id	author	title	date	pages	extension	mime	words	sentence	flesch	summary	cache	txt
bam-9796	Tavian, Daniela; Durdu, Murat; Angelini, Corrado; Torre, Enza; Missaglia, Sara	Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome	2021	7	.pdf	application/pdf	3864	253	53	Our data enlarge the cohort of CDS patients and provide a revision of muscle clinical findings for this rare inborn error of neutral lipid metabolism. Indeed, thanks to NMD the cells survey mRNA quality and are able to eliminate those mRNAs carrying premature termination triplets, preventing the synthesis of truncated proteins.23 In CDS patients the lack of ABHD5 protein determines a lower efficiency of ATGL activity.	cache/bam-9796.pdf	txt/bam-9796.txt