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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.
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: van beers e, van wijk r, van solinge w. 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.
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.
Rapid and reproducible characterization of sickling during automated deoxygenation in sickle cell disease patients.
Rab MAE, van Oirschot BA, Bos J, Merkx TH, van Wesel ACW, Abdulmalik O, Safo MK, Versluijs BA, Houwing ME, Cnossen MH, Riedl J, Schutgens REG, Pasterkamp G, Bartels M, van Beers EJ, van Wijk R. Rab MAE, et al. Among authors: van wesel acw, van oirschot ba, van wijk r, van beers ej. Am J Hematol. 2019 May;94(5):575-584. doi: 10.1002/ajh.25443. Epub 2019 Mar 8. Am J Hematol. 2019. PMID: 30784099 Free PMC article.
600 results