Identification of gene mutations in six Chinese patients with maple syrup urine disease

Identification of gene mutations in six Chinese patients with maple syrup urine disease

Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of high-throughput sequencing technology in the early diagnosis of MUSD.Methods:...

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Bibliographic Details
Main Authors: Lulu Li, Xinmei Mao, Nan Yang, Taoyun Ji, Shunan Wang, Yulan Ma, Haihe Yang, Yuting Sang, Jinqi Zhao, Lifei Gong, Yue Tang, Yuanyuan Kong
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Genetics
Subjects:
maple syrup urine disease
high-throughput sequencing
gene mutation
neonatal screening
metabolic disorders
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1132364/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1132364/full

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