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...
Main Authors: | Koti Neeraja, Vikram Venkappayya Holla, Shweta Prasad, Bharath Kumar Surisetti, Kempaiah Rakesh, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal |
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Format: | Article |
Language: | English |
Published: |
Korean Movement Disorders Society
2021-01-01
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Series: | Journal of Movement Disorders |
Subjects: | |
Online Access: | http://www.e-jmd.org/upload/jmd-20083.pdf |
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