N-glycome analysis in Congenital Disorders of Glycosylation

The Congenital Disorders of Glycosylation are a rapidly growing group of IMDs but can present a number of diagnostic challenges. In this podcast, Dr Julien Park, Dr Robert Mealer, and Professor Thorsten Marquardt discuss an additional technique for assessing glycosylation and its role in the diagnosis and management of SLCC39A-CDG. N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency Julien H. Park et al. https://doi.org/10.1002/jimd.12306