Homo sapiens Genome sequencing and assembly. Homo sapiens
收藏NIAID Data Ecosystem2026-03-13 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA838408
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资源简介：
Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom are frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition of STSL.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical diagnosis.Methods: We summarized the clinical characteristics of STSL patients, and investigated the different indicators between the STSL and FH groups, as well as their diagnostic values for STSL.
创建时间：
2022-05-16
