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Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disorder with a heterogeneous phenotype including ataxia, cognitive impairment, impairment of vertical saccades, and psychiatric symptoms, among many others. Based on clinical, genetic, and biomarker findings, recent guidelines p...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6323013/ https://ncbi.nlm.nih.gov/pubmed/30187371 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_133 |
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