A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-1331.2009.02622.x/fullpdf
Reference34 articles.
1. Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex;Lukong;J Biol Chem,2001
2. The cherry-red spot-myoclonus syndrome;Rapin;Ann Neurol,1978
3. Sialidase (alpha-N-acetylneuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spot-myoclonus without dementia;Thomas;Clin Genet,1978
4. Sialidosis: a review of human neuraminidase deficiency;Lowden;Am J Hum Genet,1979
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