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Pediatric Research|January 9, 2004
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVAShunji Tomatsu, Kazuo Okamura, Takeshi Taketani, et al.Orphanet Journal of Rare Diseases|November 9, 2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseMaurizio Scarpa, Zsuzsanna Almássy, Michael Beck, et al.Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, et al.Journal of Medical Genetics|February 25, 2016
Clinical course of sly syndrome (mucopolysaccharidosis type VII)Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, et al.The Journal of Clinical Investigation|February 4, 2014
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarkerDanielle te Vruchte, Anneliese O Speak, Kerri L Wallom, et al.Pageof 31