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Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation

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: To present the clinical and laboratory ch...

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Detalles Bibliográficos
Autores principales: Zhang, Jun, Chen, Qiu-li, Guo, Song, Li, Yan-hong, Li, Chuan, Zheng, Ru-jiang, Luo, Xue-qun, Ma, Hua-mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563796/
https://www.ncbi.nlm.nih.gov/pubmed/36229885
http://dx.doi.org/10.1186/s12944-022-01710-1