Sialidosis type I presenting with a novel mutation and advanced neuroimaging features

Sialidosis is a rare lysosomal storage disease caused by neuraminidase gene (NEU1) mutation and a deficiency of the enzyme neuraminidase. The aim of this study was to examine the sialidosis type 1 brain using volumetric magnetic resonance imaging (MRI), diffusion tensor imaging and functional MRI in...

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Detalles Bibliográficos
Autores principales: Gultekin, Murat, Bayramov, Ruslan, Karaca, Cagatay, Acer, Niyazi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751914/
https://www.ncbi.nlm.nih.gov/pubmed/29455223
http://dx.doi.org/10.17712/nsj.2018.1.20170328

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751914/
https://www.ncbi.nlm.nih.gov/pubmed/29455223
http://dx.doi.org/10.17712/nsj.2018.1.20170328

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