Cargando…

A 13-year follow-up of Finnish patients with Salla disease

BACKGROUND: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients i...

Descripción completa

Detalles Bibliográficos
Autores principales: Paavola, Liisa E., Remes, Anne M., Harila, Marika J., Varho, Tarja T., Korhonen, Tapio T., Majamaa, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499899/
https://www.ncbi.nlm.nih.gov/pubmed/26171070
http://dx.doi.org/10.1186/s11689-015-9116-7