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Patient with Niemann-Pick disease type C: over 20 years' follow-up
We report a 37-year-old woman with Niemann-Pick disease type C (NPC) 1. At the age of 8 years, she presented slow running followed by both fingers dystonia at the age of 10 years. At the age of 16 years, she developed declined scholastic achievement. On her first visit at the age of 17 years, she sh...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BMJ Publishing Group
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613829/ https://www.ncbi.nlm.nih.gov/pubmed/28830896 http://dx.doi.org/10.1136/bcr-2017-220134 |