Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat
Frédéric Sedel , Brigitte Chabrol, Bertrand Audoin, Elsa Kaphan, Christine Tranchant, Tomasz Burzykowski, Ayman Tourbah, Marie T. Vanier, Damien Galanaud Abstract Niemann–Pick disease type C (NP-C) is a fatal progressive neurolipidosis involving neuronal storage of cholesterol and gangliosides. Miglustat, an inhibitor of glycosphingolipid synthesis, has been approved to treat neurological manifestations in adults and children [...]
