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Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of geneti...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Movement Disorder Society
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7840231/ https://www.ncbi.nlm.nih.gov/pubmed/33121223 http://dx.doi.org/10.14802/jmd.20083 |