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Year Number of Results
2002 1
2003 1
2004 6
2005 5
2006 5
2007 5
2008 7
2009 6
2010 5
2011 3
2012 6
2013 6
2014 3
2015 5
2016 3
2017 6
2018 3
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2020 3
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2024 1
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78 results

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Page 1
Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole family.
Yazbeck E, Barth M, Boyer A, Caillaud C, Chabrol B, Dalle JH, Héron B, Mention K, Pettazzoni M, Peudenier-Robert S, Poulat AL, Podevin M, Rochereuil H, Roubertie A, Sarret C, Saunier-Vivar E, Thomas G, Vanier MT, Vincendon P, Sevin C. Yazbeck E, et al. Among authors: vanier mt. Arch Pediatr. 2026 Apr;33(3):105483. doi: 10.1016/j.arcped.2026.105483. Epub 2026 Feb 27. Arch Pediatr. 2026. PMID: 41760509
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.
Cuinat S, Rollier P, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Levade T, Vanier MT, Lion Francois L, Chemaly N, de Lattre C, Moreau C, Paquot A, Beghyn T, de Masfrand S, Bézieau S, Mercier S, Boespflug-Tanguy O. Cuinat S, et al. Among authors: vanier mt. Neurol Genet. 2025 Feb 26;11(2):e200243. doi: 10.1212/NXG.0000000000200243. eCollection 2025 Apr. Neurol Genet. 2025. PMID: 40017560 Free PMC article.
Acid sphingomyelinase deficiency in France: a retrospective survival study.
Mauhin W, Guffon N, Vanier MT, Froissart R, Cano A, Douillard C, Lavigne C, Héron B, Belmatoug N, Uzunhan Y, Lacombe D, Levade T, Duvivier A, Pulikottil-Jacob R, Laredo F, Pichard S, Lidove O; ASSUR Study Group. Mauhin W, et al. Among authors: vanier mt. Orphanet J Rare Dis. 2024 Aug 5;19(1):289. doi: 10.1186/s13023-024-03234-6. Orphanet J Rare Dis. 2024. PMID: 39103853 Free PMC article.
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B. Freihuber C, et al. Among authors: vanier mt. Orphanet J Rare Dis. 2023 Jul 21;18(1):204. doi: 10.1186/s13023-023-02804-4. Orphanet J Rare Dis. 2023. PMID: 37480097 Free PMC article.
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E. Geberhiwot T, et al. Among authors: vanier mt. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T. Bolton SC, et al. Among authors: vanier mt. Orphanet J Rare Dis. 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4. Orphanet J Rare Dis. 2022. PMID: 35164809 Free PMC article.
Prevalence of Cancer in Acid Sphingomyelinase Deficiency.
Mauhin W, Levade T, Vanier MT, Froissart R, Lidove O. Mauhin W, et al. Among authors: vanier mt. J Clin Med. 2021 Oct 28;10(21):5029. doi: 10.3390/jcm10215029. J Clin Med. 2021. PMID: 34768550 Free PMC article.
78 results