Successful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12604
Abstract: Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched-chain 2-ketoacid dehydrogenase (BCKD) enzyme complex leading to massive accumulation of branched-chain amino and 2-keto acids. MSUD… read more here.
Keywords: msud; gene therapy; mice; gene ... See more keywords