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Disorders of cholesterol biosynthesis.

作者信息

Clayton P T

机构信息

Biochemistry Unit, Great Ormond Street Hospital for Children, London.

出版信息

Arch Dis Child. 1998 Feb;78(2):185-9. doi: 10.1136/adc.78.2.185.

Abstract
摘要

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本文引用的文献

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Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria.
J Inherit Metab Dis. 1997 Jul;20(3):391-4. doi: 10.1023/a:1005394315300.
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New treatment strategy for Smith-Lemli-Opitz syndrome.
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Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome.
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Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels.
Am J Med Genet. 1997 Jan 31;68(3):294-9. doi: 10.1002/(sici)1096-8628(19970131)68:3<294::aid-ajmg9>3.0.co;2-m.
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Cardiovascular malformations in Smith-Lemli-Opitz syndrome.
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