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。

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 ...

Thurm A, Tierney E, Farmer C, Albert P, Joseph L, Swedo S, Bianconi S, Bukelis I, Wheeler C, Sarphare G, Lanham D, Wassif CA, Porter FD. Development, Behavior, and ...

Fliesler continues to investigate retinal diseases and degeneration linked to cholesterol processing, such as Smith-Lemli-Opitz syndrome (SLOS), a birth defect resulting in dysmorphic and cognitive ...

The children also failed to meet the criteria for a rare genetic condition called Smith-Lemli-Opitz, which hampers brain development in fetuses by disrupting cholesterol production in fetuses.

The defects were similar to those seen in a genetic condition called Smith-Lemli-Opitz, though no genetic cause was found. The powerful opioid painkiller was the suspected cause of 70,601 overdose ...

The hypothesis is that prenatal fentanyl exposure possibly interferes with cholesterol metabolism, leading to findings resembling Smith-Lemli-Opitz syndrome (SLOS) in 10 infants. However ...