期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
卷 160C, 期 4, 页码 285-294出版社
WILEY
DOI: 10.1002/ajmg.c.31347
关键词
Smith-Lemli-Opitz syndrome; sterol disorders; cholesterol supplementation; simvastatin; behavior
资金
- NIH Rare Diseases Clinical Research Network (RDCRN) via the Sterol and Isoprenoid Research (STAIR) consortium
- HHS [U54 HD 061939, R01 HL 073980]
- [HHS U54 HD061939]
- [HHS R01 HL 073980]
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies, and surgical interventions, as well as directions for future therapies and treatment research. (C) 2012 Wiley Periodicals, Inc.
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