{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:00:48Z","timestamp":1790949648398,"version":"4.1.0"},"reference-count":171,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HD065767"],"award-info":[{"award-number":["R01HD065767"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P30GM114736"],"award-info":[{"award-number":["P30GM114736"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2017,1]]},"DOI":"10.1016\/j.ymgme.2016.11.007","type":"journal-article","created":{"date-parts":[[2016,11,29]],"date-time":"2016-11-29T14:18:32Z","timestamp":1480429112000},"page":"78-95","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":97,"title":["Mucopolysaccharidosis IVA and glycosaminoglycans"],"prefix":"10.1016","volume":"120","author":[{"given":"Shaukat","family":"Khan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos J.","family":"Alm\u00e9ciga-D\u00edaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuki","family":"Sawamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Mackenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary C.","family":"Theroux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Pizarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Mason","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadao","family":"Orii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunji","family":"Tomatsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2016.11.007_bb0005","first-page":"129","article-title":"Sur une forme de dystrophie osseuse familiale","volume":"32","author":"Morquio","year":"1929","journal-title":"Arch. Med. Infant."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0010","first-page":"404","article-title":"Chondro-osteo-dystrophy. Roentgenographic and clinical features of a child with dislocation of vertebrae","volume":"7","author":"JF","year":"1929","journal-title":"Am. J. Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0015","doi-asserted-by":"crossref","first-page":"847","DOI":"10.3181\/00379727-110-27668","article-title":"Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease","volume":"110","author":"Pedrini","year":"1962","journal-title":"Proc. Soc. Exp. Biol. Med."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0020","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1097\/00005792-196511000-00001","article-title":"The genetic mucopolysaccharidoses","volume":"44","author":"McKusick","year":"1965","journal-title":"Medicine"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0025","first-page":"72","article-title":"Study on Morquio syndrome bone metabolism (in Japanese)","volume":"5","author":"Orii","year":"1971"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0030","first-page":"169","article-title":"Late onset Nacetylgalactosamine-6-sulfate sulfatase deficiency in two brothers","volume":"13","author":"Orii","year":"1981","journal-title":"Connect. Tissue Res."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0035","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/BF02179150","article-title":"Residual activity in fibroblasts from two brothers with the late-onset form of N-acetylgalactosamine-6-sulphate sulphatase deficiency","volume":"5","author":"Sukegawa","year":"1982","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0040","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1002\/ajmg.1320180222","article-title":"Mild manifestations of the Morquio syndrome","volume":"18","author":"Hecht","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0045","doi-asserted-by":"crossref","first-page":"931","DOI":"10.2174\/138920111795542615","article-title":"Mucopolysaccharidosis type IVA (morquio a disease): clinical review and current treatment","volume":"12","author":"Tomatsu","year":"2011","journal-title":"Curr. Pharm. Biotechnol."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0050","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.ymgme.2013.04.002","article-title":"Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA","volume":"110","author":"Hendriksz","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0055","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/0006-291X(74)91022-5","article-title":"Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase","volume":"61","author":"Matalon","year":"1974","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0060","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/978-1-4684-7735-1_18","article-title":"The enzymic defects in Morquio and Maroteaux-Lamy syndrome","volume":"68","author":"Dorfman","year":"1976","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0065","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1172\/JCI108345","article-title":"N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease","volume":"57","author":"Singh","year":"1976","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0070","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":"Di Ferrante","year":"1978","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0075","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/0009-8981(78)90157-2","article-title":"A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease","volume":"88","author":"Glossl","year":"1978","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0080","doi-asserted-by":"crossref","first-page":"e0131228","DOI":"10.1371\/journal.pone.0131228","article-title":"Diagnosis of morquio syndrome in dried blood spots based on a new MRM-MS assay","volume":"10","author":"Cozma","year":"2015","journal-title":"PLoS One"},{"issue":"Pt 2","key":"10.1016\/j.ymgme.2016.11.007_bb0085","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1042\/bj2790515","article-title":"Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization","volume":"279","author":"Bielicki","year":"1991","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0090","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1093\/oxfordjournals.jbchem.a123697","article-title":"N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics","volume":"110","author":"Masue","year":"1991","journal-title":"J. Biochem."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0095","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1006\/geno.1994.1132","article-title":"Mucopolysaccharidosis IVA: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5\u2032-flanking region","volume":"20","author":"Nakashima","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0100","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/0006-291X(91)91244-7","article-title":"Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase","volume":"181","author":"Tomatsu","year":"1991","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0105","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1172\/JCI115919","article-title":"Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases","volume":"90","author":"Fukuda","year":"1992","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0110","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1093\/hmg\/4.4.741","article-title":"Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients","volume":"4","author":"Tomatsu","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0115","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S0925-4439(99)00119-2","article-title":"The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5\u2032-flanking region","volume":"1500","author":"Montano","year":"2000","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0120","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ymgme.2007.01.004","article-title":"Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase","volume":"91","author":"Tomatsu","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0125","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1093\/hmg\/9.9.1283","article-title":"Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes","volume":"9","author":"Sukegawa","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0130","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1093\/hmg\/ddm353","article-title":"Enzyme replacement therapy in a murine model of Morquio A syndrome","volume":"17","author":"Tomatsu","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0135","doi-asserted-by":"crossref","first-page":"3321","DOI":"10.1093\/hmg\/ddi364","article-title":"Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase","volume":"14","author":"Tomatsu","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0140","doi-asserted-by":"crossref","first-page":"3349","DOI":"10.1093\/hmg\/ddg366","article-title":"Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns\u2212\/\u2212) produced by targeted disruption of the gene defective in Morquio A disease","volume":"12","author":"Tomatsu","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0145","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.ymgme.2007.02.009","article-title":"Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins","volume":"91","author":"Tomatsu","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0150","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1038\/mt.2010.32","article-title":"Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome","volume":"18","author":"Tomatsu","year":"2010","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0155","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1007\/s11033-008-9392-3","article-title":"Effect of elongation factor 1alpha promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase","volume":"36","author":"Almeciga-Diaz","year":"2009","journal-title":"Mol. Biol. Rep."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0160","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1517\/21678707.2013.846853","article-title":"Therapies of mucopolysaccharidosis IVA (Morquio A syndrome)","volume":"1","author":"Tomatsu","year":"2013","journal-title":"Expert Opin. Orphan Drugs"},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2016.11.007_bb0165","first-page":"141","article-title":"Morquio A syndrome: diagnosis and current and future therapies","volume":"12","author":"Tomatsu","year":"2014","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0170","doi-asserted-by":"crossref","first-page":"69","DOI":"10.4137\/BMI.S7451","article-title":"Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine","volume":"6","author":"Hintze","year":"2011","journal-title":"Biomark. Insights"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0175","first-page":"1","article-title":"Di-sulfated keratan sulfate as a novel biomarker for mucopolysaccharidosis II, IVA, and IVB","volume":"21","author":"Shimada","year":"2015","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0180","first-page":"57","article-title":"Age related changes in the concentration of serum keratan sulphate in children journal of clinical chemistry and clinical biochemistry","volume":"26","author":"Thonar","year":"1988","journal-title":"Z. Klin. Chem. Klin. Biochem."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0185","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1007\/s10038-004-0178-8","article-title":"Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate","volume":"49","author":"Tomatsu","year":"2004","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0190","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ymgme.2013.06.007","article-title":"Newborn screening and diagnosis of mucopolysaccharidoses","volume":"110","author":"Tomatsu","year":"2013","journal-title":"Mol. Genet. Metab."},{"issue":"Suppl. 3","key":"10.1016\/j.ymgme.2016.11.007_bb0195","doi-asserted-by":"crossref","first-page":"S35","DOI":"10.1007\/s10545-009-9013-x","article-title":"Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry","volume":"33","author":"Tomatsu","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0200","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1203\/01.PDR.0000113767.60140.E9","article-title":"Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA","volume":"55","author":"Tomatsu","year":"2004","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0205","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":"Montano","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0210","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1002\/ajmg.a.32281","article-title":"Growth charts for patients affected with Morquio A disease","volume":"146A","author":"Montano","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0215","series-title":"Impairment of Body Growth in Mucopolysaccharidoses","article-title":"Impairment of body growth in mucopolysaccharidoses","author":"Tomatsu","year":"2012"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0220","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1097\/BPO.0000000000000074","article-title":"Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases","volume":"34","author":"Baratela","year":"2014","journal-title":"J. Pediatr. Orthop."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0225","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.2106\/JBJS.J.01135","article-title":"Upper cervical fusion in children with Morquio syndrome: intermediate to long-term results","volume":"95","author":"Dede","year":"2013","journal-title":"J. Bone Joint Surg. Am."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0230","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1097\/BPB.0b013e32835a0e6d","article-title":"Gait pattern and lower extremity alignment in children with Morquio syndrome","volume":"22","author":"Dhawale","year":"2013","journal-title":"J. Pediatr. Orthop. B"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0235","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1097\/BPO.0b013e318259fe57","article-title":"The lower extremity in Morquio syndrome","volume":"32","author":"Dhawale","year":"2012","journal-title":"J. Pediatr. Orthop."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0240","doi-asserted-by":"crossref","first-page":"E912","DOI":"10.1097\/BRS.0000000000000381","article-title":"Occipitocervical fusion in skeletal dysplasia: a new surgical technique","volume":"39","author":"Sitoula","year":"2014","journal-title":"Spine"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0245","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/s10545-013-9586-2","article-title":"Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management","volume":"36","author":"Solanki","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0250","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ymgme.2014.12.001","article-title":"Therapies for the bone in mucopolysaccharidoses","volume":"114","author":"Tomatsu","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0255","first-page":"65","article-title":"Current and emerging treatments and surgical interventions for Morquio A syndrome: a review","volume":"2012","author":"Tomatsu","year":"2012","journal-title":"Res. Rep. Endocr. Disord."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0260","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1007\/s11832-014-0601-4","article-title":"Orthopedic management of the extremities in patients with Morquio A syndrome","volume":"8","author":"White","year":"2014","journal-title":"J. Child. Orthop."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0265","first-page":"31","article-title":"Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA","volume":"1","author":"Chinen","year":"2014","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0270","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"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0275","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.ymgme.2016.11.007_bb0280","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.2147\/DDDT.S68562","article-title":"Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome","volume":"9","author":"Tomatsu","year":"2015","journal-title":"Drug Des. Devel. Ther."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0285","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1517\/21678707.2015.1086640","article-title":"Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations","volume":"3","author":"Tomatsu","year":"2015","journal-title":"Expert Opin. Orphan Drugs"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0290","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s12630-014-0247-1","article-title":"Paraplegia after epidural-general anesthesia in a Morquio patient with moderate thoracic spinal stenosis","volume":"62","author":"Drummond","year":"2015","journal-title":"Can. J. Anaesth."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0295","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1111\/j.1460-9592.2012.03904.x","article-title":"Anesthetic care and perioperative complications of children with Morquio syndrome","volume":"22","author":"Theroux","year":"2012","journal-title":"Paediatr. Anaesth."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0300","doi-asserted-by":"crossref","first-page":"e329","DOI":"10.1016\/j.athoracsur.2016.02.113","article-title":"Surgical reconstruction for severe tracheal obstruction in Morquio A syndrome","volume":"102","author":"Pizarro","year":"2016","journal-title":"Ann. Thorac. Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0305","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.ymgme.2015.09.007","article-title":"Obstructive airway in Morquio A syndrome, the past, the present and the future","volume":"117","author":"Tomatsu","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0310","series-title":"The Mucopolysaccharidoses","first-page":"3421","article-title":"The metabolic and molecular bases of inherited disease","author":"Neufeld","year":"2001"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0315","first-page":"5","article-title":"Growth charts for patients with Hunter syndrome","volume":"1","author":"Patel","year":"2014","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0320","first-page":"2091","article-title":"Impairment of body growth in mucopolysaccharidoses","volume":"1","author":"Tomatsu","year":"2012"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0325","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.ymgme.2013.04.009","article-title":"Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder","volume":"109","author":"Yasuda","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0330","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1002\/ppul.21246","article-title":"Skeletal dysplasias: evaluation with impulse oscillometry and thoracoabdominal motion analysis","volume":"45","author":"Rodriguez","year":"2010","journal-title":"Pediatr. Pulmonol."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0335","doi-asserted-by":"crossref","first-page":"28359","DOI":"10.1074\/jbc.271.45.28359","article-title":"Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate","volume":"271","author":"Pshezhetsky","year":"1996","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0340","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1002\/humu.22635","article-title":"Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database","volume":"35","author":"Morrone","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0345","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."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0355","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J","article-title":"Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome","volume":"10","author":"Bunge","year":"1997","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0360","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/0888-7543(95)80172-I","article-title":"Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)","volume":"26","author":"Hori","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0365","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s004390050594","article-title":"A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA","volume":"101","author":"Kato","year":"1997","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0370","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1093\/hmg\/4.3.341","article-title":"Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene","volume":"4","author":"Ogawa","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0375","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/humu.9265","article-title":"Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients","volume":"24","author":"Tomatsu","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0380","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<368::AID-HUMU6>3.0.CO;2-B","article-title":"Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene","volume":"10","author":"Tomatsu","year":"1997","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0385","first-page":"556","article-title":"Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-acetylgalactosamine-6-sulfate sulfatase gene","volume":"57","author":"Tomatsu","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0390","first-page":"950","article-title":"Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency","volume":"58","author":"Tomatsu","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0395","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ymgme.2006.05.012","article-title":"Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene","volume":"89","author":"Tomatsu","year":"2006","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0400","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<202::AID-HUMU4>3.0.CO;2-J","article-title":"Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype","volume":"11","author":"Yamada","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0405","doi-asserted-by":"crossref","first-page":"10025","DOI":"10.4238\/2014.November.28.7","article-title":"In silico analysis of mutations occurring in the protein N-acetylgalactosamine-6-sulfatase (GALNS) and causing mucopolysaccharidosis IVA","volume":"13","author":"Tamarozzi","year":"2014","journal-title":"Genet. Mol. Res."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0410","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1111\/j.1651-2227.2009.01134.x","article-title":"Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease","volume":"98","author":"Ohashi","year":"2009","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0415","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.ymgme.2016.11.007_bb0420","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1093\/clinchem\/35.7.1472","article-title":"Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses","volume":"35","author":"de Jong","year":"1989","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0425","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1258\/000456307780945688","article-title":"Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses: an evaluation","volume":"44","author":"Gray","year":"2007","journal-title":"Ann. Clin. Biochem."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0430","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0009-8981(93)90031-X","article-title":"Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2,000 urine samples","volume":"221","author":"Piraud","year":"1993","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0435","doi-asserted-by":"crossref","first-page":"2074","DOI":"10.1093\/clinchem\/35.10.2074","article-title":"Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix","volume":"35","author":"Whitley","year":"1989","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0440","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ymgme.2012.02.005","article-title":"Expert recommendations for the laboratory diagnosis of MPS VI","volume":"106","author":"Wood","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0445","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1093\/clinchem\/35.3.374","article-title":"Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion","volume":"35","author":"Whitley","year":"1989","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0450","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.4155\/bio.11.172","article-title":"Validation of an LC-MS\/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome","volume":"3","author":"Martell","year":"2011","journal-title":"Bioanalysis"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0455","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/bmc.760","article-title":"Analytical method for determination of disaccharides derived from keratan sulfates in human serum and plasma by high-performance liquid chromatography\/turbo-ionspray ionization tandem mass spectrometry","volume":"21","author":"Oguma","year":"2007","journal-title":"Biomed. Chromatogr."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0460","first-page":"006","article-title":"Assay for glycosaminoglycans by tandem mass spectrometry and its applications","volume":"2014","author":"Tomatsu","year":"2014","journal-title":"J. Anal. Bioanal. Tech."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0465","doi-asserted-by":"crossref","first-page":"655","DOI":"10.3390\/metabo4030655","article-title":"Establishment of glycosaminoglycan assays for mucopolysaccharidoses","volume":"4","author":"Tomatsu","year":"2014","journal-title":"Metabolites"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0470","article-title":"Chondroitin and keratan sulfate","author":"Tomatsu","year":"2015","journal-title":"Nova Sci."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0475","first-page":"15","article-title":"Chondroitin 6-sulfate as a novel biomarker for mucopolysaccharidosis IVA and VII","volume":"16","author":"Shimada","year":"2014","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0480","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/(SICI)1097-0223(200003)20:3<183::AID-PD774>3.0.CO;2-J","article-title":"First-trimester diagnosis of Morquio disease type","volume":"20","author":"Kleijer","year":"2000","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0485","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/pd.1970100204","article-title":"Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay","volume":"10","author":"Zhao","year":"1990","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0490","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1016\/j.cca.2011.06.001","article-title":"Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio syndrome type A) in dried blood samples","volume":"412","author":"Camelier","year":"2011","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0495","doi-asserted-by":"crossref","first-page":"5994","DOI":"10.1016\/j.bmcl.2010.08.080","article-title":"Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes","volume":"20","author":"Duffey","year":"2010","journal-title":"Bioorg. Med. Chem. Lett."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0500","series-title":"The Metabolic Basis of Inherited Disease","author":"McKusick","year":"1983"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0505","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s10545-012-9522-x","article-title":"Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII","volume":"36","author":"Rowan","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0510","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s10545-005-5673-3","article-title":"Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses","volume":"28","author":"Tomatsu","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0515","doi-asserted-by":"crossref","first-page":"3608","DOI":"10.1111\/j.1742-4658.2010.07769.x","article-title":"Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1","volume":"277","author":"Almeciga-Diaz","year":"2010","journal-title":"FEBS J."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0520","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1006\/bmme.1996.0044","article-title":"Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I","volume":"58","author":"Kakkis","year":"1996","journal-title":"Biochem. Mol. Med."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0525","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1056\/NEJM200101183440304","article-title":"Enzyme-replacement therapy in mucopolysaccharidosis I","volume":"344","author":"Kakkis","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0530","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ymgme.2007.01.004","article-title":"Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase","volume":"91","author":"Tomatsu","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0535","doi-asserted-by":"crossref","first-page":"e12194","DOI":"10.1371\/journal.pone.0012194","article-title":"Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice","volume":"5","author":"Dvorak-Ewell","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0540","doi-asserted-by":"crossref","first-page":"689","DOI":"10.4014\/jmb.1211.11044","article-title":"Effect of culture conditions and signal peptide on production of human recombinant N-acetylgalactosamine-6-sulfate sulfatase in Escherichia coli BL21","volume":"23","author":"Hernandez","year":"2013","journal-title":"Microb. Biotechnol."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0545","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1016\/j.procbio.2012.07.028","article-title":"Characterization of a recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in E. coli for enzyme replacement therapy of Morquio A disease","volume":"47","author":"Mosquera","year":"2012","journal-title":"Process Biochem."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0550","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1016\/j.procbio.2012.07.028","article-title":"Characterization of a recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in E. coli for enzyme replacement therapy of Morquio A disease","volume":"47","author":"Mosquera","year":"2012","journal-title":"Process Biochem."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0555","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1007\/s10295-010-0766-x","article-title":"Enzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21","volume":"37","author":"Rodriguez","year":"2010","journal-title":"J. Ind. Microbiol. Biotechnol."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0560","doi-asserted-by":"crossref","first-page":"S19","DOI":"10.1016\/j.ymgme.2013.12.023","article-title":"Production of an active recombinant human N-acetylgalactosamine-6-sulfate sulfatase enzyme in Pichia pastoris","volume":"111","author":"Alm\u00e9ciga-D\u00edaz","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0565","doi-asserted-by":"crossref","first-page":"S79","DOI":"10.1016\/j.ymgme.2012.11.211","article-title":"Production of recombinant human N-acetylgalactosamine-6-sulfate sulfatase enzyme in Pichia pastoris","volume":"108","author":"Rodriguez","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0570","doi-asserted-by":"crossref","first-page":"29329","DOI":"10.1038\/srep29329","article-title":"Recombinant human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in the methylotrophic yeast Pichia pastoris","volume":"6","author":"Rodriguez-Lopez","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0575","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1093\/hmg\/ddm353","article-title":"Enzyme replacement therapy in a murine model of Morquio A syndrome","volume":"17","author":"Tomatsu","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0580","doi-asserted-by":"crossref","first-page":"S17","DOI":"10.1016\/j.ymgme.2015.12.170","article-title":"Cell uptake evaluation of human recombinant lysosomal enzymes produced in Pichia pastoris","volume":"117","author":"Almeciga","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0585","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1172\/JCI846","article-title":"Decorin suppresses tumor cell growth by activating the epidermal growth factor receptor","volume":"101","author":"Moscatello","year":"1998","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0590","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.ymgme.2014.05.013","article-title":"Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?","volume":"114","author":"Tomatsu","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0595","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1007\/s40265-014-0210-z","article-title":"Elosulfase alfa: first global approval","volume":"74","author":"Sanford","year":"2014","journal-title":"Drugs"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0600","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.ymgme.2014.08.012","article-title":"Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial","volume":"114","author":"Hendriksz","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0605","author":"FDA Advisory Committee Briefing Document"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0610","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1517\/21678707.2015.1086640","article-title":"Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations","volume":"3","author":"Tomatsu","year":"2015","journal-title":"Expert Opin. Orphan Drugs"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0615","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.ymgme.2016.11.007_bb0620","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.ymgme.2014.10.015","article-title":"Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome","volume":"114","author":"Harmatz","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0625","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.ymgme.2016.05.018","article-title":"Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome","volume":"119","author":"Hendriksz","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0630","doi-asserted-by":"crossref","first-page":"2272","DOI":"10.1002\/ajmg.a.37172","article-title":"Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: a randomized, double-blind, pilot study","volume":"167A","author":"Burton","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0635","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1016\/j.bbadis.2015.02.004","article-title":"Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy","volume":"1852","author":"Donida","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0640","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1016\/j.clinthera.2014.11.005","article-title":"Immunogenicity of elosulfase alfa, an enzyme replacement therapy in patients with Morquio A syndrome: results from MOR-004, a phase III trial","volume":"37","author":"Schweighardt","year":"2015","journal-title":"Clin. Ther."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0645","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/pr.2015.169","article-title":"Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5y","volume":"78","author":"Jones","year":"2015","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0650","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ymgme.2016.04.005","article-title":"Activity of daily living for Morquio A syndrome","volume":"118","author":"Yasuda","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0655","article-title":"Current therapies for Morquio A syndrome and their clinical outcomes","volume":"4","author":"Sawamoto","year":"2016","journal-title":"Expert Opin. Orphan Drugs"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0660","first-page":"42","article-title":"30months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: about one case","volume":"9","author":"Do Cao","year":"2016","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0685","doi-asserted-by":"crossref","first-page":"112","DOI":"10.2353\/ajpath.2008.070564","article-title":"Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases","volume":"172","author":"Simonaro","year":"2008","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0690","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.ymgme.2012.09.004","article-title":"Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan","volume":"107","author":"Tanaka","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0695","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/sj.bmt.1705934","article-title":"Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome","volume":"41","author":"Tolar","year":"2008","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0700","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ymgme.2010.09.010","article-title":"Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI","volume":"102","author":"Turbeville","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0705","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/sj.bmt.1705586","article-title":"Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation","volume":"39","author":"Khanna","year":"2007","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0710","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/j.bbmt.2015.02.011","article-title":"Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines","volume":"21","author":"Aldenhoven","year":"2015","journal-title":"Biol. Blood Marrow Transplant."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0715","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.ymgme.2015.09.011","article-title":"Hematopoietic stem cell transplantation for Morquio A syndrome","volume":"117","author":"Yabe","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0720","first-page":"22","article-title":"Bone marrow transplantation for sickle cell disease. The United States experience","volume":"16","author":"Johnson","year":"1994","journal-title":"Am. J. Pediatr. Hematol. Oncol."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0725","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S1096-7192(03)00018-0","article-title":"Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry","volume":"78","author":"Ramsay","year":"2003","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0730","doi-asserted-by":"crossref","first-page":"2104","DOI":"10.1016\/j.bbmt.2016.08.015","article-title":"Allogeneic hematopoietic stem cell transplantation in thirty-four pediatric cases of mucopolysaccharidosis-a ten-year report from the China children transplant group","volume":"22","author":"Wang","year":"2016","journal-title":"Biol. Blood Marrow Transplant."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0735","doi-asserted-by":"crossref","first-page":"2007","DOI":"10.1089\/104303401753204571","article-title":"Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro","volume":"12","author":"Toietta","year":"2001","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0740","first-page":"448","article-title":"Construction of an adenoassociated, viral derived, expression vector to correct the genetic defect in Morquio A disease","volume":"28","author":"Gutierrez","year":"2008","journal-title":"Biomedica"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0745","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/S1054-3589(05)53010-2","article-title":"Structure, metabolism, and tissue roles of chondroitin sulfate proteoglycans","volume":"53","author":"Handley","year":"2006","journal-title":"Adv. Pharmacol."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0750","doi-asserted-by":"crossref","first-page":"89","DOI":"10.2174\/1566523044578077","article-title":"Promoters and control elements: designing expression cassettes for gene therapy","volume":"4","author":"Papadakis","year":"2004","journal-title":"Curr. Gene Ther."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0755","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/S0092-8674(03)00348-9","article-title":"The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases","volume":"113","author":"Cosma","year":"2003","journal-title":"Cell"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0760","series-title":"Non-viral Gene Therapy","first-page":"51","article-title":"Gene delivery systems: tailoring vectors to reach specific tissues","author":"Alm\u00e9ciga-D\u00edaz","year":"2011"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0765","first-page":"221","article-title":"Contribuci\u00f3n Colombiana al Conocimiento de la Enfermedad de Morquio","volume":"34","author":"Alm\u00e9ciga D\u00edaz","year":"2012","journal-title":"Medicina"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0770","series-title":"Delivery of Therapeutic Agents to the Bone","author":"Tomatsu","year":"2010"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0775","doi-asserted-by":"crossref","first-page":"S19","DOI":"10.1016\/j.ymgme.2012.11.022","article-title":"New viral vectors for Morquio syndrome type A gene therapy","author":"Alm\u00e9ciga-D\u00edaz","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0780","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.ymgme.2015.08.001","article-title":"Systems biology study of mucopolysaccharidosis using a human metabolic reconstruction network","volume":"117","author":"Salazar","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0785","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1001\/archotol.130.2.233","article-title":"Airway management in mucopolysaccharide storage disorders","volume":"130","author":"Shinhar","year":"2004","journal-title":"Arch. Otolaryngol. Head Neck Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0790","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/0022-3468(93)90240-L","article-title":"Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings","volume":"28","author":"Belani","year":"1993","journal-title":"J. Pediatr. Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0795","first-page":"197","article-title":"Anaesthesia for children with mucopolysaccharidoses","volume":"25","author":"Walker","year":"1997","journal-title":"Anaesth. Intensive Care"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0800","article-title":"Spinal cord injury following extremity surgery in children with thoracic kyphosis: case series","author":"Pruszcznski","year":"2016","journal-title":"Clin. Orthop. Relat. Res."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0805","doi-asserted-by":"crossref","first-page":"438","DOI":"10.2106\/JBJS.H.00148","article-title":"Cervical stenosis and spastic quadriparesis in morquio disease (MPS IV). A case report with twenty-six-year follow-up","volume":"91","author":"White","year":"2009","journal-title":"J. Bone Joint Surg. Am."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0810","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1136\/adc.66.11.1318","article-title":"Transoral decompression and posterior stabilisation in Morquio's disease","volume":"66","author":"Ashraf","year":"1991","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0815","doi-asserted-by":"crossref","first-page":"340","DOI":"10.2106\/00004623-197759030-00008","article-title":"Dysplasia of the odontoid process in Morquio's syndrome causing quadriparesis","volume":"59","author":"Lipson","year":"1977","journal-title":"J. Bone Joint Surg. Am."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0820","doi-asserted-by":"crossref","first-page":"E169","DOI":"10.1097\/01.brs.0000202758.61848.61","article-title":"Retrospective study of cervical arthrodesis in patients with various types of skeletal dysplasia","volume":"31","author":"Ain","year":"2006","journal-title":"Spine"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0825","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1302\/0301-620X.78B2.0780307","article-title":"Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experience","volume":"78","author":"Ransford","year":"1996","journal-title":"J. Bone Joint Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0830","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1302\/0301-620X.73B5.1910048","article-title":"The odontoid process in Morquio-Brailsford's disease. The effects of occipitocervical fusion","volume":"73","author":"Stevens","year":"1991","journal-title":"J. Bone Joint Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0835","series-title":"Proceedings 44th Annual Meeting & Course, San Antonio, Texas, Texas","article-title":"Thoracolumbar kyphosis in mucopolysaccharidosis I (Hurler Syndrome) Scoliosis Research Society","author":"Irfan I","year":"2009"},{"key":"10.1016\/j.ymgme.2016.11.007_bb0840","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1302\/0301-620X.78B6.0780938","article-title":"Spinal problems in mucopolysaccharidosis I (Hurler syndrome)","volume":"78","author":"Tandon","year":"1996","journal-title":"J. Bone Joint Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0845","doi-asserted-by":"crossref","first-page":"12","DOI":"10.5435\/JAAOS-21-01-12","article-title":"Mucopolysaccharide disorders in orthopaedic surgery","volume":"21","author":"White","year":"2013","journal-title":"J. Am. Acad. Orthop. Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0850","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1302\/0301-620X.92B2.23104","article-title":"Bilateral hip replacement in three patients with lysosomal storage disease: mucopolysaccharidosis type IV and mucolipidosis type III","volume":"92","author":"Lewis","year":"2010","journal-title":"J. Bone Joint Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0855","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1097\/01241398-199903000-00026","article-title":"Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation: correction by surgical intervention","volume":"19","author":"Odunusi","year":"1999","journal-title":"J. Pediatr. Orthop."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0860","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1302\/0301-620X.90B12.20641","article-title":"Total knee replacements in a patient with the Morquio syndrome","volume":"90","author":"Atinga","year":"2008","journal-title":"J. Bone Joint Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb0865","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s004020050039","article-title":"Total knee arthroplasty in patients with inherited dwarfism\u2014a report of five knee replacements in two patients with Morquio's disease type A and one with spondylo-epiphyseal dysplasia","volume":"120","author":"de Waal Malefijt","year":"2000","journal-title":"Arch. Orthop. Trauma Surg."},{"key":"10.1016\/j.ymgme.2016.11.007_bb9000","first-page":"709","volume":"2","author":"Hobbs","year":"1981","journal-title":"Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation Lancet"},{"key":"10.1016\/j.ymgme.2016.11.007_bb2015","first-page":"1606","article-title":"Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)","volume":"311","author":"Krivit","year":"1984","journal-title":"Biochemical and clinical status 24 months after transplantation N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2016.11.007_bb9005","series-title":"Molecular Basis of Lysosomal Storage Disorders","first-page":"411","article-title":"Bone marrow transplantation in Mucopolysaccharidoses","author":"Hugh-Jones","year":"1984"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719216302311?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719216302311?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T22:41:48Z","timestamp":1778798508000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719216302311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":171,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["S1096719216302311"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2016.11.007","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mucopolysaccharidosis IVA and glycosaminoglycans","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2016.11.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}