Different Gene Preferences of Maple Syrup Urine Disease in the Aboriginal Tribes of Taiwan
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in any one of the three different genes encoding for the BCKD components, namely, BCKDHA, BCKDHB, and DBT, may be responsible for this...
Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2014-06-01
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Series: | Pediatrics and Neonatology |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957213001861 |