Article
Genetic diseases of sphingolipid metabolism: Pathological mechanisms and therapeutic options
1 Sept 2006
Abstract excerpt
Although diseases in the pathway of sphingolipid degradation have been known for decades, the first disease in the biosynthetic pathway was only reported in 2004, when a form of infantile-onset symptomatic epilepsy was described as a genetic defect in GM3 synthase. Presumably other diseases in the sphingolipid biosynthetic pathway will yet be discovered, although many may remain undetected due to their putative...
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