id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_iggsxaffnjgghngavjb2jk6djy	Hyung-Doo Park	Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene	2011	7	.pdf	application/pdf	3912	357	66	Three Korean Patients with Maple Syrup Urine Disease: Four Novel Mutations in the BCKDHA Gene Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branchedchain amino acid (BCAA) metabolism caused by dysfunction of the multienzyme branched-chain reported in the Korean population, the genetic background of MSUD is not well understood. For one patient with complex deletion/duplication mutations, we also Amino acid analysis showed elevated levels of all branched chain amino acids (BCAAs) in all patients. These patients had no mutations in either the BCKDHB or the DBT gene. Keywords: MSUD, BCKDHA, novel mutation, Korean Plasma and urine amino acid analyses in patients with MSUD. Sequence analysis of the BCKDHA gene in Korean Mutation in the BCKDHA exon 9 in MSUD patient 3. BCKDHA mutations in Korean patients with MSUD 173 BCKDHA mutations in Korean patients with MSUD 173 BCKDHA mutations in Korean patients with MSUD 173 BCKDHA mutations in Korean patients with MSUD 173	./cache/work_iggsxaffnjgghngavjb2jk6djy.pdf	./txt/work_iggsxaffnjgghngavjb2jk6djy.txt