id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_wttvmx4a7vf2vh5ef4zyxupg6y	Lisa Edelmann	Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population	2001	6	.pdf	application/pdf	3756	334	59	Maple Syrup Urine Disease: Identification and Carrier-Frequency Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. R183P, the mutation present in six of seven patients, revealed that the carrier frequency of the mutant allele was ∼1/113; the patient not carrying R183P had a previously described homozygous mutation in the gene encoding maple syrup urine disease (MSUD) (types Ia [MIM an inborn error of metabolism, resulting from the defective activity of branched-chain a-ketoacid dehydrogenase (BCKAD) (Chuang and Shih 2000). Figure 2 Results of mutation analysis of AJ patients with MSUD. a-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. (2001) Biochemical basis of type 1B (E1b) mutations in maple syrup urine disease: a prevalent allele in patients from Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population	./cache/work_wttvmx4a7vf2vh5ef4zyxupg6y.pdf	./txt/work_wttvmx4a7vf2vh5ef4zyxupg6y.txt