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:10.3343/alm.2024.0226

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 + Show 10 more

https://doi.org/10.3343/alm.2024.0226

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Journal: Annals of laboratory medicine	Publication Date: Nov 7, 2024
License type: CC BY-NC 4.0

#Matrix-Assisted Laser Desorption #Whole-Exome Sequencing #Mass Spectrometry #Disorder Of Glycosylation #Korean Case #Laser Desorption #Matrix-Assisted Laser

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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.

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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.