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"3beta-Hydroxysterol"
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- ... signs and symptoms of the condition. Deficiency of 3beta-hydroxysterol delta24-reductase Genetic Testing Registry: Desmosterolosis Desmosterolosis National ...
- ... on PubMed Central Correa-Cerro LS, Porter FD. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. ...
- ... DR, Kelley RI, Wanders RJ. Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive ...