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The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi-Semerano L, Berger MG, Rose C, Camou F, de Roux-Serratrice C, Grosbois B, Kaminsky P, Robert A, Caillaud C, Froissart R, Levade T, Masseau A, Mignot C, Sedel F, Dobbelaere D, Vanier MT, Valayanopoulos V, Fain O, Fantin B, de Villemeur TB, Mentré F, Belmatoug N. Stirnemann J, et al. Among authors: dobbelaere d. Orphanet J Rare Dis. 2012 Oct 9;7:77. doi: 10.1186/1750-1172-7-77. Orphanet J Rare Dis. 2012. PMID: 23046562 Free PMC article.
Gaucher disease and monoclonal gammopathy: a report of 17 cases and impact of therapy.
Grosbois B, Rose C, Noël E, Serratrice Cde R, Dobbelaere D, Gressin V, Chérin P, Hartmann A, Javier RM, Clerson P, Hachulla E, Jaussaud R; Investigators of the French Observatoire on Gaucher Disease. Grosbois B, et al. Among authors: dobbelaere d. Blood Cells Mol Dis. 2009 Jul-Aug;43(1):138-9. doi: 10.1016/j.bcmd.2009.04.002. Epub 2009 May 8. Blood Cells Mol Dis. 2009. PMID: 19427246 No abstract available.
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, Munnich A, Saudubray JM, Rabier D, Rigal O, Brivet M. Boutron A, et al. Among authors: dobbelaere d. Mol Genet Metab. 2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006. Epub 2011 Apr 19. Mol Genet Metab. 2011. PMID: 21549624
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT. Héron B, et al. Among authors: dobbelaere d. Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36. Orphanet J Rare Dis. 2012. PMID: 22676771 Free PMC article. Clinical Trial.
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R. Hollak CE, et al. Among authors: dobbelaere d. Orphanet J Rare Dis. 2016 Jan 25;11:7. doi: 10.1186/s13023-016-0383-5. Orphanet J Rare Dis. 2016. PMID: 26809514 Free PMC article.
Betaine anhydrous in homocystinuria: results from the RoCH registry.
Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, García-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L, Rigalleau V, Touati G, Aldamiz-Echevarria L, Cathebras P, Eyer D, Brunet D, Damaj L, Dobbelaere D, Gay C, Hiéronimus S, Levrat V, Maillot F. Valayannopoulos V, et al. Among authors: dobbelaere d. Orphanet J Rare Dis. 2019 Mar 14;14(1):66. doi: 10.1186/s13023-019-1036-2. Orphanet J Rare Dis. 2019. PMID: 30871635 Free PMC article.
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
Nguyen Y, Stirnemann J, Lautredoux F, Cador B, Bengherbia M, Yousfi K, Hamroun D, Astudillo L, Billette de Villemeur T, Brassier A, Camou F, Dalbies F, Dobbelaere D, Gaches F, Leguy-Seguin V, Masseau A, Pers YM, Pichard S, Serratrice C, Berger MG, Fantin B, Belmatoug N, On Behalf Of The French Evaluation Of Gaucher Disease Treatment Committee. Nguyen Y, et al. Among authors: dobbelaere d. Int J Mol Sci. 2020 Feb 13;21(4):1247. doi: 10.3390/ijms21041247. Int J Mol Sci. 2020. PMID: 32069933 Free PMC article.
195 results