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...

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Detalles Bibliográficos
Autores principales: Neeraja, Koti, Holla, Vikram Venkappayya, Prasad, Shweta, Surisetti, Bharath Kumar, Rakesh, Kempaiah, Kamble, Nitish, Yadav, Ravi, Pal, Pramod Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2021
Materias:
Case Report
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

Internet

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

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