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...

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Publicado en:J Dev Behav Pediatr
Autores principales: Thurm, Audrey, Chlebowski, Colby, Joseph, Lisa, Farmer, Cristan, Adedipe, Dee, Weiss, Madison, Wiggs, Edythe, Farhat, Nicole, Bianconi, Simona, Berry-Kravis, Elizabeth, Porter, Forbes D.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2020
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Article
Acceso en línea: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
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