Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease.

Sandhoff disease is a severe neurodegenerative glycosphingolipid (GSL) lysosomal storage disorder, currently without treatment options. One therapeutic approach under investigation is substrate reduction therapy (SRT). By partially inhibiting GSL biosynthesis, the impaired rate of GSL catabolism is...

詳細記述

書誌詳細
主要な著者: Andersson, U, Smith, D, Jeyakumar, M, Butters, T, Borja, M, Dwek, R, Platt, F
フォーマット: Journal article
言語:English
出版事項: 2004