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Metabolomic Approach to Screening Homozygotes in Chinese Patients with Severe Familial Hypercholesterolemia

Homozygous familial hypercholesterolemia (HoFH) is a rare inborn-errors-of-metabolism disorder characterized by devastatingly elevated low-density lipoprotein cholesterol (LDL-C) and premature cardiovascular disease. The gold standard for screening and diagnosing HoFH is genetic testing. In China, i...

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Detalles Bibliográficos
Autores principales: Du, Zhiyong, Du, Yunhui, Li, Linyi, Sun, Haili, Hu, Chaowei, Jiang, Long, Wang, Luya, Qin, Yanwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9861332/
https://www.ncbi.nlm.nih.gov/pubmed/36675412
http://dx.doi.org/10.3390/jcm12020483