2013•Parkinsonism & Related DisordersRequires access

Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat

Silvia Jesús, María Teresa Cáceres‐Redondo, Fátima Carrillo, Isabel Cordones, Miguel Escudero, Judit Macías‐Vidal, María Josep Coll, Juan Bautista, Pablo Mir

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Key concepts: Filipin, NPC1, Niemann–Pick disease, type C, Niemann–Pick disease, Phenotype, Lysosomal storage disease, Sphingolipid, Cholesterol