{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T16:52:54Z","timestamp":1792515174884,"version":"4.5.0"},"reference-count":27,"publisher":"Scientific Scholar","issue":"04","license":[{"start":{"date-parts":[[2020,12,30]],"date-time":"2020-12-30T00:00:00Z","timestamp":1609286400000},"content-version":"vor","delay-in-days":29,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Lab Physicians"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Morquio syndrome is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, which is required for the catabolism of glycosaminoglycans (namely, chondroitin-6-sulfate and keratan sulfate). Pathogenic accumulation of these glycosaminoglycans occurs throughout the body. The various organs and tissues affected are bones, cartilage, tendon, teeth, trachea and lungs, heart, cornea, skin and connective tissues.<\/jats:p><jats:p>Here, we present a case of Morquio syndrome. A 16-year-old boy presented with multiple skeletal abnormalities, including cervicomedullary compression by dorsal dural band in foramen magnum. The dural band was resected during the surgery to relieve compression and sent for histopathological examination. This case report not only reviews the clinical features and shows rare dural band histopathological findings but also mentions a note on the future therapies of this syndrome.<\/jats:p>","DOI":"10.1055\/s-0040-1722548","type":"journal-article","created":{"date-parts":[[2020,12,30]],"date-time":"2020-12-30T23:37:32Z","timestamp":1609371452000},"page":"285-288","source":"Crossref","is-referenced-by-count":3,"title":["Morquio Syndrome Presenting with Dural Band Pathology: A Case Report"],"prefix":"10.25259","volume":"12","author":[{"given":"Saloni","family":"Gupta","sequence":"additional","affiliation":[{"name":"Departments of Lab Medicine, Jai Prakash Narayan Apex Trauma Center, AIIMS, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kangana","family":"Sengar","sequence":"additional","affiliation":[{"name":"Departments of Lab Medicine, Jai Prakash Narayan Apex Trauma Center, AIIMS, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7797-6683","authenticated-orcid":false,"given":"Arulselvi","family":"Subramanian","sequence":"additional","affiliation":[{"name":"Departments of Lab Medicine, Jai Prakash Narayan Apex Trauma Center, AIIMS, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gurudatta","family":"Satyarthee","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery, Jai Prakash Narayan Apex Trauma Center, AIIMS, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","published-online":{"date-parts":[[2020,12,30]]},"reference":[{"key":"ref1","first-page":"3421","volume-title":"The mucopolysaccharidoses","author":"E F Neufeld","year":"2001","edition":"8th ed"},{"issue":"24","key":"ref2","doi-asserted-by":"crossref","first-page":"3349","DOI":"10.1093\/hmg\/ddg366","article-title":"Mouse model of 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Couprie","year":"2010","journal-title":"J Fr Ophtalmol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ymgme.2018.05.004","article-title":"Molecular genetics and metabolism, special edition: diagnosis and prognosis of mucopolysaccharidosis IVA","volume":"125","author":"H Peracha","year":"2018","journal-title":"Mol Genet Metab"},{"issue":"06","key":"ref13","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1007\/s10545-011-9359-8","article-title":"Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management","volume":"34","author":"E A Braunlin","year":"2011","journal-title":"J Inherit Metab Dis"},{"issue":"S 02","key":"ref14","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13052-018-0560-3","article-title":"Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists","volume":"44","author":"L Boffi","year":"2018","journal-title":"Ital J Pediatr"},{"issue":"02","key":"ref15","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/s10545-012-9459-0","article-title":"Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA","volume":"36","author":"C J Hendriksz","year":"2013","journal-title":"J Inherit Metab Dis"},{"issue":"11","key":"ref16","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1016\/j.joca.2007.04.008","article-title":"A molecular and histological characterization of cartilage from patients with Morquio syndrome","volume":"15","author":"L De Franceschi","year":"2007","journal-title":"Osteoarthritis Cartilage"},{"issue":"03","key":"ref17","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.ymgme.2009.03.008","article-title":"Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients","volume":"97","author":"R A Bank","year":"2009","journal-title":"Mol Genet Metab"},{"issue":"04","key":"ref18","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.1016\/S0006-291X(74)80446-8","article-title":"Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome","volume":"61","author":"R Matalon","year":"1974","journal-title":"Biochem Biophys Res Commun"},{"issue":"05","key":"ref19","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1111\/j.1399-0004.1976.tb01603.x","article-title":"Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency","volume":"9","author":"J S O\u2019Brien","year":"1976","journal-title":"Clin Genet"},{"key":"ref20","volume-title":"Heritable Disorders of Connective Tissue","author":"V A McKusick","year":"1972","edition":"4th ed"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.cca.2016.10.012","article-title":"Total and single species of uronic 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