E. Beutler and G. Grabowski, Glucosylceramide lipidosis-Gaucher disease, The Metabolic and Molecular Bases of Inherited Disease, pp.3635-68, 2001.

J. Stirnemann, T. B. De-villemeur, D. Heraoui, and N. Belmatoug, Comite d'evaluation du traitement de la maladie de Gaucher, Rev Prat, vol.61, pp.165-173, 2011.

J. Charrow, H. C. Andersson, P. Kaplan, E. H. Kolodny, P. Mistry et al., The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease, Arch Intern Med, vol.160, pp.2835-2878, 2000.

G. A. Grabowski, Gaucher disease. Enzymology, genetics, and treatment, Adv Hum Genet, vol.21, pp.377-441, 1993.

P. Kaplan, H. C. Andersson, K. A. Kacena, and J. D. Yee, The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis, Arch Pediatr Adolesc Med, vol.160, pp.603-611, 2006.

J. Stirnemann and N. Belmatoug,

, Presse Med, vol.38, pp.2-3, 2009.

N. J. Weinreb, J. Goldblattr, J. Villalobos, J. Charrow, J. A. Cole et al., Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment, J Inherit Metab Dis, vol.36, pp.543-53, 2013.

, Gaucher Disease:National Diagnosis and Treatment Protocol

C. E. Hollak, M. Maas, and J. M. Aerts, Clinically relevant therapeutic endpoints in type I Gaucher disease, J Inherit Metab Dis, vol.24, issue.2, pp.187-108, 2001.

, Genzyme Corporation-a Sanofi company: Summary of Product Characteristics of Cerezyme® (imiglucerase

N. Weinreb, J. Taylor, T. Cox, J. Yee, and S. Vom-dahl, A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase, Am J Hematol, vol.83, pp.890-895, 2008.

G. A. Grabowski, K. Kacena, J. A. Cole, C. E. Hollak, L. Zhang et al., Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1, Genet Med, vol.11, pp.92-100, 2009.

G. M. Pastores, N. J. Weinreb, H. Aerts, G. Andria, T. M. Cox et al., Therapeutic goals in the treatment of Gaucher disease, Semin Hematol, vol.41, pp.4-14, 2004.

N. J. Weinreb, J. Charrow, H. C. Andersson, P. Kaplan, E. H. Kolodny et al., Effeectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease afteer 2 to 5 years of treatment: a report from the Gaucher Registry, Am J Med, vol.113, pp.112-121, 2002.

H. C. Andersson, J. Charrow, P. Kaplan, P. Mistry, G. M. Pastores et al., International Collaborative Gaucher Group USRC:Individualization of long-term enzyme replacement therapy for Gaucher disease, Genet Med, vol.7, pp.105-115, 2005.

M. De-fost, C. E. Hollak, J. E. Groener, J. M. Aerts, M. Maas et al., Superior effeects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis, Blood, vol.108, pp.830-835, 2006.

R. J. Wenstrup, K. A. Kacena, P. Kaplan, G. M. Pastores, A. Prakash-cheng et al., Effeect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease, J Bone Miner Res, vol.22, pp.119-145, 2007.

N. J. Weinreb, Imiglucerase and its use for the treatment of Gaucher's disease, Expert Opin Pharmacother, vol.9, pp.1987-2000, 2008.

, European Medicines Agency. Queestions and answers on the shortages of Cerezyme and Fabrazyme, 2009.

A. European-medicines, Updated temporary treatment recommendations for Cerezyme, 2009.

C. Hollak and . Force-majeure, Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease, Blood Cells Mol Dis, vol.44, pp.41-48, 2010.

J. Stirnemann, M. Vigan, D. Hamroun, D. Heraoui, L. Rossi-semerano et al., The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients, Orphanet J Rare Dis, vol.7, p.77, 2012.

A. Zimran, G. Altarescu, and D. Elstein, Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply, Blood Cells Mol Dis, vol.46, pp.111-115, 2011.

L. Deroma, A. Sechi, A. Dardis, D. Macor, G. Liva et al., Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patients, JIMD Rep, vol.7, pp.117-139, 2013.

L. Van-dussen, T. M. Cox, E. J. Hendriks, E. Morris, E. M. Akkerman et al., Effeects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes, Haematologica, vol.97, pp.1850-1854, 2012.

P. Giraldo, P. Irun, P. Alfonso, J. Dalmau, M. A. Fernandez-galan et al., Evaluation of Spanish Gaucher disease patients afteer a 6-month imiglucerase shortage, Blood Cells Mol Dis, vol.46, pp.115-123, 2011.

J. Goldblattr, J. M. Fletcher, . Mcgillj, J. Szer, and M. Wilson, Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia, Blood Cells Mol Dis, vol.46, pp.107-117, 2011.

Y. H. Chien, N. C. Lee, F. J. Tsai, M. C. Chao, and W. L. Hwu, Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease, Mol Genet Metab, vol.101, pp.90-91, 2010.

K. A. Grinzaid, E. Geller, and S. L. Hanna, Elsas 2nd LJ. Cessation of enzyme replacement therapy in Gaucher disease, Genet Med, vol.4, pp.427-460, 2002.

B. Czartoryska, A. Tylki-szymanska, and A. Lugowska, Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease, Clin Biochem, vol.33, pp.147-156, 2000.

J. Toth, M. Erdos, and L. Marodi, Rebound hepatosplenomegaly in type 1 Gaucher disease, Eur J Haematol, vol.70, pp.125-133, 2003.

G. Drelichman, E. Ponce, N. Basack, D. Freigeiro, L. Aversa et al., Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease, J Pediatr, vol.151, pp.197-201, 2007.

J. Stirnemann, N. Belmatoug, C. Vincent, O. Fain, B. Fantin et al., Bone events and evolution of biologic markers in Gaucher disease before and during treatment, Arthritis Res Ther, vol.12, p.156, 2010.
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