Lyso GL-1Lyso 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 ...
Evaluation of disease burden and therapy modifications using glucosylsphingosine (lyso-GL1) in Gaucher diseasedoi:10.1016/j.ymgme.2018.12.097Julia DaoOzlem Goker-AlpanRenuka LimgalaElsevier BVMolecular Genetics and Metabolism
PF428 GLUCOSYLSPHINGOSINE (LYSO-GL-1), A BIOMARKER OF GAUCHER DISEASE, CORRELATES WITH DISEASE SEVERITY AND RESPONSE TO ELIGLUSTAT IN 2 CLINICAL TRIALS OF TREATMENT-NAVE ADULTS WITH GAUCHER DISEASE TYPE 1doi:10.1097/01.HS9.0000559924.19634.a3Peterschmitt, M.J....
The first method described measures glucosylsphingosine (lyso-GL1) and galactosylsphingosine (psychosine), biomarkers that accumulate in Gaucher and Krabbe diseases, respectively. The second method measures globotriaosylsphingosine (lyso-Gb3) and sphingosylphosphorylcholine (lyso-SPM), biomarkers for ...