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Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.

World journal of pediatrics : WJP - 1 Aug 2020

Sun Wei-Hua, Wu Bing-Bing, Wang Ya-Qiong, Wu Meng-Yuan, Dong Xin-Ran, Zhang Yue-Ping, Lu Wei, Zhang Ping, Yang Bin, Zhang Min, Wu Hong-Jiang, Zhou Wen-Hao

Abstract excerpt

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects the degradation of branched-chain amino acids and is associated with acute and chronic brain dysfunction. This study presents 11 new patients with MSUD and describes the clinical characteristics and gene mutations reported in Chinese individuals. METHODS: During 2011-2018, 11 pedaitric patients with MSUD from 11...

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PMID: 32193832
DOI: 10.1007/s12519-020-00349-1

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