M. Vanier, Niemann-Pick disease type C, Orphanet Journal of Rare Diseases, vol.5, issue.1, p.16, 2010.
DOI : 10.1186/1750-1172-5-16

URL : https://hal.archives-ouvertes.fr/inserm-00410410

J. Wraith, M. Baumgartner, B. Bembi, A. Covanis, T. Levade et al., Recommendations on the diagnosis and management of Niemann-Pick disease type C, Molecular Genetics and Metabolism, vol.98, issue.1-2, pp.152-165, 2009.
DOI : 10.1016/j.ymgme.2009.06.008

URL : https://hal.archives-ouvertes.fr/inserm-00410410

J. Wraith, N. Guffon, M. Rohrbach, W. Hwu, G. Korenke et al., Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study, Molecular Genetics and Metabolism, vol.98, issue.3, pp.250-254, 2009.
DOI : 10.1016/j.ymgme.2009.06.009

M. Pineda, J. Wraith, E. Mengel, F. Sedel, W. Hwu et al., Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study, Molecular Genetics and Metabolism, vol.98, issue.3, pp.243-249, 2009.
DOI : 10.1016/j.ymgme.2009.07.003

N. Yanjanin, J. Velez, A. Gropman, K. King, S. Bianconi et al., Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol.11, pp.132-140, 2010.
DOI : 10.1002/ajmg.b.30969

M. Vanier and G. Millat, Niemann-Pick disease type C, Clinical Genetics, vol.11, issue.5323, pp.269-281, 2003.
DOI : 10.1034/j.1399-0004.2003.00147.x

URL : https://hal.archives-ouvertes.fr/inserm-00410410

H. Poupetova, J. Ledvinova, L. Berna, L. Dvorakova, V. Kozich et al., The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations, Journal of Inherited Metabolic Disease, vol.93, issue.2, pp.387-396, 2010.
DOI : 10.1007/s10545-010-9093-7

M. Vanier, D. Wenger, M. Comly, R. Rousson, R. Brady et al., Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients, Clinical Genetics, vol.23, issue.5, pp.331-348, 1988.
DOI : 10.1111/j.1399-0004.1988.tb03460.x

R. Spiegel, A. Raas-rothschild, O. Reish, M. Regev, V. Meiner et al., The clinical spectrum of fetal Niemann-Pick type C, American Journal of Medical Genetics Part A, vol.51, issue.3, pp.446-450, 2009.
DOI : 10.1002/ajmg.a.32642

J. Imrie, S. Dasgupta, G. Besley, C. Harris, L. Heptinstall et al., The natural history of Niemann???Pick disease type C in the UK, Journal of Inherited Metabolic Disease, vol.1096, issue.1, pp.51-59, 2007.
DOI : 10.1007/s10545-006-0384-7

C. Iturriaga, M. Pineda, E. Fernandez-valero, M. Vanier, and M. Coll, Niemann???Pick C disease in Spain: Clinical spectrum and development of a disability scale, Journal of the Neurological Sciences, vol.249, issue.1, pp.1-6, 2006.
DOI : 10.1016/j.jns.2006.05.054

M. Vanier, P. Pentchev, C. Rodriguez-lafrasse, and R. Rousson, Niemann-Pick disease type C: An update, Journal of Inherited Metabolic Disease, vol.23, issue.4, pp.580-595, 1991.
DOI : 10.1007/BF01797928

B. Heron and H. Ogier, La maladie de Niemann-Pick type C : diagnostic clinique des formes p??diatriques, Archives de P??diatrie, vol.17, issue.2, pp.45-49, 2010.
DOI : 10.1016/S0929-693X(10)70011-7

D. Kelly, B. Portmann, A. Mowat, S. Sherlock, and B. Lake, Niemann-Pick disease type C: Diagnosis and outcome in children, with particular reference to liver disease, The Journal of Pediatrics, vol.123, issue.2, pp.242-247, 1993.
DOI : 10.1016/S0022-3476(05)81695-6

M. Sevin, G. Lesca, N. Baumann, G. Millat, O. Lyon-caen et al., The adult form of Niemann-Pick disease type C, Brain, vol.130, issue.1, pp.120-133, 2007.
DOI : 10.1093/brain/awl260

M. Zervas, K. Somers, M. Thrall, and S. Walkley, Critical role for glycosphingolipids in Niemann-Pick disease type C, Current Biology, vol.11, issue.16, pp.1283-1287, 2001.
DOI : 10.1016/S0960-9822(01)00396-7

R. Lachmann, D. Te-vruchte, E. Lloyd-evans, G. Reinkensmeier, D. Sillence et al., Treatment with miglustat reverses the lipid-trafficking defect in Niemann???Pick disease type C, Neurobiology of Disease, vol.16, issue.3, pp.654-658, 2004.
DOI : 10.1016/j.nbd.2004.05.002

M. Patterson, D. Vecchio, J. E. Abel, L. Chadha-boreham, H. Luzy et al., Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C, Journal of Child Neurology, vol.72, issue.12, pp.300-305, 2010.
DOI : 10.1177/0883073809344222

M. Patterson, D. Vecchio, H. Prady, L. Abel, and J. Wraith, Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study, The Lancet Neurology, vol.6, issue.9, pp.765-772, 2007.
DOI : 10.1016/S1474-4422(07)70194-1

J. Wraith, D. Vecchio, J. E. Abel, L. Chadha-boreham, H. Luzy et al., Miglustat in adult and juvenile patients with Niemann???Pick disease type C: Long-term data from a clinical trial, Molecular Genetics and Metabolism, vol.99, issue.4, pp.351-357, 2010.
DOI : 10.1016/j.ymgme.2009.12.006

A. Paciorkowski, M. Westwell, S. Ounpuu, K. Bell, J. Kagan et al., Motion analysis of a child with Niemann-Pick disease type C treated with miglustat, Movement Disorders, vol.118, issue.1, pp.124-128, 2008.
DOI : 10.1002/mds.21779

Y. Chien, N. Lee, L. Tsai, A. Huang, S. Peng et al., Treatment of Niemann???Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1??year, Journal of Inherited Metabolic Disease, vol.30, issue.5, p.826, 2007.
DOI : 10.1007/s10545-007-0630-y

D. Galanaud, A. Tourbah, S. Lehericy, N. Leveque, B. Heron et al., 24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy, Molecular Genetics and Metabolism, vol.96, issue.2, pp.55-58, 2009.
DOI : 10.1016/j.ymgme.2008.10.002

URL : https://hal.archives-ouvertes.fr/hal-00805433

M. Santos, S. Raskin, D. Telles, A. Lohr, . Jr et al., Treatment of a child diagnosed with Niemann???Pick disease type C with miglustat: A case report in Brazil, Journal of Inherited Metabolic Disease, vol.11, issue.Pt 1, pp.31-357, 2008.
DOI : 10.1007/s10545-008-0923-9

M. Pineda, M. Perez-poyato, O. Callaghan, M. Vilaseca, M. Pocovi et al., Clinical experience with miglustat therapy in pediatric patients with Niemann???Pick disease type C: A case series, Molecular Genetics and Metabolism, vol.99, issue.4, pp.358-366, 2010.
DOI : 10.1016/j.ymgme.2009.11.007

S. Fecarotta, M. Amitrano, A. Romano, D. Casa, R. Bruschini et al., The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat, American Journal of Medical Genetics Part A, vol.11, issue.3, pp.540-547, 2011.
DOI : 10.1002/ajmg.a.33847

G. Tedeschi, S. Bonavita, N. Barton, A. Betolino, J. Frank et al., Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease, Journal of Neurology, Neurosurgery & Psychiatry, vol.65, issue.1, pp.72-79, 1998.
DOI : 10.1136/jnnp.65.1.72

L. Verot, K. Chikh, E. Freydiere, R. Honore, M. Vanier et al., Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2, Clinical Genetics, vol.30, issue.Suppl. 1, pp.320-330, 2007.
DOI : 10.1111/j.1399-0004.2007.00782.x

G. Millat, N. Bailo, S. Molinero, C. Rodriguez, K. Chikh et al., Niemann???Pick C disease: Use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families???, Molecular Genetics and Metabolism, vol.86, issue.1-2, pp.220-232, 2005.
DOI : 10.1016/j.ymgme.2005.07.007

G. Millat, C. Marcais, C. Tomasetto, K. Chikh, A. Fensom et al., Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop, The American Journal of Human Genetics, vol.68, issue.6, pp.1373-1385, 2001.
DOI : 10.1086/320606

M. Zarowski, B. Steinborn, B. Gurda, L. Dvorakova, H. Vlaskova et al., Treatment of cataplexy in Niemann???Pick disease type C with the use of miglustat, European Journal of Paediatric Neurology, vol.15, issue.1, pp.84-87, 2011.
DOI : 10.1016/j.ejpn.2010.02.001

H. Champion, U. Ramaswami, J. Imrie, R. Lachmann, J. Gallagher et al., Dietary modifications in patients receiving miglustat, Journal of Inherited Metabolic Disease, vol.11, issue.6, 2010.
DOI : 10.1007/s10545-010-9193-4

N. Belmatoug, A. Burlina, P. Giraldo, C. Hendriksz, D. Kuter et al., Gastrointestinal disturbances and their management in miglustat-treated patients, Journal of Inherited Metabolic Disease, vol.11, issue.5, pp.991-1001, 2011.
DOI : 10.1007/s10545-011-9368-7

M. Patterson, C. Hendriksz, M. Walterfang, F. Sedel, M. Vanier et al., Recommendations for the diagnosis and management of Niemann???Pick disease type C: An update, Molecular Genetics and Metabolism, vol.106, issue.3, pp.330-344, 2012.
DOI : 10.1016/j.ymgme.2012.03.012