1.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

Kyoung Bo KIM ; Gi Su LEE ; Soyoung SHIN ; Dong-Chan KIM ; Donggun SEO ; Hyeongjin KWEON ; Hyein KANG ; Sunggyun PARK ; Do-Hoon KIM ; Namhee RYOO ; Soyoung LEE ; Jung Sook HA

Annals of Laboratory Medicine 2025;45(1):112-115