Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease
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DOI: 10.1002/mgg3.1337
Abstract: Abstract Background Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease‐causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the… read more here.
Keywords: maple sirup; urine disease; dbt genes; bckdhb dbt ... See more keywords