The Metabolic Disease Laboratory provides services for the diagnosis of lysosomal storage diseases. The laboratory provides screening of urine for glycosaminoglycans, oligosaccharides, sialic acid, ...

In a previous study, the NUS Medicine team has shown that if Spns1 does not work properly, it leads to a buildup of lipid waste inside cells, causing diseases known as lysosomal storage diseases ...

For Zevra Therapeutics, last year’s approval of the rare lysosomal storage disorder drug Miplyffa appears to be the gift that keeps on giving. After receiving a rare pediatric disease priority ...