Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.

Sabrina MalvagiaLorenzo FerriMaria Della BonaWalter BorsiniCalogero Lino CiramiEgrina DervishiSandro FeriozziSerena GasperiniSerena MottaRenzo MignaniBarbara TrezziFederico PieruzziAmelia MorroneMarta DaniottiMaria Alice DonatiGiancarlo la Marca

Published in: Clinical chemistry and laboratory medicine (2021)

The method proved to be efficient for the rapid analysis of LysoGb3. DBS provides a convenient, sensitive, and reproducible method for measuring LysoGb3 levels for diagnosis, initial phenotypic assignment, and therapeutic monitoring in patients with FD.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
heart failure
replacement therapy
patient reported outcomes
atrial fibrillation
hypertrophic cardiomyopathy
patient reported