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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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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 |