Carregant...
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...
Guardat en:
| Publicat a: | BMC Pediatr |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2019
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6909553/ https://ncbi.nlm.nih.gov/pubmed/31830945 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1880-1 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|