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...

Descripción completa

Detalles Bibliográficos
Autores principales: Synofzik, Matthis, Fleszar, Zofia, Schöls, Ludger, Just, Jennifer, Bauer, Peter, Torres Martin, Juan V., Kolb, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037150/
https://www.ncbi.nlm.nih.gov/pubmed/27314965
http://dx.doi.org/10.1007/s00415-016-8178-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037150/
https://www.ncbi.nlm.nih.gov/pubmed/27314965
http://dx.doi.org/10.1007/s00415-016-8178-0

Ejemplares similares