Detection of GM1‐gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry

GM1-gangliosidosis is a rare autosomal recessive lysosomal storage disease caused by deficiency of β-galactosidase (GLB1). Newborn screening (NBS) may be warranted in the near future given the initiation of a number of gene therapy clinical trials. Here, we report a tandem mass spectrometry (MS/MS) ... View More