Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease

Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease

BackgroundNiemann-Pick type C (NPC) disease is a rare neurodegenerative disorder with a wide spectrum of clinical manifestations and genetic variability. This cross-sectional study aimed to comprehensively describe the neuropsychological impact of NPC and investigate its correlation with specific ge...

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Bibliographic Details
Main Authors: Rita dos Santos Mendes, Daniel Almeida do Valle, Tiago dos Santos Bara, Vanessa Furlin, Michelle da Silva Zeny, Mara Lúcia Schmitz Ferreira Santos, Mara L. Cordeiro
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Neurology
Subjects:
Niemann-Pick disease type C
neuropsychological assessment
mental disorders
metabolic rare disorders
genetic association studies
NPC
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2025.1542310/full
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https://www.frontiersin.org/articles/10.3389/fneur.2025.1542310/full

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