title: [Clinical and genetic special features of Niemann-Pick disease, type C].
abstract: Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation age, main clinical signs and clinical course, are distinguished. Niemann-Pick disease type C can imitate other hereditary and acquired diseases, which complicates its early diagnostics. Clinical and genetic diversity of this disorder, considered on the clinical cases diagnosed at the FSI "RCMG" of RAMS, are discussed in this review.
authors.forename: E Iu
authors.initials: EIu
authors.lastname: Zakharova
authors.forename: S V
authors.initials: SV
authors.lastname: Mikhaĭlova
authors.forename: T Iu
authors.initials: TIu
authors.lastname: Proshliakova
authors.forename: G E
authors.initials: GE
authors.lastname: Rudenskaia
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D015316:Genetic Therapy / Q000379:methods*; D014644:Genetic Variation; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D052556:Niemann-Pick Disease, Type C / Q000235:genetics* / Q000628:therapy
chemical_list: D002352:Carrier Proteins; D008562:Membrane Glycoproteins; D004247:DNA