本文系统综述 Smith-Lemli-Opitz 综合征（SLOS），聚焦其作为胆固醇生物合成先天性缺陷疾病，阐述临床多系统表现、生化（7 - 脱氢胆固醇 7-DHC> 积累 / 胆固醇缺乏）及遗传（DHCR7 双等位基因变异）特征，总结诊断方法与多模式治疗探索，展望未来研究方向。

Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive, multiple malformation syndrome due to an inborn error of cholesterol synthesis. The SLOS phenotypic ...

这篇综述系统阐述了天然脂质的自由基链式氧化（即过氧化）的化学框架，重点解析了氢原子转移（HAT）和烯烃加成等关键 ...

An expert has uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome (SLOS) by modeling this disease using induced pluripotent stem cells. Studies performed by a Sanford ...

Kevin Francis, Ph.D. uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome (SLOS) by modeling this disease using induced pluripotent stem cells. Francis' study is titled ...

Kevin Francis, Ph.D. uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome (SLOS) by modeling this disease using induced pluripotent stem cells. Francis' study is titled ...

Cholesterol levels from dried plasma spots of 23 unaffected subjects and 9 Smith-Lemli-Opitz patients by APTDCI-MS/MS method and by enzymatic method were correlated (y=0.9166x + 0.3811; r= 0.8831) as ...

Published in the Jan. 19 issue of Scientific Reports, the paper describes the combination therapy that resulted in preventing the retinal degeneration that can occur in babies born with ...

* Says it is the first patent filed by the company in the area of central nervous system disease diagnosis Source text: bit.ly/1vLxmC8 Further company coverage: Sign up here. Boards, Policy ...