Two novel mutations in the BCKDHB gene that cause maple syrup urine disease

• 主要な著者: Bingjuan Han (著者), Bingchao Han (著者), Bin Guo (著者), Yingxia Liu (著者), Zhiyang Cao (著者)
• フォーマット: 図書
• 出版事項: Elsevier, 2018-10-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are associated with MSUD. Here, we describe the p...