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The adult form of Niemann-Pick disease type C.
Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F. Sévin M, et al. Among authors: vanier mt. Brain. 2007 Jan;130(Pt 1):120-33. doi: 10.1093/brain/awl260. Epub 2006 Sep 26. Brain. 2007. PMID: 17003072 Review.
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: vanier mt. 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.
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: vanier mt. 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.
Niemann-Pick diseases.
Vanier MT. Vanier MT. Handb Clin Neurol. 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1. Handb Clin Neurol. 2013. PMID: 23622394 Review.
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.
Mercati O, Pichard S, Ouachée M, Froissart R, Fenneteau O, Roche B, Elmaleh-Bergès M, Bertrand Y, Ogier de Baulny H, Vanier MT, Schiff M. Mercati O, et al. Among authors: vanier mt. Eur J Paediatr Neurol. 2017 Nov;21(6):907-911. doi: 10.1016/j.ejpn.2017.07.015. Epub 2017 Jul 29. Eur J Paediatr Neurol. 2017. PMID: 28801223
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Geberhiwot T, et al. Among authors: vanier mt. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Orphanet J Rare Dis. 2018. PMID: 29625568 Free PMC article. Review.
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B. Nadjar Y, et al. Among authors: vanier mt. Orphanet J Rare Dis. 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4. Orphanet J Rare Dis. 2018. PMID: 30285904 Free PMC article.
236 results