The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-exome Sequencing and Matrix-assisted Laser Desorption Ionization Time-of-flight Mass Spectrometry

Publications / The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-exome Sequencing and Matrix-assisted Laser Desorption Ionization Time-of-flight Mass Spectrometry