Hexosaminidase A deficiency as a differential of amyotrophic lateral sclerosis
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-1331.2008.02169.x/fullpdf
Reference8 articles.
1. Late onset hexosaminidase A deficiency in a young adult;Peters;European Journal of Neurology,2008
2. High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones;Tropak;Chemistry & Biology,2007
3. Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis;Lemieux;Journal of Molecular Biology,2006
4. Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings;Hund;Journal of the Neurological Sciences,1997
5. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients;Neudorfer;Genetics in Medicine,2005
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