F. Sedel

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

M. Pineda, J. E. Wraith, Eugen Mengel et al. · Molecular Genetics and Metabolism · 2009 · 193 citations

Medicine, Internal Medicine, Clinical Epidemiology +3

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

J. E. Wraith, Nathalie Guffon, Marianne Rohrbach et al. · Molecular Genetics and Metabolism · 2009 · 109 citations

Medicine, Internal Medicine, Pathology +6

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Peter Bauer, David J. Balding, Hans H. Klünemann et al. · Human Molecular Genetics · 2013 · 82 citations · Full text

Life Sciences, Genetics, Neurology +17

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency

Vassili Valayannopoulos, Nathalie Boddaert, Karine Mention et al. · Molecular Genetics and Metabolism · 2009 · 48 citations

Life Sciences, Biochemistry, Physiology +8

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

Fanny Mochel, F. Sedel, Adeline Vanderver et al. · Brain · 2009 · 42 citations · Full text

Life Sciences, Neurology, Neuroscience +17