Original languageEnglish
Article number138
JournalOrphanet journal of rare diseases
Volume16
Issue number1
DOIs
Publication statusPublished - 1 Dec 2021

    Research areas

  • Congenital disorder of glycosylation (CDG), D-galactose, Glycosylation, Nijmegen pediatric CDG rating scale (NPCRS), PMM2-CDG

ID: 17638988