title: Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.
authors.forename: Silvia
authors.initials: S
authors.lastname: Jesús
authors.forename: María T
authors.initials: MT
authors.lastname: Cáceres-Redondo
authors.forename: Fátima
authors.initials: F
authors.lastname: Carrillo
authors.forename: Isabel
authors.initials: I
authors.lastname: Cordones
authors.forename: Miguel
authors.initials: M
authors.lastname: Escudero
authors.forename: Judit
authors.initials: J
authors.lastname: Macías-Vidal
authors.forename: María J
authors.initials: MJ
authors.lastname: Coll
authors.forename: Juan
authors.initials: J
authors.lastname: Bautista
authors.forename: Pablo
authors.initials: P
authors.lastname: Mir
mesh_terms: D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000203:Activities of Daily Living; D000328:Adult; D000900:Anti-Bacterial Agents; D002352:Carrier Proteins / Q000235:genetics; D004185:Disability Evaluation; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D005372:Filipin; D065089:Glycoside Hydrolase Inhibitors; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000188:drug therapy* / Q000235:genetics*; D010641:Phenotype; D011597:Psychomotor Performance / Q000502:physiology; D012438:Saccades / Q000502:physiology
chemical_list: D000900:Anti-Bacterial Agents; D002352:Carrier Proteins; D004791:Enzyme Inhibitors; D065089:Glycoside Hydrolase Inhibitors; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein; D017485:1-Deoxynojirimycin; D005372:Filipin; C059896:miglustat