Irons M, Elias E R, Tint G S, Salen G, Frieden R, Buie T M, Ampola M
Department of Pediatrics, New England Medical Center, Tufts University School of Medicine, Boston, Massachusetts 02111.
Am J Med Genet. 1994 May 1;50(4):347-52. doi: 10.1002/ajmg.1320500409.
We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemical marker to help in the diagnosis of this syndrome, may provide insight into the pathogenesis of this disorder, and have therapeutic and prenatal diagnostic implications as well.
我们报告了四名患有史密斯-利姆利-奥皮茨（SLO）综合征的患者，他们似乎存在胆固醇生物合成缺陷。描述了其中一名患者接受胆固醇和胆汁酸治疗以纠正其代谢异常的初步结果。这一发现提供了一种生化标志物，有助于该综合征的诊断，可能为该疾病的发病机制提供见解，同时也具有治疗和产前诊断意义。
