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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Riyadh : Armed Forces Hospital
2018
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| Materias: | |
| 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 |