bims-meglyc
Biomed News
on Metabolic disorders affecting glycosylation
Issue of
2024–11–10
one paper selected by
Silvia Radenkovic
,
UMC Utrecht
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.
Ann Lab Med. 2024 Nov 07.
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
.
DOI:
https://doi.org/10.3343/alm.2024.0226