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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Detalhes bibliográficos
Publicado no:J Dev Behav Pediatr
Principais autores: 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
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha: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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