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。

Screening test provides prenatal risk assessment for common genetic conditions in one blood draw without the need for paternal testing Early access via large-scale clinical study to establish the vali ...

未来的研究还应尝试在胆固醇和他汀类药物治疗的剂量、配方和持续时间上达成一致。 Smith-Lemli-Opitz综合征（Smith-Lemli-Opitz syndrome, SLOS）是一种由胆固醇生物合成缺陷引起的多发性先天畸形综合征。临床表现为胆固醇缺乏和各种前体分子累积，主要是7-脱氢胆固 ...

This was proposed by Konrad Bloch (the Bloch hypothesis). The Bloch hypothesis assumes relevance in disorders in which a small change in cholesterol structure leads to lethal phenotypes such as the ...

Future studies should also attempt to use consistent dosages, formulations and durations of cholesterol and statin therapy. Read the full abstract... Background: Smith-Lemli-Opitz syndrome (SLOS) is a ...

This is an important paper that provides a conceptual framework for understanding how altered lipid metabolism can impact brain development. The authors use mouse models and human iPSCs to provide a ...