Area of research
Physiology · Organic Chemistry
Research interest
Research focused on type C and Disease, with related work in NPC1, Pediatrics, Cohort. Notable publications include 'Consensus clinical management guidelines for Niemann-Pick disease type C', 'Complex lipid trafficking in Niemann‐Pick disease type C', and 'Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease'.
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
Long‐term survival outcomes of patients with <scp>Niemann‐Pick</scp> disease type C receiving miglustat treatment: A large retrospective observational study
Consensus clinical management guidelines for Niemann-Pick disease type C
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study
Complex lipid trafficking in Niemann‐Pick disease type C
Disease and patient characteristics in NP-C patients: findings from an international disease registry
Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease
Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry
The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review