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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...
Uloženo v:
| Vydáno v: | J Mov Disord |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
The Korean Movement Disorder Society
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7840231/ https://ncbi.nlm.nih.gov/pubmed/33121223 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14802/jmd.20083 |
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