Article
The genetics of sphingolipid hydrolases and sphingolipid storage diseases.
Handbook of experimental pharmacology - 1 Jan 2013
Schuchman Edward H, Simonaro Calogera M
Abstract excerpt
The relationship of sphingolipids with human disease first arose from the study of sphingolipid storage diseases over 50 years ago. Most of these disorders are due to inherited deficiencies of specific sphingolipid hydrolases, although a small number also result from defects in sphingolipid transport or activator proteins. Due to the primary protein deficiencies sphingolipids and other macromolecules accumulate...
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