krabbe disease

ceramides

Electrochemical Immunosensor Aids in Early Diagnosis of Pompe Disease

An electrochemical immunosensor designed for the simultaneous detection and quantification of acid α-glucosidase (GAA), β-glucocerebrosidase (GBA), and galactocerebrosidase (GALC) has been developed for early testing of lysosomal storage diseases (LSDs) including Pompe, Gaucher, and Krabbe diseases, respectively, as published in Scientific Reports. The device was able to detect the molecules down to the femtomolar level…

test tube

Researchers Establish Cutoff Values in Newborn Screening for Pompe Disease

Researchers established cutoff values for newborn screening of 6 lysosomal storage disorders (LSDs), including Pompe disease (PD), and published their results in Frontiers in Pediatrics. Tandem mass spectrometry resulted as an appropriate method to screen for LSDs, detecting that PD had the highest initial screening positive rate among the other diseases. Li and colleagues obtained…

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