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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...
Autores principales: | Devaraj, Rashmi, Mahale, Rohan R., Sindhu, D. M., Stezin, Albert, Kamble, Nitish, Holla, Vikram V., Netravathi, M., Yadav, Ravi, Pal, Pramod Kumar |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ubiquity Press
2022
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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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