“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...

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Detalles Bibliográficos
Autores principales: Soliani, Luca, Salerno, Grazia Gabriella, Pisani, Francesco, Barigazzi, Ilaria, Rizzi, Susanna, Spagnoli, Carlotta, Frattini, Daniele, Zangrandi, Andrea, Fusco, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mattioli 1885 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716979/
https://www.ncbi.nlm.nih.gov/pubmed/32921771
http://dx.doi.org/10.23750/abm.v91i3.9272

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