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.

IF 4 2区医学 Q1 MEDICAL LABORATORY TECHNOLOGY

Annals of Laboratory Medicine Pub Date : 2024-11-07 DOI:10.3343/alm.2024.0226

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

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韩国首例利用全外显子组测序和基质辅助激光解吸电离飞行时间质谱法诊断出的 MAN1B1 先天性糖基化紊乱病例

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来源期刊

Annals of Laboratory Medicine MEDICAL LABORATORY TECHNOLOGY-

CiteScore

8.30

自引率

12.20%

发文量

100

审稿时长

6-12 weeks

期刊介绍： Annals of Laboratory Medicine is the official journal of Korean Society for Laboratory Medicine. The journal title has been recently changed from the Korean Journal of Laboratory Medicine (ISSN, 1598-6535) from the January issue of 2012. The JCR 2017 Impact factor of Ann Lab Med was 1.916.