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Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools
Niemann–Pick disease type C (NP-C) is a rare multisystemic lysosomal disorder which, albeit treatable, is still starkly underdiagnosed. As NP-C features early onset ataxia (EOA) in 85–90 % of cases, EOA presents a promising target group for undiagnosed NP-C patients. Here, we assessed the ability of...
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| Publicado no: | J Neurol |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5037150/ https://ncbi.nlm.nih.gov/pubmed/27314965 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-016-8178-0 |
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