id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_23ab2zlncvf27l3bmjeggwpdkq	Mary M. Nellis	Gene Preference in Maple Syrup Urine Disease	2001	6	.pdf	application/pdf	3794	388	68	Untreated maple syrup urine disease (MSUD) results in mental and physical disabilities and often leads to neonatal individuals with clinically diagnosed MSUD were tested by retroviral complementation of branched-chain a-ketoacid dehydrogenase activity to identify the gene locus for mutant alleles. ambiguous results by showing no complementation or restoration of activity with two gene products. The inability to catabolize the BCAA results from defective function of the branched chain a-ketoacid dehydrogenase (BCKD) complex. BCKD Activity in Lymphoblast Lines with Defined Genotypes, from Patients with MSUD Finding a simple, reliable method to identify the specific mutant gene that causes MSUD from the three possible choices has presented a challenge. lines, the proteins of the complex are antigenically indistinguishable from those seen in cells with normal activity. Distribution of MSUD Cell Lines, Based on Mutant Gene and As more of the cell lines with mutations in this gene are defined, it will become possible	./cache/work_23ab2zlncvf27l3bmjeggwpdkq.pdf	./txt/work_23ab2zlncvf27l3bmjeggwpdkq.txt