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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Publicat a:J Dev Behav Pediatr
Autors principals: Thurm, Audrey, Chlebowski, Colby, Joseph, Lisa, Farmer, Cristan, Adedipe, Dee, Weiss, Madison, Wiggs, Edythe, Farhat, Nicole, Bianconi, Simona, Berry-Kravis, Elizabeth, Porter, Forbes D.
Format: Artigo
Idioma:Inglês
Publicat: 2020
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Article
Accés en línia: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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