Substrate reduction therapy
The glycosphingolipidoses are a family of storage diseases that arise due to incomplete catabolism of glycosphingolipids (GSLs) in the lysosome (Wraith, 2002). The majority are autosomal recessive disorders and result from mutations in the genes that encode the catabolic enzymes of the lysosome (Win...
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| フォーマット: | Book section |
| 出版事項: |
Springer US
2007
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