Author:
Ma Shujun,Zhang Zhongxin,Fu Yanyan,Zhang Mingxia,Niu Yuna,Li Ruiguang,Guo Qinghe,He Zhian,Zhao Qingwei,Song Zhishan,Wang Xia,Sun Ruili
Funder
Education Department of Henan Province
Ministry of Education of the People's Republic of China
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference35 articles.
1. Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression;Nellis;Mol. Genet. Metab.,2003
2. Gene preference in maple syrup urine disease;Nellis;Am. J. Hum. Genet.,2001
3. Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease;Ae;Structure (London, England,1993
4. 4,5-Dimethyl-3-hydroxy-2[5H]-furanone (sotolone) — The odour of maple syrup urine disease;Podebrad;J. Inherit. Metab. Dis.,1999
5. A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD);Miryounesi;Journal of pediatric endocrinology & metabolism : JPEM,2015