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Page 1
Management of neuronopathic Gaucher disease: a European consensus.
Vellodi A, Bembi B, de Villemeur TB, Collin-Histed T, Erikson A, Mengel E, Rolfs A, Tylki-Szymanska A; Neuronopathic Gaucher Disease Task Force of the European Working Group on Gaucher Disease. Vellodi A, et al. Among authors: bembi b. J Inherit Metab Dis. 2001 Jun;24(3):319-27. doi: 10.1023/a:1010514614570. J Inherit Metab Dis. 2001. PMID: 11486896 Review. No abstract available.
Management of neuronopathic Gaucher disease: revised recommendations.
Vellodi A, Tylki-Szymanska A, Davies EH, Kolodny E, Bembi B, Collin-Histed T, Mengel E, Erikson A, Schiffmann R. Vellodi A, et al. Among authors: bembi b. J Inherit Metab Dis. 2009 Oct;32(5):660-664. doi: 10.1007/s10545-009-1164-2. Epub 2009 Aug 5. J Inherit Metab Dis. 2009. PMID: 19655269
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.
Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N, Bembi B, Chertkoff R, Vom Dahl S, Elstein D, Erikson A, Giralt M, Heitner R, Hollak C, Hrebicek M, Lewis S, Mehta A, Pastores GM, Rolfs A, Miranda MC, Zimran A; Advisory Council to the European Working Group on Gaucher Disease. Cox TM, et al. Among authors: bembi b. J Inherit Metab Dis. 2003;26(6):513-26. doi: 10.1023/a:1025902113005. J Inherit Metab Dis. 2003. PMID: 14605497 Review.
Neuronopathic forms of Gaucher's disease.
Erikson A, Bembi B, Schiffmann R. Erikson A, et al. Among authors: bembi b. Baillieres Clin Haematol. 1997 Dec;10(4):711-23. doi: 10.1016/s0950-3536(97)80035-2. Baillieres Clin Haematol. 1997. PMID: 9497859 Review.
Bone complications in children with Gaucher disease.
Bembi B, Ciana G, Mengel E, Terk MR, Martini C, Wenstrup RJ. Bembi B, et al. Br J Radiol. 2002;75 Suppl 1:A37-44. doi: 10.1259/bjr.75.suppl_1.750037. Br J Radiol. 2002. PMID: 12036831 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. Among authors: bembi b. 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
Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease.
Hollak CE, Aerts JM, Belmatoug N, Bembi B, Bodamer O, Cappellini D, Collin-Histed T, Cox TM, Deegan P, Giraldo P, Hughes D, Lukina E, Manuel J, Michelakakis H, Di Rocco M, Vellodi A, Zimran A. Hollak CE, et al. Among authors: bembi b. Blood Cells Mol Dis. 2010 Mar-Apr;44(2):86-7. doi: 10.1016/j.bcmd.2009.12.002. Blood Cells Mol Dis. 2010. PMID: 20022271 No abstract available.
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.
Mehta A, Belmatoug N, Bembi B, Deegan P, Elstein D, Göker-Alpan Ö, Lukina E, Mengel E, Nakamura K, Pastores GM, Pérez-López J, Schwartz I, Serratrice C, Szer J, Zimran A, Di Rocco M, Panahloo Z, Kuter DJ, Hughes D. Mehta A, et al. Among authors: bembi b. Mol Genet Metab. 2017 Nov;122(3):122-129. doi: 10.1016/j.ymgme.2017.08.002. Epub 2017 Aug 4. Mol Genet Metab. 2017. PMID: 28847676 Free article.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Göker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A. Mehta A, et al. Among authors: bembi b. Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156. Intern Med J. 2019. PMID: 30414226 Free PMC article. Review.
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Mengel E, Bembi B, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Symonds T, Hudgens S, Patterson MC, Guldberg C, Ingemann L, Petersen NHT, Kirkegaard T, Í Dali C. Mengel E, et al. Among authors: bembi b. Orphanet J Rare Dis. 2020 Nov 23;15(1):328. doi: 10.1186/s13023-020-01616-0. Orphanet J Rare Dis. 2020. PMID: 33228797 Free PMC article.
161 results