Cargando…
Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder
Niemann-Pick type C is an uncommon neurodegenerative lysosomal storage disorder that can cause a progressive neuropsychiatric syndrome associated with supranuclear vertical gaze palsy and a movement disorder. There have been recent developments in testing that make diagnosis easier and new therapies...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839726/ https://www.ncbi.nlm.nih.gov/pubmed/31243140 http://dx.doi.org/10.1136/practneurol-2019-002236 |