Article

Gene mutations and clinical features of pediatric sitosterolemia

2023-12-23

Abstract excerpt

<title>Abstract</title><p>Objective To improve the diagnosis, treatment and follow-up of childhood sitosterolemia by analyzing the phenotypes and genotypes in Chinese pediatric patients with sitosterolemia. Methods The cohort included 26 children with sitosterolemia, 24 of whom underwent genetic testing. Their family history, clinical features, and biochemical indicators, including liver function, blood fat, routi...

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Literature Corpus work: bb9c4e02-ef58-5af0-b75b-801b66c0a3e5
DOI: 10.21203/rs.3.rs-3779831/v1

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