{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:51:58Z","timestamp":1762001518882,"version":"build-2065373602"},"reference-count":15,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,5,27]],"date-time":"2016-05-27T00:00:00Z","timestamp":1464307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1016\/j.ymgmr.2016.05.006","type":"journal-article","created":{"date-parts":[[2016,6,7]],"date-time":"2016-06-07T14:00:33Z","timestamp":1465308033000},"page":"8-12","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Atypical presentation of mucopolysaccharidosis type IVA"],"prefix":"10.1016","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8147-7315","authenticated-orcid":false,"given":"Eric T.","family":"Rush","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgmr.2016.05.006_bb0005","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1126\/science.199.4324.79","article-title":"Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses","volume":"199","author":"DiFerrante","year":"1978","journal-title":"Science"},{"issue":"1\u20132","key":"10.1016\/j.ymgmr.2016.05.006_bb0010","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.ymgme.2013.06.008","article-title":"Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels","volume":"110","author":"D\u0169ng","year":"2013","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.ymgmr.2016.05.006_bb0015","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/ajmg.a.36833","article-title":"International guidelines for the management and treatment of Morquio A syndrome","volume":"167A","author":"Hendriksz","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"issue":"6","key":"10.1016\/j.ymgmr.2016.05.006_bb0020","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1007\/s10545-014-9715-6","article-title":"Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study","volume":"37","author":"Hendriksz","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2016.05.006_bb0025","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/1750-1172-9-32","article-title":"Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey","volume":"9","author":"Hendriksz","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ymgmr.2016.05.006_bb0030","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1186\/s13023-014-0173-x","article-title":"A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases","volume":"9","author":"Leadley","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgmr.2016.05.006_bb0035","first-page":"125","article-title":"Spondyloepiphyseal dysplasias and bilateral legg-calv\u00e9-perthes disease: diagnostic considerations for mucopolysaccharidoses","volume":"11","author":"Mendelsohn","year":"2013","journal-title":"JIMD Rep."},{"issue":"2","key":"10.1016\/j.ymgmr.2016.05.006_bb0040","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s10545-007-0529-7","article-title":"International Morquio A Registry: clinical manifestation and natural course of Morquio A disease","volume":"30","author":"Monta\u00f1o","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2016.05.006_bb0045","first-page":"145","article-title":"Sur une forme de dystrophie osseuse familiale","volume":"27","author":"Morquio","year":"1929","journal-title":"Bull. Soc. Pediatr. (Paris)"},{"issue":"2","key":"10.1016\/j.ymgmr.2016.05.006_bb0050","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ymgme.2014.03.004","article-title":"Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations","volume":"112","author":"Morrone","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgmr.2016.05.006_bb0055","first-page":"A178","article-title":"Mucopolysaccharidosis type IVA: characterization and chromosomal localization of N-acetylgalactosamine-6-sulfate sulfatase gene and genetic heterogeneity","volume":"51","author":"Tomatsu","year":"1992","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.ymgmr.2016.05.006_bb0060","doi-asserted-by":"crossref","DOI":"10.1136\/jmg.2003.018010","article-title":"Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene","volume":"41","author":"Tomatsu","year":"2004","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgmr.2016.05.006_bb0065","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/s10545-013-9587-1","article-title":"Diagnosing mucopolysaccharidosis IVA","volume":"36","author":"Wood","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2016.05.006_bb0070","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1002\/humu.20257","article-title":"Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)","volume":"26","author":"Tomatsu","year":"2005","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.ymgmr.2016.05.006_bb0075","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s00256-013-1797-y","article-title":"Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose","volume":"43","author":"Lachman","year":"2014","journal-title":"Skeletal Radiol."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426916300398?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426916300398?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:48:55Z","timestamp":1762001335000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426916300398"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":15,"alternative-id":["S2214426916300398"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2016.05.006","relation":{},"ISSN":["2214-4269"],"issn-type":[{"type":"print","value":"2214-4269"}],"subject":[],"published":{"date-parts":[[2016,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Atypical presentation of mucopolysaccharidosis type IVA","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2016.05.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Author. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}