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Recommendations for diagnosis and treatment of methemoglobinemia.
Iolascon A, Bianchi P, Andolfo I, Russo R, Barcellini W, Fermo E, Toldi G, Ghirardello S, Rees D, Van Wijk R, Kattamis A, Gallagher PG, Roy N, Taher A, Mohty R, Kulozik A, De Franceschi L, Gambale A, De Montalembert M, Forni GL, Harteveld CL, Prchal J; SWG of red cell and iron of EHA and EuroBloodNet. Iolascon A, et al. Among authors: van wijk r. Am J Hematol. 2021 Dec 1;96(12):1666-1678. doi: 10.1002/ajh.26340. Epub 2021 Sep 23. Am J Hematol. 2021. PMID: 34467556 Free PMC article. Review.
Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts.
Satchwell TJ, Bell AJ, Hawley BR, Pellegrin S, Mordue KE, van Deursen CT, Braak NH, Huls G, Leers MP, Overwater E, Tamminga RY, van der Zwaag B, Fermo E, Bianchi P, van Wijk R, Toye AM. Satchwell TJ, et al. Among authors: van wijk r, van der zwaag b, van deursen ct. Haematologica. 2016 Sep;101(9):1018-27. doi: 10.3324/haematol.2016.146209. Epub 2016 May 31. Haematologica. 2016. PMID: 27247322 Free PMC article.
Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families.
Fermo E, Vercellati C, Marcello AP, Zaninoni A, van Wijk R, Mirra N, Curcio C, Cortelezzi A, Zanella A, Barcellini W, Bianchi P. Fermo E, et al. Among authors: van wijk r. Case Rep Hematol. 2017;2017:2769570. doi: 10.1155/2017/2769570. Epub 2017 Mar 6. Case Rep Hematol. 2017. PMID: 28367341 Free PMC 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. Among authors: van beers e, van wijk r. 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.
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Bianchi P, et al. Among authors: van wijk r, van beers ej. Am J Hematol. 2020 May;95(5):472-482. doi: 10.1002/ajh.25753. Epub 2020 Mar 6. Am J Hematol. 2020. PMID: 32043619 Free PMC article.
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