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No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) is caused by a genetic deficiency in 7-dehydrocholesterol (7-DHC) reductase (EC 1.3.1.21), the last enzyme of the cholesterol synthetic pathway. In SLOS, plasmaExpand
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