The Lipoprotein Profile Evaluated by 1H-NMR Improves the Performance of Genetic Testing in Familial Hypercholesterolemia.

Daiana IbarretxeDídac LlopCèlia Rodríguez-BorjabadNatalia AndreychukNúria PlanaRoberto ScicaliAna González-LleóNúria AmigóJosefa GironaLluís Masana

Published in: The Journal of clinical endocrinology and metabolism (2024)

NMR lipoprotein profile analysis identifies differences beyond standard lipid parameters that help identify FH with a positive pathogenic gene variant, increasing the yield of genetic testing in FH patients.

Keyphrases

end stage renal disease
magnetic resonance
high resolution
genome wide
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
solid state
gene expression
copy number
fatty acid
patient reported outcomes
patient reported
genome wide identification