Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time course of symptoms, and the clinical diagnostic work-up in the Swiss NP-C cohort. ME...

Descripción completa

Detalles Bibliográficos
Autores principales: Abela, Lucia, Plecko, Barbara, Palla, Antonella, Burda, Patricie, Nuoffer, Jean-Marc, Ballhausen, Diana, Rohrbach, Marianne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253629/
https://www.ncbi.nlm.nih.gov/pubmed/25425405
http://dx.doi.org/10.1186/s13023-014-0176-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253629/
https://www.ncbi.nlm.nih.gov/pubmed/25425405
http://dx.doi.org/10.1186/s13023-014-0176-7

Ejemplares similares