Novel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report

BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder, typically caused by biallelic pathogenic variants in the lipoprotein lipase (LPL) gene. Lipoprotein lipase, encoded by the LPL gene, catalyzes the hydrolysis of triglycerides, and its deficiency or dysfunctio...

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Detalles Bibliográficos
Autores principales: Shi, Huiping, Wang, Zhaoyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636460/
https://www.ncbi.nlm.nih.gov/pubmed/36345447
http://dx.doi.org/10.21037/tp-22-15

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636460/
https://www.ncbi.nlm.nih.gov/pubmed/36345447
http://dx.doi.org/10.21037/tp-22-15

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