Clinical and neurophysiological characteristics of heterozygous NPC1 carriers

Niemann‐Pick disease type C (NPC) is an uncommon lysosomal storage disorder, which is characterized neuropathologically by cholinergic dysfunction and presents clinically with a broad series of neurological signs and symptoms. NPC is inherited as an autosomal recessive trait, caused by mutations in...

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Detalles Bibliográficos
Autores principales: Benussi, Alberto, Cotelli, Maria S., Cantoni, Valentina, Bertasi, Valeria, Turla, Marinella, Dardis, Andrea, Biasizzo, Jessica, Manenti, Rosa, Cotelli, Maria, Padovani, Alessandro, Borroni, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718120/
https://www.ncbi.nlm.nih.gov/pubmed/31497485
http://dx.doi.org/10.1002/jmd2.12059

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718120/
https://www.ncbi.nlm.nih.gov/pubmed/31497485
http://dx.doi.org/10.1002/jmd2.12059

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