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

Affiliations

• ¹ Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.
• ² Department of Gynecology, Keimyung University School of Medicine, Daegu, Korea.
• ³ Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea.
• ⁴ R&D Center, NQ-Lab, Yongin, Korea.
• ⁵ Department of Rehabilitation Medicine, Keimyung University School of Medicine, Daegu, Korea.