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Case report: maple syrup urine disease with a novel DBT gene mutation
BACKGROUND: Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in four genes (BCKDHA, BCKDHB, DLD and DBT) are associated with MSUD. Here, the presenting symptoms...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6909553/ https://www.ncbi.nlm.nih.gov/pubmed/31830945 http://dx.doi.org/10.1186/s12887-019-1880-1 |