Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis.

Paediatric neurodegenerative diseases are frequently caused by inborn errors in glycosphingolipid (GSL) catabolism and are collectively termed the glycosphingolipidoses. GSL catabolism occurs in the lysosome and a defect in an enzyme involved in GSL degradation leads to the lysosomal storage of its...

Полное описание

Библиографические подробности
Главные авторы: Jeyakumar, M, Butters, T, Dwek, R, Platt, F
Формат: Journal article
Язык:English
Опубликовано: 2002