Lyso GL-3Gaucher diseaseFabry diseaseLysosomal storage disorders (LSDs) remain a significant cause of morbidity in the Indian population and treatment is largely out of reach for most patients. Although data on enzymatic and molecular diagnosis of Gaucher disease (GD) and Fabry disease (FD) in ...
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Of the twenty patients, eight had elevated plasma lyso-Gl-3 levels (>2.7 ng/mL). Seven out of eight patients had classical Fabry disease symptoms and were recommended to start enzyme replacement therapy prior to plasma lyso-Gl3 levels being resulted. Five out of eight patients had end organ...
Screening Fabry Disease in Women Combining Enzyme Activity with Lyso-GL3: Results of a Brazilian Studydoi:10.1681/ASN.20233411S1639bCassiano Augusto SilvaUniversidade Estadual Paulista Julio de Mesquita Filho, Botucatu, Brazil;Fellype BarretoUniversidade Federal do Parana, Curitiba, Brazil;Osvaldo M. ...
Dose-dependent response in Fabry treatment: decrement in plasma lyso-Gl3 after switching from alfa to betaFabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of glycolipids in a variety of cell types, including neural cells. Small, unmyelinated nerve ...