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目的:Smith-Lemli-Opitz综合征(SLOS)可导致多种畸形、发育缺陷和智力障碍。近几年一直用胆固醇补充疗法来治疗SLOS的症状。对SLOS患儿和青少年患者进行了为期6年的随访,来评估其发育进展情况。试验设计:接受了连续的胆固醇补充治疗的14例SLOS患儿被作为纵向研究的一部分。每隔6-12个月,评估其
Purpose: Smith-Lemli-Opitz syndrome (SLOS) can lead to multiple deformities, developmental deficits and mental retardation. In recent years, cholesterol replacement therapy has been used to treat the symptoms of SLOS. A 6-year follow-up of children and adolescents with SLOS was performed to assess their progress. Trial Design: 14 children with SLOS who received continuous cholesterol supplementation were included as part of a longitudinal study. Evaluate every 6-12 months