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Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
Bartels M, van der Zalm MM, van Oirschot BA, Lee FS, Giles RH, Kruip MJ, Gitz-Francois JJ, Van Solinge WW, Bierings M, van Wijk R. Bartels M, et al. Among authors: van der zalm mm, van oirschot ba, van wijk r, van solinge ww. Hum Mutat. 2015 Nov;36(11):1039-42. doi: 10.1002/humu.22846. Epub 2015 Aug 17. Hum Mutat. 2015. PMID: 26224408
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.
Organ involvement occurs in all forms of hereditary haemolytic anaemia.
van Straaten S, Verhoeven J, Hagens S, Schutgens R, van Solinge W, van Wijk R, van Beers EJ. van Straaten S, et al. Among authors: van wijk r, van solinge w, van beers ej. Br J Haematol. 2019 May;185(3):602-605. doi: 10.1111/bjh.15575. Epub 2018 Sep 5. Br J Haematol. 2019. PMID: 30183081 Free article. Clinical Trial. 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.
600 results