title: [Niemann-Pick type C disease. Rare but possible diagnosis in adult neurology and psychiatry].
authors.affiliation: Laboratoriet för neurokemi, klinisk kemi, Sahlgrenska universitetssjukhuset, Göteborg och MöIndal. niklas.mattsson@neuro.gu.se
authors.forename: Niklas
authors.initials: N
authors.lastname: Mattsson
authors.forename: Jan-Eric
authors.initials: JE
authors.lastname: Månsson
authors.forename: Maria
authors.initials: M
authors.lastname: Blomqvist
authors.forename: Erik
authors.initials: E
authors.lastname: Campbell
mesh_terms: D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D057210:Delayed Diagnosis; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D005347:Fibroblasts / Q000378:metabolism; D005372:Filipin / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009422:Nervous System Diseases / Q000209:etiology; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D011618:Psychotic Disorders / Q000209:etiology*; D035583:Rare Diseases / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D013194:Staining and Labeling / Q000379:methods; D016896:Treatment Outcome
chemical_list: D002352:Carrier Proteins; D004791:Enzyme 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