Marie T. Vanier

Inserm — France

Medicine · Health Sciences

63h-index14.4kcitations186works2.72yr avg
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Research Topics

Lysosomal Storage Disorders Research(143), Carbohydrate Chemistry and Synthesis(47), Autoimmune and Inflammatory Disorders Research(29), Cellular transport and secretion(27), Child Nutrition and Feeding Issues(26)

Publications184 total

Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort
Molecular Genetics and Metabolism·2025· 2 cited
Acid Sphingomyelinase Deficiency: Laboratory Diagnosis, Genetic and Epidemiologic Aspects of a 50-Year French Cohort
SSRN Electronic Journal·2025Open Access
Acid sphingomyelinase deficiency in France: a retrospective survival study
Orphanet Journal of Rare Diseases·2024· 6 citedOpen Access
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
Orphanet Journal of Rare Diseases·2023· 13 citedOpen Access
Effects of miglustat therapy on neurological disorder and survival in early- infantile Niemann-Pick disease type C: a national French retrospective study
Research Square (Research Square)·2023Open Access
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
Orphanet Journal of Rare Diseases·2023· 77 citedOpen Access
Overview of Niemann-Pick type C disease in France 1975–2020: Evolution in diagnostic strategy, molecular genetics profiles and phenotypic correlations
Molecular Genetics and Metabolism·2023
Acid sphingomyelinase deficiency: Epidemiologic and genetic aspects of a French cohort 1974–2021
Molecular Genetics and Metabolism·2023· 4 cited
Additional file 1 of Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
Figshare·2023Open Access
Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B)
2022· 3 citedOpen Access
A Retrospective Multicentric Study of 34 Patients with Niemann–Pick Type C Disease and Early Liver Involvement in France
The Journal of Pediatrics·2022· 5 cited
Niemann‐Pick Disease Type C
2022· 85 cited
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Orphanet Journal of Rare Diseases·2022· 36 citedOpen Access
Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses
2022· 6 cited
Prevalence of Cancer in Acid Sphingomyelinase Deficiency
Journal of Clinical Medicine·2021· 13 citedOpen Access
Clinical disease characteristics of patients with Niemann-Pick Disease Type C – findings from the International Niemann-Pick Disease Registry (INPDR)
2021· 5 citedOpen Access
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
Orphanet Journal of Rare Diseases·2021· 63 citedOpen Access
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
Orphanet Journal of Rare Diseases·2020· 92 citedOpen Access
Long‐term survival outcomes of patients with <scp>Niemann‐Pick</scp> disease type C receiving miglustat treatment: A large retrospective observational study
Journal of Inherited Metabolic Disease·2020· 64 citedOpen Access
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
Orphanet Journal of Rare Diseases·2020· 10 citedOpen Access
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Frequent Co-authors

Marc C. Patterson(10), Eugen Mengel(8), Steven U. Walkley(7), Peter G. Pentchev(5), David A. Wenger(5), Gilles Millat(5), Frédéric Sedel(4), Daniel Ory(4), Bruno Bembi(4), Jill A. Morris(3), Marcella Comly(3), Adele Cooney(3), Kousaku Ohno(3), Roscoe O. Brady(3), Christian J. Hendriksz(3), Mark Walterfang(3), Cristin Davidson(3), Kostantin Dobrenis(3), Lucie Vérot(3), Paul Gissen(3)