Recommendations for the detection and diagnosis of Niemann-Pick disease type C
Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, ju...
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| Autores principales: | , , , , , , , , , , , , , , , , , |
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| Formato: | Revisão |
| Lenguaje: | inglés |
| Publicado: |
2017
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| Acceso en línea: | https://doi.org/10.1212/cpj.0000000000000399 https://cp.neurology.org/content/neurclinpract/7/6/499.full.pdf |
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