The First Korean Case of -Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry.

Ann Lab Med

Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea.

Published: January 2025

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11609710	PMC
http://dx.doi.org/10.3343/alm.2024.0226	DOI Listing

Publication Analysis

korean case

case -congenital

-congenital disorder

disorder glycosylation

glycosylation diagnosed

diagnosed whole-exome

whole-exome sequencing

sequencing matrix-assisted

matrix-assisted laser

laser desorption

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