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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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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
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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
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