KUMEL Repository
1. Journal Papers (연구논문)
1. School of Medicine (의과대학)
Dept. of Laboratory Medicine (진단검사의학)
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
- Keimyung Author(s)
- Kim, Kyoung Bo; Shin, So Young; Park, Sung Gyun; Kim, Do Hoon; Ryoo, Nam Hee; Lee, So Young; Ha, Jung Sook
- Department
- Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
Dept. of Rehabilitation Medicine (재활의학)
- Journal Title
- Ann Lab Med
- Issued Date
- 2025
- Volume
- 45
- Issue
- 1
- Publisher
- School of Medicine (의과대학)
- Type
- Article
- ISSN
- 2234-3814
- Source
- https://www.annlabmed.org/journal/view.html?doi=10.3343/alm.2024.0226
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