maple syrup urine disease type 1B (Q56014604)
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maple syrup urine disease caused by mutations in BCKDHB
- MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex
- MSUD type 3 (formerly)
- MSUD type IB
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | maple syrup urine disease type 1B |
maple syrup urine disease caused by mutations in BCKDHB |
|
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Identifiers
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1 reference