Lysosomal Storage Disease

We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia. On fundus examination cherry red spots were noted at macula....

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Bibliographic Details
Main Authors: Binod Khatiwada, A Pokharel
Format: Article
Language:English
Published: Nepal Medical Association 2009-07-01
Series:Journal of Nepal Medical Association
Online Access:http://jnma.com.np/jnma/index.php/jnma/article/view/193