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Items: 1 to 20 of 389

1.

Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency.

Salek MS, Ionova T, Johns JR, Oliva EN.

Qual Life Res. 2019 Feb;28(2):399-410. doi: 10.1007/s11136-018-2025-y. Epub 2018 Nov 19.

2.

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
3.

A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency.

Aydin Köker S, Oymak Y, Bianchi P, Gözmen S, Karapinar TH, Fermo E, Vergin RC.

J Pediatr Hematol Oncol. 2019 Jan;41(1):e1-e2. doi: 10.1097/MPH.0000000000001254.

PMID:
30028822
4.

[The clinical and laboratory characteristics of congenital pyruvate kinase deficiency].

Song L, Li Y, Peng GX, Zhang L, Jing LP, Zhou K, Li Y, Ye L, Li JP, Fan HH, Zhao X, Yang WR, Yang Y, Zhao YP, Xiong YZ, Wu ZJ, Zhang FK.

Zhonghua Nei Ke Za Zhi. 2018 Jul 1;57(7):511-513. doi: 10.3760/cma.j.issn.0578-1426.2018.07.008. Chinese.

PMID:
29996270
5.

The burden of disease in pyruvate kinase deficiency: Patients' perception of the impact on health-related quality of life.

Grace RF, Cohen J, Egan S, Wells T, Witherspoon B, Ryan A, Salek SS, Bodie S, Klaassen RJ.

Eur J Haematol. 2018 Dec;101(6):758-765. doi: 10.1111/ejh.13128. Epub 2018 Sep 28.

PMID:
29935049
6.

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
7.

Successful Liver Transplants for Liver Failure Associated With Pyruvate Kinase Deficiency.

Chartier ME, Hart L, Paganelli M, Ahmed N, Bilodeau M, Alvarez F.

Pediatrics. 2018 Apr;141(Suppl 5):S385-S389. doi: 10.1542/peds.2016-3896.

8.

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 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16.

9.

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). doi: 10.1111/petr.13143. Epub 2018 Jan 18.

PMID:
29349879
10.

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. doi: 10.1097/MPH.0000000000001073.

PMID:
29309376
11.

Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.

Lesmana H, Dyer L, Li X, Denton J, Griffiths J, Chonat S, Seu KG, Heeney MM, Zhang K, Hopkin RJ, Kalfa TA.

Hum Mutat. 2018 Mar;39(3):389-393. doi: 10.1002/humu.23392. Epub 2018 Jan 11.

12.

Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency.

van Straaten S, Bierings M, Bianchi P, Akiyoshi K, Kanno H, Serra IB, Chen J, Huang X, van Beers E, Ekwattanakit S, Güngör T, Kors WA, Smiers F, Raymakers R, Yanez L, Sevilla J, van Solinge W, Segovia JC, van Wijk R.

Haematologica. 2018 Feb;103(2):e82-e86. doi: 10.3324/haematol.2017.177857. Epub 2017 Dec 14. No abstract available.

13.

Persistent Hemolysis after Laparoscopic Partial Splenectomy in Children.

Muncie C, Berch B, Blewett C, Sawaya D.

Am Surg. 2017 Sep 1;83(9):e349-e350. No abstract available.

PMID:
30454347
14.

AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.

Kung C, Hixon J, Kosinski PA, Cianchetta G, Histen G, Chen Y, Hill C, Gross S, Si Y, Johnson K, DeLaBarre B, Luo Z, Gu Z, Yao G, Tang H, Fang C, Xu Y, Lv X, Biller S, Su SM, Yang H, Popovici-Muller J, Salituro F, Silverman L, Dang L.

Blood. 2017 Sep 14;130(11):1347-1356. doi: 10.1182/blood-2016-11-753525. Epub 2017 Jul 31.

15.

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.

16.

[Haematopoietic stem cell transplantation in pyruvate kinase deficiency: When is it indicated?]

Pérez-Albert P, Guillen M, Prudencio M, Gonzalez-Vicent M, Sevilla J.

An Pediatr (Barc). 2018 Feb;88(2):106-107. doi: 10.1016/j.anpedi.2017.02.016. Epub 2017 Apr 25. Spanish. No abstract available.

17.

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. doi: 10.1111/ejh.12874. Epub 2017 Apr 12.

PMID:
28295642
18.

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. doi: 10.1111/ijlh.12610. Epub 2017 Jan 30.

PMID:
28133914
19.

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 6;148(1):23-27. doi: 10.1016/j.medcli.2016.10.004. Epub 2016 Nov 19. English, Spanish.

PMID:
27871768
20.

Mitral Valve Replacement With Cardiopulmonary Bypass in a Patient With Pyruvate Kinase Deficiency.

Basantwani S, Govardhane B, Shinde S, Tendolkar B.

J Cardiothorac Vasc Anesth. 2017 Feb;31(1):262-265. doi: 10.1053/j.jvca.2016.03.146. Epub 2016 Mar 23. No abstract available.

PMID:
27498259

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