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No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome
- J. Roullet, L. Merkens, +4 authors R. Steiner
- Biology, Medicine
- Journal of Inherited Metabolic Disease
- 6 March 2012
Smith-Lemli-Opitz syndrome (SLOS) is caused by a genetic deficiency in 7-dehydrocholesterol (7-DHC) reductase (EC 126.96.36.199), the last enzyme of the cholesterol synthetic pathway. In SLOS, plasma… Expand