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

{"title":"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","authors":"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","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":""},"PeriodicalIF":4.0000,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The First Korean Case of <i>MAN1B1</i>-Congenital Disorder of Glycosylation Diagnosed Using Whole-exome Sequencing and Matrix-assisted Laser Desorption Ionization Time-of-flight Mass Spectrometry.\",\"authors\":\"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\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":8421,\"journal\":{\"name\":\"Annals of Laboratory Medicine\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":4.0000,\"publicationDate\":\"2024-11-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Laboratory Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3343/alm.2024.0226\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Laboratory Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3343/alm.2024.0226","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}