Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.

V RickertL WagenhäuserP NordbeckC WannerC SommerS RostNurcan Üçeyler

Published in: Journal of internal medicine (2020)

The type of amino acid exchange location in the α-GalA 3D-structure determines disease severity and temporal course of symptom onset. Patient stratification using this parameter may become a useful tool in the management of FD patients.

Keyphrases

clinical practice
end stage renal disease
amino acid
ejection fraction
newly diagnosed
chronic kidney disease
case report
heart failure
replacement therapy
atrial fibrillation