“Neuropsychological and behavioral disorders as presentation symptoms in two brothers with early-infantile Niemann-Pick type C”

BACKGROUND: Niemann-Pick disease type C (NPC) is a lysosomal storage disease caused by mutations in NPC1 or NPC2 genes. CASE PRESENTATION: We present two brothers with the same compound heterozygous variants in exon 13 of the NPC1 gene (18q11.2), the first one (c.1955C> G, p. Ser652Trp), inherite...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Acta Biomed
Main Authors: Soliani, Luca, Salerno, Grazia Gabriella, Pisani, Francesco, Barigazzi, Ilaria, Rizzi, Susanna, Spagnoli, Carlotta, Frattini, Daniele, Zangrandi, Andrea, Fusco, Carlo
Formato: Artigo
Idioma:Inglês
Publicado em: Mattioli 1885 2020
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7716979/
https://ncbi.nlm.nih.gov/pubmed/32921771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.23750/abm.v91i3.9272
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados