Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1

OBJECTIVE: Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disease characterized by progressive neurodegeneration, with age of diagnosis ranging from the prenatal period through adulthood. Although neurological symptoms usually precede genetic diagnosis, they do not necessarily prompt di...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Dev Behav Pediatr
Autori principali: Thurm, Audrey, Chlebowski, Colby, Joseph, Lisa, Farmer, Cristan, Adedipe, Dee, Weiss, Madison, Wiggs, Edythe, Farhat, Nicole, Bianconi, Simona, Berry-Kravis, Elizabeth, Porter, Forbes D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
Soggetti:
Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7592416/
https://ncbi.nlm.nih.gov/pubmed/32073546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/DBP.0000000000000785
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi