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Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
Fermo E, Bianchi P, Chiarelli LR, Cotton F, Vercellati C, Writzl K, Baker K, Hann I, Rodwell R, Valentini G, Zanella A. Fermo E, et al. Among authors: bianchi p. Br J Haematol. 2005 Jun;129(6):839-46. doi: 10.1111/j.1365-2141.2005.05520.x. Br J Haematol. 2005. PMID: 15953013 Free article.
Pyruvate kinase deficiency: the genotype-phenotype association.
Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Zanella A, et al. Among authors: bianchi p. Blood Rev. 2007 Jul;21(4):217-31. doi: 10.1016/j.blre.2007.01.001. Epub 2007 Mar 13. Blood Rev. 2007. PMID: 17360088 Review.
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. van Straaten S, et al. Among authors: bianchi p. Haematologica. 2018 Feb;103(2):e82-e86. doi: 10.3324/haematol.2017.177857. Epub 2017 Dec 14. Haematologica. 2018. PMID: 29242305 Free PMC article. No abstract available.
A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat.
Aksu T, Yarali N, Fermo E, Marcello A, Hacisalihoğlu Ş, Bianchi P, Özbek NY. Aksu T, et al. Among authors: bianchi p. J Pediatr Hematol Oncol. 2018 Oct;40(7):e458-e460. doi: 10.1097/MPH.0000000000001073. J Pediatr Hematol Oncol. 2018. PMID: 29309376
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. Grace RF, et al. Among authors: bianchi p. Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16. Blood. 2018. PMID: 29549173 Free article.
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Bianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, Eber S, Hoyer JD, Kuter DJ, Maia TM, Mañu-Pereira MDM, Kalfa TA, Pissard S, Segovia JC, van Beers E, Gallagher PG, Rees DC, van Wijk R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases. Bianchi P, et al. Am J Hematol. 2019 Jan;94(1):149-161. doi: 10.1002/ajh.25325. Epub 2018 Nov 28. Am J Hematol. 2019. PMID: 30358897 Free PMC article.
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