Journal of Inherited Metabolic Disease

, 34:849

First online:

Open Access This content is freely available online to anyone, anywhere at any time.

How to find and diagnose a CDG due to defective N-glycosylation

  • Dirk J. LefeberAffiliated withDepartment of Neurology, Laboratory for Genetic, Endocrine and Metabolic DiseaseInstitute for Genetic and Metabolic Disease Email author 
  • , Eva MoravaAffiliated withInstitute for Genetic and Metabolic DiseaseDepartment of Pediatrics, Radboud University Nijmegen Medical Centre
  • , Jaak JaekenAffiliated withUniversitair Ziekenhuis Gasthuisberg