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Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid dehydrogenase (BCKDH) complex, respectively. Thi...
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| Publicado en: | Mol Genet Metab Rep |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Elsevier
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6140420/ https://ncbi.nlm.nih.gov/pubmed/30228974 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.08.006 |
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