Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference24 articles.
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3. Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression;Pattison;Hum. Mutat.,2004
4. Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex;Lukong;Hum. Mol. Genet.,2000
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