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Spectrum of Movement Disorders in Niemann-Pick Disease Type C

INTRODUCTION: Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder caused by mutations in the NPC 1 or 2 genes. Movement disorders can occur as the first symptom and as predominant symptom mainly in juvenile-onset. The frequency and heterogeneity of moveme...

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Detalles Bibliográficos
Autores principales: Devaraj, Rashmi, Mahale, Rohan R., Sindhu, D. M., Stezin, Albert, Kamble, Nitish, Holla, Vikram V., Netravathi, M., Yadav, Ravi, Pal, Pramod Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9479749/
https://www.ncbi.nlm.nih.gov/pubmed/36187872
http://dx.doi.org/10.5334/tohm.701

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