{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T03:54:40Z","timestamp":1793073280437,"version":"4.5.0"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2020,1,2]],"date-time":"2020-01-02T00:00:00Z","timestamp":1577923200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,7,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Morquio syndrome type A, also known as MPS IVA, is a rare autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase, a lysosomal hydrolase critical in the degradation of keratan sulfate (KS) and chondroitin sulfate (CS). The CS that accumulates in MPS IVA patients has a disease-specific nonreducing end (NRE) terminating with N-acetyl-D-galactosamine 6-sulfate, which can be specifically quantified after enzymatic depolymerization of CS polysaccharide chains. The abundance of N-acetyl-D-galactosamine 6-sulfate over other possible NRE structures is diagnostic for MPS IVA. Here, we describe an assay for the liberation and measurement of N-acetyl-D-galactosamine 6-sulfate and explore its application to MPS IVA patient samples in pilot studies examining disease detection, effects of age and treatment with enzyme-replacement therapy. This assay complements the existing urinary KS assay by quantifying CS-derived substrates, which represent a distinct biochemical aspect of MPS IVA. A more complete understanding of the disease could help to more definitively detect disease across age ranges and more completely measure the pharmacodynamic efficacy of therapies. Larger studies will be needed to clarify the potential value of this CS-derived substrate to manage disease in MPS IVA patients.<\/jats:p>","DOI":"10.1093\/glycob\/cwz109","type":"journal-article","created":{"date-parts":[[2020,1,3]],"date-time":"2020-01-03T04:48:17Z","timestamp":1578026897000},"page":"433-445","source":"Crossref","is-referenced-by-count":9,"title":["Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA"],"prefix":"10.1093","volume":"30","author":[{"given":"Roger","family":"Lawrence","sequence":"first","affiliation":[{"name":"Research, BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Prill","sequence":"first","affiliation":[{"name":"Research, BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Preejith P","family":"Vachali","sequence":"first","affiliation":[{"name":"ARUP Institute for Clinical and Experimental Pathology\u00ae, 500 Chipeta Way, Salt Lake City, UT 84108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan G","family":"Adintori","sequence":"first","affiliation":[{"name":"Research, BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greg","family":"de Hart","sequence":"first","affiliation":[{"name":"Research, BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond Y","family":"Wang","sequence":"first","affiliation":[{"name":"Division of Metabolic Disorders, Children's Hospital of Orange County, 1201 W. La Veta Ave., Orange, CA 92868, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara K","family":"Burton","sequence":"first","affiliation":[{"name":"Ann & Robert Lurie Children's Hospital, 225 E. Chicago Ave., Chicago, IL 60611, USA, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzia","family":"Pasquali","sequence":"first","affiliation":[{"name":"ARUP Institute for Clinical and Experimental Pathology\u00ae, 500 Chipeta Way, Salt Lake City, UT 84108, USA"},{"name":"University of Utah and ARUP Laboratories, Salt Lake City, UT 84108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brett E","family":"Crawford","sequence":"first","affiliation":[{"name":"Research, BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,1,2]]},"reference":[{"issue":"1","key":"2020062011532878000_ref1","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.ymgme.2010.09.003","article-title":"Efficient analysis of urinary glycosaminoglycans by LC-MS\/MS in mucopolysaccharidoses type I, II and VI","volume":"102","author":"Auray-Blais","year":"2011","journal-title":"Mol Genet Metab"},{"issue":"7\u20138","key":"2020062011532878000_ref2","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.cca.2012.01.012","article-title":"An improved method for glycosaminoglycan analysis by LC-MS\/MS of urine samples collected on filter paper","volume":"413","author":"Auray-Blais","year":"2012","journal-title":"Clin Chim Acta"},{"issue":"22","key":"2020062011532878000_ref3","doi-asserted-by":"crossref","first-page":"15892","DOI":"10.1074\/jbc.274.22.15892","article-title":"Sulfation of chondroitin sulfate in human articular cartilage. 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