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Research progress of phytosterolemia and its laboratory diagnosis / 中华检验医学杂志
Article em Zh | WPRIM | ID: wpr-912521
Biblioteca responsável: WPRO
ABSTRACT
Phytosterolemia is a rare, severe autosomal recessive sterol storage disorder caused by homozygous or compound heterozygous mutations in one of the ABCG5 and/or ABCG8 adenosine triphosphate binding cassette (ABC) genes. The most prominent features of phytosterolemia are the significantly increased serum content of plant sterols. Present review focused on the laboratory diagnosis of phytosterolemia, briefly described the metabolism of phytosterols, and introduced the latest research progress on phytosterolemia diagnosis, its relationship with ASCVD and laboratory diagnostic methods (including the detection of serum concentrations of phytosterols, ABCG5/G8 gene mutation). We hope this article could improve readers′ awareness and attention on this disease.
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Texto completo: 1 Base de dados: WPRIM Tipo de estudo: Diagnostic_studies Idioma: Zh Revista: Chinese Journal of Laboratory Medicine Ano de publicação: 2021 Tipo de documento: Article
Texto completo: 1 Base de dados: WPRIM Tipo de estudo: Diagnostic_studies Idioma: Zh Revista: Chinese Journal of Laboratory Medicine Ano de publicação: 2021 Tipo de documento: Article