id	author	title	date	pages	extension	mime	words	sentence	flesch	summary	cache	txt
jnps-41954	Indika, Neluwa-Liyanage; Indika, Ruwan; Rolfs, Arndt; Beetz, Christian; Schröder, Sabine; Pereira, Catarina; Volha, Volha; Fernando, Mihika; Vidanapathirana, Dinesha Maduri; Jayasena, Subhashinie; Jasinge, Eresha	Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA	2022-12-31	3	.pdf	application/pdf	2160	134	51	Pathogenic variants in GALNS gene were detected in all five cases resulting in a diagnosis of MPS IVA. N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) enzyme encoded by GALNS gene removes 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.	cache/jnps-41954.pdf	txt/jnps-41954.txt
