title: [Niemann-Pick disease type C in monozygotic twins].
abstract: The Authors describe two monochorionic twins affected by Niemann-Pick disease type C with a clinical picture beginning in the neonatal age and with a progressive mental deterioration, loss of speech and spasticity started at 30 months. The importance of cultured skin fibroblasts is emphasized. The evidence of a defective intracellular cholesterol esterification is established as an intrinsic feature of Niemann-Pick disease type C.
authors.affiliation: Divisione di Pediatria, Ospedale Maria Vittoria, Torino.
authors.forename: L
authors.initials: L
authors.lastname: Orecchia
authors.forename: G
authors.initials: G
authors.lastname: Signorile
authors.forename: A
authors.initials: A
authors.lastname: Pezzano
authors.forename: R
authors.initials: R
authors.lastname: Bianco
authors.forename: A
authors.initials: A
authors.lastname: Iavarone
authors.forename: P
authors.initials: P
authors.lastname: Stradoni
authors.forename: P N
authors.initials: PN
authors.lastname: De Sario
mesh_terms: D002478:Cells, Cultured; D002675:Child, Preschool; D004200:Diseases in Twins / Q000175:diagnosis*; D005260:Female; D005347:Fibroblasts; D006801:Humans; D009542:Niemann-Pick Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D014430:Twins, Monozygotic / Q000235:genetics*
vernacular_title: La malattia di Niemann-Pick di tipo C in gemelle monocoriali.