1010671. Epub 2015 May 5.

PMID:
25941984

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