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- Maple Syrup Urine Disease (MSUD)
- BCKDK
- BCKDHA : branched chain keto acid dehydrogenase E1 subunit alpha
- BCKDHB : branched chain keto acid dehydrogenase E1 subunit beta
- DBT : dihydrolipoamide branched chain transacylase E2
- AATF
- The World of Rare Diseases: Understanding the Uncommon – An Indian Perspective
- Comprehensive List of Genetic and Rare Diseases