The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis.
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Research Service, Department of Veterans Affairs Medical Center, East Orange, New Jersey 07019, USA.
Batta
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Xu
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Shefer
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Honda
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Irons
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Elias
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Salen
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D000818:Animals; D002775:Cholestadienols / Q000378:metabolism; D002784:Cholesterol / Q000096:biosynthesis*; D003684:Dehydrocholesterols / Q000378:metabolism; D004195:Disease Models, Animal; D004791:Enzyme Inhibitors / Q000494:pharmacology; D006801:Humans; D008099:Liver / Q000201:enzymology; D010088:Oxidoreductases / Q000037:antagonists & inhibitors / Q000172:deficiency / Q000378:metabolism; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010879:Piperazines / Q000494:pharmacology; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics / Q000378:metabolism* / Q000628:therapy
D002775:Cholestadienols; D003684:Dehydrocholesterols; D004791:Enzyme Inhibitors; D010879:Piperazines; C026359:cholesta-5,8-dien-3 beta-ol; C047457:BM 15766; D002784:Cholesterol; C016705:7-dehydrocholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase