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Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
Niemann Pick disease type C (NPC) is a neurovisceral disorder due to mutations in NPC1 or NPC2. This review focuses on poorly characterized clinical and molecular features of early infantile form of NPC (EIF) and identified 89 cases caused by NPC1 (NPC1) and 16 by NPC2 (NPC2) mutations. Extra-neuron...
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| Publicado en: | Int J Mol Sci |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
MDPI
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7404201/ https://ncbi.nlm.nih.gov/pubmed/32709131 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21145059 |
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