Advances in diagnosis and treatment of familial hypercholesterolemia / 南方医科大学学报
Journal of Southern Medical University
;
(12): 153-156, 2023.
Artigo
em Chinês
| WPRIM
| ID: wpr-971509
ABSTRACT
Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by abnormal lipoprotein metabolism. Patients with FH have a significantly increased risk of coronary artery disease (CAD) due to long-term exposure to high levels of low-density lipoprotein (LDL). The diagnosis of FH relies heavily on gene detection, and examination of LDL receptor (LDLR) function is of great significance in its treatment. This review summarizes the current advances in the screening, diagnosis, and treatment of FH and functional analysis of LDLR gene mutations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doença da Artéria Coronariana
/
Hiperlipoproteinemia Tipo II
/
Lipoproteínas LDL
/
Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Journal of Southern Medical University
Ano de publicação:
2023
Tipo de documento:
Artigo
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