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Page 1
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response.
Dekker N, van Dussen L, Hollak CE, Overkleeft H, Scheij S, Ghauharali K, van Breemen MJ, Ferraz MJ, Groener JE, Maas M, Wijburg FA, Speijer D, Tylki-Szymanska A, Mistry PK, Boot RG, Aerts JM. Dekker N, et al. Blood. 2011 Oct 20;118(16):e118-27. doi: 10.1182/blood-2011-05-352971. Epub 2011 Aug 25. Blood. 2011. PMID: 21868580 Free PMC article.
Therapeutic goals in the treatment of Gaucher disease.
Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A. Pastores GM, et al. Semin Hematol. 2004 Oct;41(4 Suppl 5):4-14. doi: 10.1053/j.seminhematol.2004.07.009. Semin Hematol. 2004. PMID: 15468045 Review.
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A; International Collaborative Gaucher Group (ICGG). Weinreb NJ, et al. Semin Hematol. 2004 Oct;41(4 Suppl 5):15-22. doi: 10.1053/j.seminhematol.2004.07.010. Semin Hematol. 2004. PMID: 15468046
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.
Cox TM, Aerts JM, Belmatoug N, Cappellini MD, vom Dahl S, Goldblatt J, Grabowski GA, Hollak CE, Hwu P, Maas M, Martins AM, Mistry PK, Pastores GM, Tylki-Szymanska A, Yee J, Weinreb N. Cox TM, et al. J Inherit Metab Dis. 2008 Jun;31(3):319-36. doi: 10.1007/s10545-008-0779-z. Epub 2008 May 23. J Inherit Metab Dis. 2008. PMID: 18509745 Review.
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
Hollak CE, vom Dahl S, Aerts JM, Belmatoug N, Bembi B, Cohen Y, Collin-Histed T, Deegan P, van Dussen L, Giraldo P, Mengel E, Michelakakis H, Manuel J, Hrebicek M, Parini R, Reinke J, di Rocco M, Pocovi M, Sa Miranda MC, Tylki-Szymanska A, Zimran A, Cox TM. Hollak CE, et al. Blood Cells Mol Dis. 2010 Jan 15;44(1):41-7. doi: 10.1016/j.bcmd.2009.09.006. Epub 2009 Oct 4. Blood Cells Mol Dis. 2010. PMID: 19804996
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
de Ru MH, Teunissen QG, van der Lee JH, Beck M, Bodamer OA, Clarke LA, Hollak CE, Lin SP, Rojas MV, Pastores GM, Raiman JA, Scarpa M, Treacy EP, Tylki-Szymanska A, Wraith JE, Zeman J, Wijburg FA. de Ru MH, et al. Orphanet J Rare Dis. 2012 Apr 23;7:22. doi: 10.1186/1750-1172-7-22. Orphanet J Rare Dis. 2012. PMID: 22524701 Free PMC article.
276 results