{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T00:42:05Z","timestamp":1793752925478,"version":"4.6.1"},"reference-count":148,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,6,13]],"date-time":"2019-06-13T00:00:00Z","timestamp":1560384000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,6,13]],"date-time":"2019-06-13T00:00:00Z","timestamp":1560384000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1186\/s13023-019-1074-9","type":"journal-article","created":{"date-parts":[[2019,6,13]],"date-time":"2019-06-13T12:02:30Z","timestamp":1560427350000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":88,"title":["Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance"],"prefix":"10.1186","volume":"14","author":[{"name":"MPS Consensus Programme Steering Committee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Umut","family":"Akyol","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"MPS Consensus Programme Co-Chairs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tord D.","family":"Alden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hernan","family":"Amartino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Ashworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumar","family":"Belani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth I.","family":"Berger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Borgo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Braunlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshikatsu","family":"Eto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey I.","family":"Gold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Jester","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon A.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cengiz","family":"Karsli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Mackenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane Ruschel","family":"Marinho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"McFadyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jim","family":"McGill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Muenzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torayuki","family":"Okuyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Orchard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bob","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Walker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Wynn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Harmatz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2179-3639","authenticated-orcid":false,"given":"Christian","family":"Hendriksz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Scarpa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,6,13]]},"reference":[{"issue":"Suppl 5","key":"1074_CR1","doi-asserted-by":"publisher","first-page":"v4","DOI":"10.1093\/rheumatology\/ker394","volume":"50","author":"J Muenzer","year":"2011","unstructured":"Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl 5):v4\u201312.","journal-title":"Rheumatology (Oxford)"},{"key":"1074_CR2","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1111\/jpc.13122","volume":"52","author":"RA James","year":"2016","unstructured":"James RA, Singh-Grewal D, Lee SJ, McGill J, Adib N, Australian Paediatric rheumatology G. Lysosomal storage disorders: a review of the musculoskeletal features. J Paediatr Child Health. 2016;52:262\u201371.","journal-title":"J Paediatr Child Health"},{"key":"1074_CR3","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1007\/s00381-014-2578-1","volume":"31","author":"A Leone","year":"2015","unstructured":"Leone A, Rigante D, Amato DZ, Casale R, Pedone L, Magarelli N, et al. Spinal involvement in mucopolysaccharidoses: a review. Childs Nerv Syst. 2015;31:203\u201312.","journal-title":"Childs Nerv Syst"},{"key":"1074_CR4","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1007\/s11926-013-0389-0","volume":"16","author":"R Cimaz","year":"2014","unstructured":"Cimaz R, La Torre F. Mucopolysaccharidoses. Curr Rheumatol Rep. 2014;16:389.","journal-title":"Curr Rheumatol Rep"},{"key":"1074_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10545-013-9613-3","volume":"37","author":"LD Archer","year":"2014","unstructured":"Archer LD, Langford-Smith KJ, Bigger BW, Fildes JE. Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity. J Inherit Metab Dis. 2014;37:1\u201312.","journal-title":"J Inherit Metab Dis"},{"key":"1074_CR6","doi-asserted-by":"publisher","first-page":"1448","DOI":"10.1148\/rg.2016150168","volume":"36","author":"R Reichert","year":"2016","unstructured":"Reichert R, Campos LG, Vairo F, de Souza CF, Perez JA, Duarte JA, et al. Neuroimaging findings in patients with Mucopolysaccharidosis: what you really need to know. Radiographics. 2016;36:1448\u201362.","journal-title":"Radiographics."},{"key":"1074_CR7","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1002\/humu.20257","volume":"26","author":"S Tomatsu","year":"2005","unstructured":"Tomatsu S, Montano AM, Nishioka T, Gutierrez MA, Pena OM, Tranda Firescu GG, et al. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio a). Hum Mutat. 2005;26:500\u201312.","journal-title":"Hum Mutat"},{"key":"1074_CR8","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/j.ymgme.2013.01.021","volume":"109","author":"P Harmatz","year":"2013","unstructured":"Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, et al. The Morquio a clinical assessment program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio a subjects. Mol Genet Metab. 2013;109:54\u201361.","journal-title":"Mol Genet Metab"},{"key":"1074_CR9","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/j.ymgme.2009.03.008","volume":"97","author":"RA Bank","year":"2009","unstructured":"Bank RA, Groener JE, van Gemund JJ, Maaswinkel PD, Hoeben KA, Schut HA, et al. Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome a patients. Mol Genet Metab. 2009;97:196\u2013201.","journal-title":"Mol Genet Metab"},{"key":"1074_CR10","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1007\/BF01799267","volume":"19","author":"H Northover","year":"1996","unstructured":"Northover H, Cowie RA, Wraith JE. Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis. 1996;19:357\u201365.","journal-title":"J Inherit Metab Dis"},{"key":"1074_CR11","doi-asserted-by":"publisher","first-page":"931","DOI":"10.2174\/138920111795542615","volume":"12","author":"S Tomatsu","year":"2011","unstructured":"Tomatsu S, Montano AM, Oikawa H, Smith M, Barrera L, Chinen Y, et al. Mucopolysaccharidosis type IVA (Morquio a disease): clinical review and current treatment. Curr Pharm Biotechnol. 2011;12:931\u201345.","journal-title":"Curr Pharm Biotechnol"},{"key":"1074_CR12","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1186\/s13023-014-0173-x","volume":"9","author":"RM Leadley","year":"2014","unstructured":"Leadley RM, Lang S, Misso K, Bekkering T, Ross J, Akiyama T, et al. A systematic review of the prevalence of Morquio a syndrome: challenges for study reporting in rare diseases. Orphanet J Rare Dis. 2014;9:173.","journal-title":"Orphanet J Rare Dis."},{"key":"1074_CR13","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1007\/s10545-013-9587-1","volume":"36","author":"TC Wood","year":"2013","unstructured":"Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, et al. Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis. 2013;36:293\u2013307.","journal-title":"J Inherit Metab Dis"},{"key":"1074_CR14","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1007\/s10545-007-0529-7","volume":"30","author":"AM Montano","year":"2007","unstructured":"Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio a registry: clinical manifestation and natural course of Morquio a disease. J Inherit Metab Dis. 2007;30:165\u201374.","journal-title":"J Inherit Metab Dis"},{"key":"1074_CR15","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/8904_2012_179","volume":"9","author":"R Aslam","year":"2013","unstructured":"Aslam R, van Bommel ACM, Hendriksz CJ, Jester A. Subjective and objective assessment of hand function in Mucopolysaccharidosis IVa patients. JIMD Rep. 2013;9:59\u201365.","journal-title":"JIMD Rep"},{"key":"1074_CR16","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1097\/BPB.0b013e32835a0e6d","volume":"22","author":"AA Dhawale","year":"2013","unstructured":"Dhawale AA, Church C, Henley J, Holmes L Jr, Thacker MM, Mackenzie WG, et al. Gait pattern and lower extremity alignment in children with Morquio syndrome. J Pediatr Orthop B. 2013;22:59\u201362.","journal-title":"J Pediatr Orthop B"},{"key":"1074_CR17","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1002\/ajmg.a.36833","volume":"167A","author":"CJ Hendriksz","year":"2015","unstructured":"Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, et al. International guidelines for the management and treatment of Morquio a syndrome. Am J Med Genet A. 2015;167A:11\u201325.","journal-title":"Am J Med Genet A"},{"key":"1074_CR18","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1007\/s10545-012-9555-1","volume":"36","author":"KI Berger","year":"2013","unstructured":"Berger KI, Fagondes SC, Giugliani R, Hardy KA, Lee KS, McArdle C, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36:201\u201310.","journal-title":"J Inherit Metab Dis"},{"key":"1074_CR19","first-page":"59","volume":"15","author":"C Lavery","year":"2015","unstructured":"Lavery C, Hendriksz C. Mortality in patients with morquio syndrome a. JIMD Rep. 2015;15:59\u201366.","journal-title":"JIMD Rep."},{"key":"1074_CR20","doi-asserted-by":"publisher","first-page":"e0162612","DOI":"10.1371\/journal.pone.0162612","volume":"11","author":"C Kampmann","year":"2016","unstructured":"Kampmann C, Abu-Tair T, Gokce S, Lampe C, Reinke J, Mengel E, et al. Heart and cardiovascular involvement in patients with Mucopolysaccharidosis type IVA (Morquio-a syndrome). PLoS One. 2016;11:e0162612.","journal-title":"PLoS One"},{"key":"1074_CR21","doi-asserted-by":"publisher","first-page":"e1000097","DOI":"10.1371\/journal.pmed.1000097","volume":"6","author":"D Moher","year":"2009","unstructured":"Moher D, Liberati A, Tetzlaff J, Altman DG, Group P. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med. 2009;6:e1000097.","journal-title":"PLoS Med"},{"key":"1074_CR22","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/1472-6947-7-16","volume":"7","author":"C Schardt","year":"2007","unstructured":"Schardt C, Adams MB, Owens T, Keitz S, Fontelo P. Utilization of the PICO framework to improve searching PubMed for clinical questions. BMC Med Inform Decis Mak. 2007;7:16.","journal-title":"BMC Med Inform Decis Mak"},{"key":"1074_CR23","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1046\/j.1365-2648.2000.t01-1-01567.x","volume":"32","author":"F Hasson","year":"2000","unstructured":"Hasson F, Keeney S, McKenna H. Research guidelines for the Delphi survey technique. J Adv Nurs. 2000;32:1008\u201315.","journal-title":"J Adv Nurs"},{"key":"1074_CR24","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1016\/j.jclinepi.2013.12.002","volume":"67","author":"IR Diamond","year":"2014","unstructured":"Diamond IR, Grant RC, Feldman BM, Pencharz PB, Ling SC, Moore AM, et al. Defining consensus: a systematic review recommends methodologic criteria for reporting of Delphi studies. J Clin Epidemiol. 2014;67:401\u20139.","journal-title":"J Clin Epidemiol"},{"key":"1074_CR25","doi-asserted-by":"publisher","first-page":"E839","DOI":"10.1503\/cmaj.090449","volume":"182","author":"MC Brouwers","year":"2010","unstructured":"Brouwers MC, Kho ME, Browman GP, Burgers JS, Cluzeau F, Feder G, et al. AGREE II: advancing guideline development, reporting and evaluation in health care. CMAJ. 2010;182:E839\u201342.","journal-title":"CMAJ."},{"key":"1074_CR26","doi-asserted-by":"crossref","unstructured":"Politei JM, Gordillo-Gonzalez G, Guelbert N, CFM S, Lourenco CM, Solano ML, et al. Recommendations for evaluation and management of pain in patients with mucopolysaccharidosis in Latin America. J Pain Symptom Manage. 2018.","DOI":"10.1016\/j.jpainsymman.2018.03.020"},{"key":"1074_CR27","first-page":"7257230","volume":"2017","author":"S Congedi","year":"2017","unstructured":"Congedi S, Di Pede C, Scarpa M, Rampazzo A, Benini F. The complexity of pain Management in Children Affected by Mucopolysaccharidoses. Case Rep Pediatr. 2017;2017:7257230.","journal-title":"Case Rep Pediatr"},{"key":"1074_CR28","unstructured":"VIMIZIM (elosulfase alfa) Prescribing Information. 2014. https:\/\/vimizim.com\/ Accessed 15 June 2018."},{"key":"1074_CR29","doi-asserted-by":"publisher","first-page":"1521","DOI":"10.1080\/17512433.2017.1260000","volume":"9","author":"CJ Hendriksz","year":"2016","unstructured":"Hendriksz CJ. Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio a syndrome). Expert Rev Clin Pharmacol. 2016;9:1521\u201332.","journal-title":"Expert Rev Clin Pharmacol"},{"key":"1074_CR30","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1007\/s10545-014-9715-6","volume":"37","author":"CJ Hendriksz","year":"2014","unstructured":"Hendriksz CJ, Burton B, Fleming TR, Harmatz P, Hughes D, Jones SA, et al. 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. J Inherit Metab Dis. 2014;37:979\u201390.","journal-title":"J Inherit Metab Dis"},{"key":"1074_CR31","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/j.ymgme.2017.11.015","volume":"123","author":"CJ Hendriksz","year":"2018","unstructured":"Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, et al. Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio a syndrome in an open-label, multi-center, phase 3 extension study. Mol Genet Metab. 2018;123:127\u201334.","journal-title":"Mol Genet Metab"},{"key":"1074_CR32","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1016\/j.ymgme.2018.02.011","volume":"123","author":"C Hendriksz","year":"2018","unstructured":"Hendriksz C, Santra S, Jones SA, Geberhiwot T, Jesaitis L, Long B, et al. Safety, immunogenicity, and clinical outcomes in patients with Morquio a syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002\/MOR-100), representing 5years of treatment. Mol Genet Metab. 2018;123:479\u201387.","journal-title":"Mol Genet Metab"},{"key":"1074_CR33","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1016\/j.ymgme.2014.08.012","volume":"114","author":"CJ Hendriksz","year":"2015","unstructured":"Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, et al. Multi-domain impact of elosufase alfa in Morquio a syndrome in the pivotal phase III trial. Mol Genet Metab. 2015;114:178\u201385.","journal-title":"Mol Genet Metab"},{"key":"1074_CR34","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.ymgme.2016.05.018","volume":"119","author":"CJ Hendriksz","year":"2016","unstructured":"Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Solano Villarreal ML, et al. Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio a syndrome. Mol Genet Metab. 2016;119:131\u201343.","journal-title":"Mol Genet Metab"},{"key":"1074_CR35","doi-asserted-by":"publisher","first-page":"2272","DOI":"10.1002\/ajmg.a.37172","volume":"167A","author":"BK Burton","year":"2015","unstructured":"Burton BK, Berger KI, Lewis GD, Tarnopolsky M, Treadwell M, Mitchell JJ, et al. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: a randomized, double-blind, pilot study. Am J Med Genet A. 2015;167A:2272\u201381.","journal-title":"Am J Med Genet A"},{"key":"1074_CR36","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1186\/s13023-017-0634-0","volume":"12","author":"D Hughes","year":"2017","unstructured":"Hughes D, Giugliani R, Guffon N, Jones SA, Mengel KE, Parini R, et al. Clinical outcomes in a subpopulation of adults with Morquio a syndrome: results from a long-term extension study of elosulfase alfa. Orphanet J Rare Dis. 2017;12:98.","journal-title":"Orphanet J Rare Dis"},{"key":"1074_CR37","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1038\/pr.2015.169","volume":"78","author":"SA Jones","year":"2015","unstructured":"Jones SA, Bialer M, Parini R, Martin K, Wang H, Yang K, et al. Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio a syndrome (mucopolysaccharidosis IVA) less than 5 y. Pediatr Res. 2015;78:717\u201322.","journal-title":"Pediatr Res"},{"key":"1074_CR38","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1177\/2326409817718850","volume":"5","author":"M Treadwell","year":"2017","unstructured":"Treadwell M, Harmatz P, Burton B, Mitchell J, Muschol N, Jones S, et al. Impact of Elosulfase alfa on pain in patients with Morquio a syndrome over 52 weeks: MOR-008 \u2013 a randomized, Double-blind, Pilot Study. J Inborn Errors Metab Screen. 2017;5:1\u201312.","journal-title":"J Inborn Errors Metab Screen"},{"key":"1074_CR39","unstructured":"VIMIZIM (elosulfase alfa) Prescribing Information (EU). 2014. http:\/\/www.ema.europa.eu\/docs\/en_GB\/document_library\/EPAR_-_Product_Information\/human\/002779\/WC500169239.pdf Accessed 15 Aug 2018."},{"key":"1074_CR40","first-page":"65","volume":"2012","author":"S Tomatsu","year":"2012","unstructured":"Tomatsu S, Mackenzie WG, Theroux MC, Mason RW, Thacker MM, Shaffer TH, et al. Current and emerging treatments and surgical interventions for Morquio a syndrome: a review. Res Rep Endocr Disord. 2012;2012:65\u201377.","journal-title":"Res Rep Endocr Disord"},{"key":"1074_CR41","unstructured":"NICE. Elosulfase alfa for treating mucopolysaccharidosis type IVa. 2015. https:\/\/www.nice.org.uk\/guidance\/hst2 Accessed 6 June 2018."},{"key":"1074_CR42","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.ymgmr.2017.10.012","volume":"14","author":"N Finnigan","year":"2018","unstructured":"Finnigan N, Roberts J, Mercer J, Jones SA. Home infusion with Elosulfase alpha (Vimizim(R)) in a UK Paediatric setting. Mol Genet Metab Rep. 2018;14:15\u20138.","journal-title":"Mol Genet Metab Rep."},{"key":"1074_CR43","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.ymgmr.2018.02.007","volume":"15","author":"CJ Hendriksz","year":"2018","unstructured":"Hendriksz CJ, Harmatz P, Giugliani R, Roberts J, Arul GS. Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders. Mol Genet Metab Rep. 2018;15:71\u20133.","journal-title":"Mol Genet Metab Rep."},{"key":"1074_CR44","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/j.ymgmr.2017.10.003","volume":"13","author":"M McLoughlin","year":"2017","unstructured":"McLoughlin M, Stepien KM, McNelly B, Thompson L, Gorton J, Hendriksz CJ. The use of port-a-caths in adult patients with lysosomal storage disorders receiving enzyme replacement therapy-one Centre experience. Mol Genet Metab Rep. 2017;13:111\u20134.","journal-title":"Mol Genet Metab Rep."},{"key":"1074_CR45","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1164\/ajrccm.166.1.at1102","volume":"166","author":"Laboratories ATSCoPSfCPF","year":"2002","unstructured":"Laboratories ATSCoPSfCPF. ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med. 2002;166:111\u20137.","journal-title":"Am J Respir Crit Care Med"},{"key":"1074_CR46","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1186\/s13023-017-0633-1","volume":"12","author":"R Schrover","year":"2017","unstructured":"Schrover R, Evans K, Giugliani R, Noble I, Bhattacharya K. Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio a syndrome. Orphanet J Rare Dis. 2017;12:78.","journal-title":"Orphanet J Rare Dis."},{"key":"1074_CR47","doi-asserted-by":"publisher","first-page":"1286","DOI":"10.1002\/ajmg.a.32281","volume":"146A","author":"AM Montano","year":"2008","unstructured":"Montano AM, Tomatsu S, Brusius A, Smith M, Orii T. Growth charts for patients affected with Morquio a disease. Am J Med Genet A. 2008;146A:1286\u201395.","journal-title":"Am J Med Genet A"},{"key":"1074_CR48","doi-asserted-by":"crossref","unstructured":"Saville JT, McDermott BK, Fletcher JM, Fuller M. Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses. Genet Med. 2018.","DOI":"10.1038\/s41436-018-0136-z"},{"key":"1074_CR49","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.ymgmr.2017.04.005","volume":"11","author":"B Donida","year":"2017","unstructured":"Donida B, Marchetti DP, Jacques CED, Ribas G, Deon M, Manini P, et al. Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: increased keratan urinary levels. Mol Genet Metab Rep. 2017;11:46\u201353.","journal-title":"Mol Genet Metab Rep"},{"key":"1074_CR50","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/8904_2016_1","volume":"34","author":"KA Ellsworth","year":"2017","unstructured":"Ellsworth KA, Pollard LM, Cathey S, Wood T. Measurement of elevated concentrations of urine Keratan sulfate by UPLC-MSMS in lysosomal storage disorders (LSDs): comparison of urine Keratan sulfate levels in MPS IVA versus other LSDs. JIMD Rep. 2017;34:11\u20138.","journal-title":"JIMD Rep."},{"key":"1074_CR51","doi-asserted-by":"publisher","first-page":"179","DOI":"10.4155\/bio.15.239","volume":"8","author":"C Auray-Blais","year":"2016","unstructured":"Auray-Blais C, Lavoie P, Maranda B, Boutin M. Evaluation of urinary keratan sulfate disaccharides in MPS IVA patients using UPLC-MS\/MS. Bioanalysis. 2016;8:179\u201391.","journal-title":"Bioanalysis."},{"key":"1074_CR52","doi-asserted-by":"publisher","first-page":"e0138622","DOI":"10.1371\/journal.pone.0138622","volume":"10","author":"EJ Langereis","year":"2015","unstructured":"Langereis EJ, Wagemans T, Kulik W, Lefeber DJ, van Lenthe H, Oussoren E, et al. A multiplex assay for the diagnosis of mucopolysaccharidoses and mucolipidoses. PLoS One. 2015;10:e0138622.","journal-title":"PLoS One"},{"key":"1074_CR53","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1016\/j.ymgme.2013.06.008","volume":"110","author":"VC Dung","year":"2013","unstructured":"Dung VC, Tomatsu S, Montano AM, Gottesman G, Bober MB, Mackenzie W, et al. Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab. 2013;110:129\u201338.","journal-title":"Mol Genet Metab"},{"key":"1074_CR54","doi-asserted-by":"publisher","first-page":"1855","DOI":"10.4155\/bio.11.172","volume":"3","author":"LA Martell","year":"2011","unstructured":"Martell LA, Cunico RL, Ohh J, Fulkerson W, Furneaux R, Foehr ED. Validation of an LC-MS\/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio a syndrome. Bioanalysis. 2011;3:1855\u201366.","journal-title":"Bioanalysis."},{"key":"1074_CR55","unstructured":"Khan SAMR, Giugliani R, Orii K, Fukao T, Suzuki Y, Yamaguchi S, Kobayashi H, Orii T, Tomatsu S. Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis. Mol Genet Metab. 2018;(18):30142."},{"key":"1074_CR56","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1097\/BPO.0000000000000074","volume":"34","author":"WA Baratela","year":"2014","unstructured":"Baratela WA, Bober MB, Thacker MM, Belthur MV, Oto M, Rogers KJ, et al. Cervicothoracic myelopathy in children with Morquio syndrome a: a report of 4 cases. J Pediatr Orthop. 2014;34:223\u20138.","journal-title":"J Pediatr Orthop"},{"key":"1074_CR57","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1016\/j.ymgme.2018.02.002","volume":"123","author":"K Nagao","year":"2018","unstructured":"Nagao K, Morlet T, Haley E, Padilla J, Nemith J, Mason RW, et al. Neurophysiology of hearing in patients with mucopolysaccharidosis type IV. Mol Genet Metab. 2018;123:472\u20138.","journal-title":"Mol Genet Metab"},{"key":"1074_CR58","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1016\/j.ymgme.2014.02.003","volume":"111","author":"HY Lin","year":"2014","unstructured":"Lin HY, Shih SC, Chuang CK, Lee KS, Chen MR, Lin HC, et al. Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses. Mol Genet Metab. 2014;111:533\u20138.","journal-title":"Mol Genet Metab"},{"key":"1074_CR59","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1007\/s13353-017-0421-6","volume":"59","author":"K Szklanny","year":"2018","unstructured":"Szklanny K, Gubrynowicz R, Tylki-Szymanska A. Voice alterations in patients with Morquio a syndrome. J Appl Genet. 2018;59:73\u201380.","journal-title":"J Appl Genet"},{"key":"1074_CR60","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1016\/j.jfo.2010.09.008","volume":"33","author":"J Couprie","year":"2010","unstructured":"Couprie J, Denis P, Guffon N, Reynes N, Masset H, Beby F. Ocular manifestations in patients affected by Morquio syndrome (MPS IV). J Fr Ophtalmol. 2010;33:617\u201322.","journal-title":"J Fr Ophtalmol"},{"key":"1074_CR61","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/1750-1172-9-32","volume":"9","author":"CJ Hendriksz","year":"2014","unstructured":"Hendriksz CJ, Lavery C, Coker M, Ucar SK, Jain M, Bell L, et al. Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey. Orphanet J Rare Dis. 2014;9:32.","journal-title":"Orphanet J Rare Dis"},{"key":"1074_CR62","doi-asserted-by":"publisher","first-page":"1937","DOI":"10.2147\/DDDT.S68562","volume":"9","author":"S Tomatsu","year":"2015","unstructured":"Tomatsu S, Sawamoto K, Almeciga-Diaz CJ, Shimada T, Bober MB, Chinen Y, et al. Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio a syndrome. Drug Des Devel Ther. 2015;9:1937\u201353.","journal-title":"Drug Des Devel Ther"},{"key":"1074_CR63","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/j.ymgme.2014.12.001","volume":"114","author":"S Tomatsu","year":"2015","unstructured":"Tomatsu S, Almeciga-Diaz CJ, Montano AM, Yabe H, Tanaka A, Dung VC, et al. Therapies for the bone in mucopolysaccharidoses. Mol Genet Metab. 2015;114:94\u2013109.","journal-title":"Mol Genet Metab"},{"key":"1074_CR64","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1080\/21678707.2016.1214572","volume":"4","author":"K Sawamoto","year":"2016","unstructured":"Sawamoto K, Suzuki Y, Mackenzie WG, Theroux MC, Pizarro C, Yabe H, et al. Current therapies for Morquio a syndrome and their clinical outcomes. Expert Opin Orphan Drugs. 2016;4:941\u201351.","journal-title":"Expert Opin Orphan Drugs"},{"key":"1074_CR65","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/j.ymgme.2016.04.005","volume":"118","author":"E Yasuda","year":"2016","unstructured":"Yasuda E, Suzuki Y, Shimada T, Sawamoto K, Mackenzie WG, Theroux MC, et al. Activity of daily living for Morquio a syndrome. Mol Genet Metab. 2016;118:111\u201322.","journal-title":"Mol Genet Metab"},{"key":"1074_CR66","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1016\/j.ymgme.2015.09.011","volume":"117","author":"H Yabe","year":"2016","unstructured":"Yabe H, Tanaka A, Chinen Y, Kato S, Sawamoto K, Yasuda E, et al. Hematopoietic stem cell transplantation for Morquio a syndrome. Mol Genet Metab. 2016;117:84\u201394.","journal-title":"Mol Genet Metab"},{"key":"1074_CR67","doi-asserted-by":"publisher","first-page":"S93","DOI":"10.1016\/j.bbmt.2014.11.112","volume":"21","author":"M Aldenhoven","year":"2015","unstructured":"Aldenhoven M, Jones S, Bonney D, Borrill R, Coussons M, Mercer J, et al. Hematopoietic Cell Transplantation for MPS Patients Is Safe and Effective: Results after Implementation of International Guidelines. Biol Blood Marrow Transplant. 2015;21:S93.","journal-title":"Biol Blood Marrow Transplant"},{"key":"1074_CR68","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1038\/sj.bmt.1705718","volume":"40","author":"JJ Boelens","year":"2007","unstructured":"Boelens JJ, Wynn RF, O'Meara A, Veys P, Bertrand Y, Souillet G, et al. Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure. Bone Marrow Transplant. 2007;40:225\u201333.","journal-title":"Bone Marrow Transplant"},{"key":"1074_CR69","doi-asserted-by":"publisher","first-page":"3981","DOI":"10.1182\/blood-2012-09-455238","volume":"121","author":"JJ Boelens","year":"2013","unstructured":"Boelens JJ, Aldenhoven M, Purtill D, Ruggeri A, Defor T, Wynn R, et al. Outcomes of transplantation using various hematopoietic cell sources in children with hurler syndrome after myeloablative conditioning. Blood. 2013;121:3981\u20137.","journal-title":"Blood."},{"key":"1074_CR70","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1016\/j.ymgme.2016.01.011","volume":"117","author":"A Ghosh","year":"2016","unstructured":"Ghosh A, Miller W, Orchard PJ, Jones SA, Mercer J, Church HJ, et al. Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis type I: 10 year combined experience of 2 centres. Mol Genet Metab. 2016;117:373\u20137.","journal-title":"Mol Genet Metab"},{"key":"1074_CR71","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1016\/j.ymgmr.2014.04.001","volume":"1","author":"P Patel","year":"2014","unstructured":"Patel P, Suzuki Y, Tanaka A, Yabe H, Kato S, Shimada T, et al. Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with hunter syndrome. Mol Genet Metab Rep. 2014;1:184\u201396.","journal-title":"Mol Genet Metab Rep."},{"key":"1074_CR72","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/8904_2011_9","volume":"1","author":"DJ Coman","year":"2011","unstructured":"Coman DJ, Hayes IM, Collins V, Sahhar M, Wraith JE, Delatycki MB. Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians. JIMD Rep. 2011;1:9\u201315.","journal-title":"JIMD Rep."},{"key":"1074_CR73","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.ymgmr.2015.03.011","volume":"3","author":"R Parini","year":"2015","unstructured":"Parini R, Rigoldi M, Tedesco L, Boffi L, Brambilla A, Bertoletti S, et al. Enzymatic replacement therapy for hunter disease: up to 9 years experience with 17 patients. Mol Genet Metab Rep. 2015;3:65\u201374.","journal-title":"Mol Genet Metab Rep."},{"key":"1074_CR74","doi-asserted-by":"crossref","unstructured":"Eisengart JB, Rudser KD, Xue Y, Orchard P, Miller W, Lund T, et al. Long-term outcomes of systemic therapies for hurler syndrome: an international multicenter comparison. Genet Med. 2018.","DOI":"10.1038\/gim.2018.29"},{"key":"1074_CR75","first-page":"45","volume":"9","author":"MF Algahim","year":"2013","unstructured":"Algahim MF, Almassi GH. Current and emerging management options for patients with Morquio a syndrome. Ther Clin Risk Manag. 2013;9:45\u201353.","journal-title":"Ther Clin Risk Manag"},{"key":"1074_CR76","doi-asserted-by":"publisher","first-page":"1546","DOI":"10.1002\/ajmg.a.33902","volume":"155A","author":"A John","year":"2011","unstructured":"John A, Fagondes S, Schwartz I, Azevedo AC, Barrios P, Dalcin P, et al. Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI. Am J Med Genet A. 2011;155A:1546\u201351.","journal-title":"Am J Med Genet A"},{"key":"1074_CR77","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1136\/thorax.58.5.458","volume":"58","author":"PP Walker","year":"2003","unstructured":"Walker PP, Rose E, Williams JG. Upper airways abnormalities and tracheal problems in Morquio's disease. Thorax. 2003;58:458\u20139.","journal-title":"Thorax."},{"key":"1074_CR78","doi-asserted-by":"crossref","unstructured":"Giles TLLT, Smith B, White J, Wright JJ, Cates CJ. Continuous positive airways pressure for relieving signs and symptoms of obstructive sleep apnoea. Cochrane Database Syst Rev. 2006. http:\/\/www.cochrane.org\/CD001106\/AIRWAYS_continuous-positive-airways-pressure-for-relieving-signs-and-symptoms-of-obstructive-sleep-apnoea ; Accessed 9 July 2018.","DOI":"10.1002\/14651858.CD001106.pub2"},{"key":"1074_CR79","unstructured":"NICE. Continuous positive airway pressure for the treatment of obstructive sleep apnoea\/hypopnoea syndrome. Technology appraisal guidance [TA139]. 2008. https:\/\/www.nice.org.uk\/guidance\/ta139\/chapter\/1-Guidance Accessed 9 July 2018."},{"key":"1074_CR80","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.ymgme.2017.08.008","volume":"122S","author":"DM Rapoport","year":"2017","unstructured":"Rapoport DM, Mitchell JJ. Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses. Mol Genet Metab. 2017;122S:49\u201354.","journal-title":"Mol Genet Metab"},{"key":"1074_CR81","doi-asserted-by":"publisher","first-page":"1639","DOI":"10.1002\/cphy.c140008","volume":"4","author":"AJ Piper","year":"2014","unstructured":"Piper AJ, Yee BJ. Hypoventilation syndromes. Compr Physiol. 2014;4:1639\u201376.","journal-title":"Compr Physiol"},{"key":"1074_CR82","doi-asserted-by":"crossref","unstructured":"Faria DAS, da Silva EM, Atallah \u00c1N, Vital FMR. Noninvasive positive pressure ventilation for acute respiratory failure following upper abdominal surgery. Cochrane Database Syst Rev. 2015. http:\/\/www.cochrane.org\/CD009134\/ANAESTH_noninvasive-positive-pressure-ventilation-acute-respiratory-failure-following-upper-abdominal ; Accessed 9 July 2018.","DOI":"10.1002\/14651858.CD009134.pub2"},{"key":"1074_CR83","doi-asserted-by":"crossref","unstructured":"Ram FS, Picot J, Lightowler J, Wedzicha JA. Non-invasive positive pressure ventilation for treatment of respiratory failure due to exacerbations of chronic obstructive pulmonary disease. Cochrane Database Syst Rev. 2003. http:\/\/cochranelibrary-wiley.com\/doi\/10.1002\/14651858.CD004104.pub2\/abstract ; Accessed 9 July 2018.","DOI":"10.1002\/14651858.CD004104.pub2"},{"key":"1074_CR84","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1007\/s10545-012-9563-1","volume":"36","author":"R Walker","year":"2013","unstructured":"Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36:211\u20139.","journal-title":"J Inherit Metab Dis"},{"key":"1074_CR85","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1177\/0310057X9602400408","volume":"24","author":"C Moores","year":"1996","unstructured":"Moores C, Rogers JG, McKenzie IM, Brown TC. Anaesthesia for children with mucopolysaccharidoses. Anaesth Intensive Care. 1996;24:459\u201363.","journal-title":"Anaesth Intensive Care"},{"key":"1074_CR86","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/S0952-8180(99)00007-0","volume":"11","author":"JD Tobias","year":"1999","unstructured":"Tobias JD. Anesthetic care for the child with Morquio syndrome: general versus regional anesthesia. J Clin Anesth. 1999;11:242\u20136.","journal-title":"J Clin Anesth"},{"key":"1074_CR87","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.1111\/j.1365-2044.1994.tb04360.x","volume":"49","author":"RW Walker","year":"1994","unstructured":"Walker RW, Darowski M, Morris P, Wraith JE. Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia. 1994;49:1078\u201384.","journal-title":"Anaesthesia."},{"key":"1074_CR88","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1111\/j.1460-9592.2012.03825.x","volume":"22","author":"G Frawley","year":"2012","unstructured":"Frawley G, Fuenzalida D, Donath S, Yaplito-Lee J, Peters H. A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses. Paediatr Anaesth. 2012;22:737\u201344.","journal-title":"Paediatr Anaesth"},{"key":"1074_CR89","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1111\/j.1460-9592.2012.03904.x","volume":"22","author":"MC Theroux","year":"2012","unstructured":"Theroux MC, Nerker T, Ditro C, Mackenzie WG. Anesthetic care and perioperative complications of children with Morquio syndrome. Paediatr Anaesth. 2012;22:901\u20137.","journal-title":"Paediatr Anaesth"},{"key":"1074_CR90","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1007\/BF03010548","volume":"35","author":"IA Herrick","year":"1988","unstructured":"Herrick IA, Rhine EJ. The mucopolysaccharidoses and anaesthesia: a report of clinical experience. Can J Anaesth. 1988;35:67\u201373.","journal-title":"Can J Anaesth"},{"key":"1074_CR91","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1007\/s12630-014-0247-1","volume":"62","author":"JC Drummond","year":"2015","unstructured":"Drummond JC, Krane EJ, Tomatsu S, Theroux MC, Lee RR. Paraplegia after epidural-general anesthesia in a Morquio patient with moderate thoracic spinal stenosis. Can J Anaesth. 2015;62:45\u20139.","journal-title":"Can J Anaesth"},{"key":"1074_CR92","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1034\/j.1399-6576.1999.430614.x","volume":"43","author":"HJ Bartz","year":"1999","unstructured":"Bartz HJ, Wiesner L, Wappler F. Anaesthetic management of patients with mucopolysaccharidosis IV presenting for major orthopaedic surgery. Acta Anaesthesiol Scand. 1999;43:679\u201383.","journal-title":"Acta Anaesthesiol Scand"},{"key":"1074_CR93","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1007\/s00540-010-0963-9","volume":"24","author":"L Geetha","year":"2010","unstructured":"Geetha L, Radhakrishnan M, Raghavendra BS, Rao GS, Indira DB. Anesthetic management for foramen magnum decompression in a patient with Morquio syndrome: a case report. J Anesth. 2010;24:594\u20137.","journal-title":"J Anesth"},{"key":"1074_CR94","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1046\/j.1460-9592.2003.00969.x","volume":"13","author":"RW Walker","year":"2003","unstructured":"Walker RW, Colovic V, Robinson DN, Dearlove OR. Postobstructive pulmonary oedema during anaesthesia in children with mucopolysaccharidoses. Paediatr Anaesth. 2003;13:441\u20137.","journal-title":"Paediatr Anaesth"},{"key":"1074_CR95","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1046\/j.1460-9592.1997.d01-102.x","volume":"7","author":"RW Walker","year":"1997","unstructured":"Walker RW, Allen DL, Rothera MR. A fibreoptic intubation technique for children with mucopolysaccharidoses using the laryngeal mask airway. Paediatr Anaesth. 1997;7:421\u20136.","journal-title":"Paediatr Anaesth"},{"key":"1074_CR96","doi-asserted-by":"publisher","first-page":"e329","DOI":"10.1016\/j.athoracsur.2016.02.113","volume":"102","author":"C Pizarro","year":"2016","unstructured":"Pizarro C, Davies RR, Theroux M, Spurrier EA, Averill LW, Tomatsu S. Surgical reconstruction for severe tracheal obstruction in Morquio a syndrome. Ann Thorac Surg. 2016;102:e329\u201331.","journal-title":"Ann Thorac Surg"},{"key":"1074_CR97","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1034\/j.1600-0455.2002.430108.x","volume":"43","author":"SL Shih","year":"2002","unstructured":"Shih SL, Lee YJ, Lin SP, Sheu CY, Blickman JG. Airway changes in children with mucopolysaccharidoses. Acta Radiol. 2002;43:40\u20133.","journal-title":"Acta Radiol"},{"key":"1074_CR98","doi-asserted-by":"publisher","first-page":"608","DOI":"10.3171\/2012.2.PEDS11522","volume":"9","author":"CK Tong","year":"2012","unstructured":"Tong CK, Chen JC, Cochrane DD. Spinal cord infarction remote from maximal compression in a patient with Morquio syndrome. J Neurosurg Pediatr. 2012;9:608\u201312.","journal-title":"J Neurosurg Pediatr"},{"key":"1074_CR99","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/j.ymgme.2014.10.010","volume":"114","author":"J Charrow","year":"2015","unstructured":"Charrow J, Alden TD, Breathnach CA, Frawley GP, Hendriksz CJ, Link B, et al. Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Mol Genet Metab. 2015;114:11\u20138.","journal-title":"Mol Genet Metab"},{"key":"1074_CR100","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1007\/s11832-014-0601-4","volume":"8","author":"KK White","year":"2014","unstructured":"White KK, Jester A, Bache CE, Harmatz PR, Shediac R, Thacker MM, et al. Orthopedic management of the extremities in patients with Morquio a syndrome. J Child Orthop. 2014;8:295\u2013304.","journal-title":"J Child Orthop"},{"key":"1074_CR101","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1097\/BPO.0b013e318259fe57","volume":"32","author":"AA Dhawale","year":"2012","unstructured":"Dhawale AA, Thacker MM, Belthur MV, Rogers K, Bober MB, Mackenzie WG. The lower extremity in Morquio syndrome. J Pediatr Orthop. 2012;32:534\u201340.","journal-title":"J Pediatr Orthop"},{"issue":"Suppl 5","key":"1074_CR102","doi-asserted-by":"publisher","first-page":"v26","DOI":"10.1093\/rheumatology\/ker393","volume":"50","author":"KK White","year":"2011","unstructured":"White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl 5):v26\u201333.","journal-title":"Rheumatology (Oxford)"},{"key":"1074_CR103","doi-asserted-by":"publisher","first-page":"12","DOI":"10.5435\/JAAOS-21-01-12","volume":"21","author":"KK White","year":"2013","unstructured":"White KK, Sousa T. Mucopolysaccharide disorders in orthopaedic surgery. J Am Acad Orthop Surg. 2013;21:12\u201322.","journal-title":"J Am Acad Orthop Surg"},{"key":"1074_CR104","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1302\/1863-2548.11.170042","volume":"11","author":"N Williams","year":"2017","unstructured":"Williams N, Challoumas D, Eastwood DM. Does orthopaedic surgery improve quality of life and function in patients with mucopolysaccharidoses? J Child Orthop. 2017;11:289\u201397.","journal-title":"J Child Orthop"},{"key":"1074_CR105","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1097\/BPO.0000000000000464","volume":"36","author":"GA Cooper","year":"2016","unstructured":"Cooper GA, Southorn T, Eastwood DM, Bache CE. Lower extremity deformity management in MPS IVA, Morquio-Brailsford syndrome: preliminary report of Hemiepiphysiodesis correction of genu Valgum. J Pediatr Orthop. 2016;36:376\u201381.","journal-title":"J Pediatr Orthop"},{"key":"1074_CR106","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s004020050039","volume":"120","author":"MC de Waal Malefijt","year":"2000","unstructured":"de Waal Malefijt MC, van Kampen A, van Gemund JJ. Total knee arthroplasty in patients with inherited dwarfism--a report of five knee replacements in two patients with Morquio's disease type a and one with spondylo-epiphyseal dysplasia. Arch Orthop Trauma Surg. 2000;120:179\u201382.","journal-title":"Arch Orthop Trauma Surg"},{"key":"1074_CR107","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1302\/0301-620X.78B2.0780307","volume":"78","author":"AO Ransford","year":"1996","unstructured":"Ransford AO, Crockard HA, Stevens JM, Modaghegh S. Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experience. J Bone Joint Surg Br. 1996;78:307\u201313.","journal-title":"J Bone Joint Surg Br"},{"key":"1074_CR108","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/8904_2013_223","volume":"11","author":"C Mollmann","year":"2013","unstructured":"Mollmann C, Lampe CG, Muller-Forell W, Scarpa M, Harmatz P, Schwarz M, et al. Development of a scoring system to evaluate the severity of Craniocervical spinal cord compression in patients with Mucopolysaccharidosis IVA (Morquio a syndrome). JIMD Rep. 2013;11:65\u201372.","journal-title":"JIMD Rep."},{"key":"1074_CR109","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1016\/S0022-3476(69)80043-0","volume":"74","author":"ME Blaw","year":"1969","unstructured":"Blaw ME, Langer LO. Spinal cord compression in Morquio-Brailsford's disease. J Pediatr. 1969;74:593\u2013600.","journal-title":"J Pediatr"},{"key":"1074_CR110","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1016\/j.ymgme.2016.06.001","volume":"118","author":"GA Solanki","year":"2016","unstructured":"Solanki GA, Sun PP, Martin KW, Hendriksz CJ, Lampe C, Guffon N, et al. Cervical cord compression in mucopolysaccharidosis VI (MPS VI): findings from the MPS VI clinical surveillance program (CSP). Mol Genet Metab. 2016;118:310\u20138.","journal-title":"Mol Genet Metab"},{"key":"1074_CR111","doi-asserted-by":"publisher","first-page":"E539","DOI":"10.1097\/00007632-200112010-00020","volume":"26","author":"SS Dalvie","year":"2001","unstructured":"Dalvie SS, Noordeen MH, Vellodi A. Anterior instrumented fusion for thoracolumbar kyphosis in mucopolysaccharidosis. Spine (Phila Pa 1976). 2001;26:E539\u201341.","journal-title":"Spine (Phila Pa 1976)"},{"key":"1074_CR112","doi-asserted-by":"publisher","first-page":"2751","DOI":"10.1007\/s00586-014-3186-1","volume":"23","author":"E Garrido","year":"2014","unstructured":"Garrido E, Tome-Bermejo F, Adams CI. Combined spinal arthrodesis with instrumentation for the management of progressive thoracolumbar kyphosis in children with mucopolysaccharidosis. Eur Spine J. 2014;23:2751\u20137.","journal-title":"Eur Spine J"},{"key":"1074_CR113","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.2106\/JBJS.J.01135","volume":"95","author":"O Dede","year":"2013","unstructured":"Dede O, Thacker MM, Rogers KJ, Oto M, Belthur MV, Baratela W, et al. Upper cervical fusion in children with Morquio syndrome: intermediate to long-term results. J Bone Joint Surg Am. 2013;95:1228\u201334.","journal-title":"J Bone Joint Surg Am"},{"key":"1074_CR114","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.survophthal.2005.11.007","volume":"51","author":"JL Ashworth","year":"2006","unstructured":"Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye. Surv Ophthalmol. 2006;51:1\u201317.","journal-title":"Surv Ophthalmol"},{"key":"1074_CR115","doi-asserted-by":"publisher","first-page":"1633","DOI":"10.2147\/OPTH.S78368","volume":"9","author":"CR Fenzl","year":"2015","unstructured":"Fenzl CR, Teramoto K, Moshirfar M. Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses. Clin Ophthalmol. 2015;9:1633\u201344.","journal-title":"Clin Ophthalmol"},{"key":"1074_CR116","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1001\/archophthalmol.2010.341","volume":"129","author":"ED Bothun","year":"2011","unstructured":"Bothun ED, Decanini A, Summers CG, Orchard PJ, Tolar J. Outcome of penetrating keratoplasty for mucopolysaccharidoses. Arch Ophthalmol. 2011;129:138\u201344.","journal-title":"Arch Ophthalmol"},{"key":"1074_CR117","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1136\/bjophthalmol-2016-308807","volume":"101","author":"KL Ohden","year":"2017","unstructured":"Ohden KL, Pitz S, Ashworth J, Magalhaes A, Marinho DR, Lindahl P, et al. Outcomes of keratoplasty in the mucopolysaccharidoses: an international perspective. Br J Ophthalmol. 2017;101:909\u201312.","journal-title":"Br J Ophthalmol"},{"key":"1074_CR118","doi-asserted-by":"crossref","unstructured":"Keane M, Coster D, Ziaei M, Williams K. Deep anterior lamellar keratoplasty versus penetrating keratoplasty for treating keratoconus. Cochrane Database Syst Rev. 2014:CD009700.","DOI":"10.1002\/14651858.CD009700.pub2"},{"key":"1074_CR119","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1007\/s10545-011-9359-8","volume":"34","author":"EA Braunlin","year":"2011","unstructured":"Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34:1183\u201397.","journal-title":"J Inherit Metab Dis"},{"key":"1074_CR120","doi-asserted-by":"publisher","first-page":"2739","DOI":"10.1093\/eurheartj\/ehx391","volume":"38","author":"H Baumgartner","year":"2017","unstructured":"Baumgartner H, Falk V, Bax JJ, De Bonis M, Hamm C, Holm PJ, et al. 2017 ESC\/EACTS guidelines for the management of valvular heart disease. Eur Heart J. 2017;38:2739\u201391.","journal-title":"Eur Heart J"},{"key":"1074_CR121","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1016\/j.jacc.2017.03.011","volume":"70","author":"RA Nishimura","year":"2017","unstructured":"Nishimura RA, Otto CM, Bonow RO, Carabello BA, Erwin JP 3rd, Fleisher LA, et al. 2017 AHA\/ACC focused update of the 2014 AHA\/ACC guideline for the Management of Patients with Valvular Heart Disease: a report of the American College of Cardiology\/American Heart Association task force on clinical practice guidelines. J Am Coll Cardiol. 2017;70:252\u201389.","journal-title":"J Am Coll Cardiol"},{"key":"1074_CR122","first-page":"839","volume":"15","author":"MO Barry","year":"2006","unstructured":"Barry MO, Beardslee MA, Braverman AC. Morquio's syndrome: severe aortic regurgitation and late pulmonary autograft failure. J Heart Valve Dis. 2006;15:839\u201342.","journal-title":"J Heart Valve Dis"},{"key":"1074_CR123","first-page":"267","volume":"33","author":"M Mesolella","year":"2013","unstructured":"Mesolella M, Cimmino M, Cantone E, Marino A, Cozzolino M, Della Casa R, et al. Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. Acta Otorhinolaryngol Ital. 2013;33:267\u201372.","journal-title":"Acta Otorhinolaryngol Ital"},{"key":"1074_CR124","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1001\/archotol.1977.00780260048003","volume":"103","author":"ED Riedner","year":"1977","unstructured":"Riedner ED, Levin LS. Hearing patterns in Morquio's syndrome (mucopolysaccharidosis IV). Arch Otolaryngol. 1977;103:518\u201320.","journal-title":"Arch Otolaryngol"},{"key":"1074_CR125","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1016\/j.ijporl.2014.03.021","volume":"78","author":"B Gonuldas","year":"2014","unstructured":"Gonuldas B, Yilmaz T, Sivri HS, Gucer KS, Kilinc K, Genc GA, et al. Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway. Int J Pediatr Otorhinolaryngol. 2014;78:944\u20139.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1074_CR126","doi-asserted-by":"publisher","first-page":"1526","DOI":"10.1016\/j.ijporl.2014.06.027","volume":"78","author":"SS Sudarsan","year":"2014","unstructured":"Sudarsan SS, Paramasivan VK, Arumugam SV, Murali S, Kameswaran M. Comparison of treatment modalities in syndromic children with obstructive sleep apnea--a randomized cohort study. Int J Pediatr Otorhinolaryngol. 2014;78:1526\u201333.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1074_CR127","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1097\/ALN.0b013e31827773b2","volume":"118","author":"JL Apfelbaum","year":"2013","unstructured":"Apfelbaum JL, Hagberg CA, Caplan RA, Blitt CD, Connis RT, Nickinovich DG, et al. Practice guidelines for management of the difficult airway: an updated report by the American Society of Anesthesiologists Task Force on Management of the Difficult Airway. Anesthesiology. 2013;118:251\u201370.","journal-title":"Anesthesiology."},{"key":"1074_CR128","doi-asserted-by":"publisher","first-page":"S1","DOI":"10.1177\/0194599811409837","volume":"145","author":"PS Roland","year":"2011","unstructured":"Roland PS, Rosenfeld RM, Brooks LJ, Friedman NR, Jones J, Kim TW, et al. Clinical practice guideline: polysomnography for sleep-disordered breathing prior to tonsillectomy in children. Otolaryngol Head Neck Surg. 2011;145:S1\u201315.","journal-title":"Otolaryngol Head Neck Surg"},{"key":"1074_CR129","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.ejim.2016.05.017","volume":"34","author":"J Mitchell","year":"2016","unstructured":"Mitchell J, Berger KI, Borgo A, Braunlin EA, Burton BK, Ghotme KA, et al. Unique medical issues in adult patients with mucopolysaccharidoses. Eur J Intern Med. 2016;34:2\u201310.","journal-title":"Eur J Intern Med"},{"key":"1074_CR130","first-page":"e169","volume":"120","author":"LA Fleisher","year":"2009","unstructured":"Fleisher LA, Beckman JA, Brown KA, Calkins H, Chaikof EL, Fleischmann KE, et al. 2009 ACCF\/AHA focused update on perioperative beta blockade incorporated into the ACC\/AHA 2007 guidelines on perioperative cardiovascular evaluation and care for noncardiac surgery: a report of the American college of cardiology foundation\/American heart association task force on practice guidelines. Circulation. 2009;120:e169\u2013276.","journal-title":"Circulation."},{"key":"1074_CR131","doi-asserted-by":"publisher","first-page":"e1058463","DOI":"10.1080\/21675511.2015.1058463","volume":"3","author":"M Pai","year":"2015","unstructured":"Pai M, Iorio A, Meerpohl J, Taruscio D, Laricchiuta P, Mincarone P, et al. Developing methodology for the creation of clinical practice guidelines for rare diseases: A report from RARE-Bestpractices. Rare Dis. 2015;3:e1058463.","journal-title":"Rare Dis"},{"key":"1074_CR132","doi-asserted-by":"publisher","first-page":"1285","DOI":"10.1185\/03007990902892633","volume":"25","author":"M Schlander","year":"2009","unstructured":"Schlander M, Beck M. Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI. Curr Med Res Opin. 2009;25:1285\u201393.","journal-title":"Curr Med Res Opin"},{"key":"1074_CR133","unstructured":"NICE. National Institute for Health and Care Excellence. Managed Access Agreement Elosulfase alfa for treating mucopolysaccharidosis type IVa. 2015. https:\/\/www.nice.org.uk\/guidance\/hst2\/resources\/managed-access-agreement-december-2015-pdf-2238935869 . Accessed 25 June 2018."},{"key":"1074_CR134","first-page":"19","volume":"24","author":"S Tomatsu","year":"2014","unstructured":"Tomatsu S, Kubaski F, Sawamoto K, Mason RW, Yasuda E, Shimada T, et al. Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry. Nihon Masu Sukuriningu Gakkai Shi. 2014;24:19\u201337.","journal-title":"Nihon Masu Sukuriningu Gakkai Shi"},{"key":"1074_CR135","doi-asserted-by":"publisher","first-page":"1118","DOI":"10.1373\/clinchem.2016.269167","volume":"63","author":"Y Liu","year":"2017","unstructured":"Liu Y, Yi F, Kumar AB, Kumar Chennamaneni N, Hong X, Scott CR, et al. Multiplex tandem mass spectrometry enzymatic activity assay for newborn screening of the Mucopolysaccharidoses and type 2 neuronal ceroid Lipofuscinosis. Clin Chem. 2017;63:1118\u201326.","journal-title":"Clin Chem"},{"key":"1074_CR136","doi-asserted-by":"publisher","first-page":"1805","DOI":"10.1016\/j.cca.2011.06.001","volume":"412","author":"MV Camelier","year":"2011","unstructured":"Camelier MV, Burin MG, De Mari J, Vieira TA, Marasca G, Giugliani R. Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio syndrome type a) in dried blood samples. Clin Chim Acta. 2011;412:1805\u20138.","journal-title":"Clin Chim Acta"},{"key":"1074_CR137","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1016\/j.ymgmr.2014.10.005","volume":"1","author":"AJ Ullal","year":"2014","unstructured":"Ullal AJ, Millington DS, Bali DS. Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots. Mol Genet Metab Rep. 2014;1:465\u20137.","journal-title":"Mol Genet Metab Rep."},{"key":"1074_CR138","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1016\/j.ymgmr.2014.10.004","volume":"1","author":"AJ Ullal","year":"2014","unstructured":"Ullal AJ, Millington DS, Bali DS. Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type a) using dried blood spots. Mol Genet Metab Rep. 2014;1:461\u20134.","journal-title":"Mol Genet Metab Rep."},{"key":"1074_CR139","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/j.cca.2015.08.010","volume":"451","author":"AB Kumar","year":"2015","unstructured":"Kumar AB, Spacil Z, Ghomashchi F, Masi S, Sumida T, Ito M, et al. Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI. Clin Chim Acta. 2015;451:125\u20138.","journal-title":"Clin Chim Acta"},{"key":"1074_CR140","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1373\/clinchem.2015.242560","volume":"61","author":"AB Kumar","year":"2015","unstructured":"Kumar AB, Masi S, Ghomashchi F, Chennamaneni NK, Ito M, Scott CR, et al. Tandem mass spectrometry has a larger analytical range than fluorescence assays of lysosomal enzymes: application to newborn screening and diagnosis of Mucopolysaccharidoses types II, IVA, and VI. Clin Chem. 2015;61:1363\u201371.","journal-title":"Clin Chem"},{"issue":"3","key":"1074_CR141","doi-asserted-by":"publisher","first-page":"23","DOI":"10.3390\/ijns4030023","volume":"4","author":"Michael Gelb","year":"2018","unstructured":"Gelb M. Newborn screening for lysosomal storage diseases: methodologies, screen positive rates, normalization of datasets, second-tier tests, and post-analysis tools. Int J Neonatal Screening. 2018;4.","journal-title":"International Journal of Neonatal Screening"},{"key":"1074_CR142","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1016\/j.clinthera.2014.11.005","volume":"37","author":"B Schweighardt","year":"2015","unstructured":"Schweighardt B, Tompkins T, Lau K, Jesaitis L, Qi Y, Musson DG, et al. Immunogenicity of Elosulfase alfa, an enzyme replacement therapy in patients with Morquio a syndrome: results from MOR-004, a phase III trial. Clin Ther. 2015;37:1012\u201321 e6.","journal-title":"Clin Ther"},{"key":"1074_CR143","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1016\/j.clinthera.2016.11.017","volume":"39","author":"B Long","year":"2017","unstructured":"Long B, Tompkins T, Decker C, Jesaitis L, Khan S, Slasor P, et al. Long-term immunogenicity of Elosulfase alfa in the treatment of Morquio a syndrome: results from MOR-005, a phase III extension study. Clin Ther. 2017;39:118\u201329 e3.","journal-title":"Clin Ther"},{"key":"1074_CR144","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1016\/j.ymgme.2017.06.001","volume":"122","author":"S Kim","year":"2017","unstructured":"Kim S, Whitley CB, Jarnes Utz JR. Correlation between urinary GAG and anti-idursulfase ERT neutralizing antibodies during treatment with NICIT immune tolerance regimen: a case report. Mol Genet Metab. 2017;122:92\u20139.","journal-title":"Mol Genet Metab"},{"key":"1074_CR145","doi-asserted-by":"publisher","first-page":"e54459","DOI":"10.1371\/journal.pone.0054459","volume":"8","author":"EH Schuchman","year":"2013","unstructured":"Schuchman EH, Ge Y, Lai A, Borisov Y, Faillace M, Eliyahu E, et al. Pentosan polysulfate: a novel therapy for the mucopolysaccharidoses. PLoS One. 2013;8:e54459.","journal-title":"PLoS One"},{"key":"1074_CR146","doi-asserted-by":"publisher","first-page":"S42","DOI":"10.1016\/j.ymgme.2017.12.093","volume":"123","author":"EV Entchev","year":"2018","unstructured":"Entchev EV, Jantzen I, Gawronski X, Feraille L, Luccarini J-M, Abitbol J-L, et al. Odiparcil is a promising substrate reduction therapy in MPS VI murine model. Mol Genet Metab. 2018;123:S42 abstract 84.","journal-title":"Mol Genet Metab"},{"key":"1074_CR147","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1016\/j.ymgme.2016.01.012","volume":"117","author":"LE Polgreen","year":"2016","unstructured":"Polgreen LE, Vehe RK, Rudser K, Kunin-Batson A, Utz JJ, Dickson P, et al. Elevated TNF-alpha is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI. Mol Genet Metab. 2016;117:427\u201330.","journal-title":"Mol Genet Metab"},{"key":"1074_CR148","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1186\/s13023-016-0503-2","volume":"11","author":"CJ Hendriksz","year":"2016","unstructured":"Hendriksz CJ, Berger KI, Lampe C, Kircher SG, Orchard PJ, Southall R, et al. Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues. Orphanet J Rare Dis. 2016;11:119.","journal-title":"Orphanet J Rare Dis."}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-019-1074-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13023-019-1074-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-019-1074-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T17:57:56Z","timestamp":1721411876000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-019-1074-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,13]]},"references-count":148,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["1074"],"URL":"https:\/\/doi.org\/10.1186\/s13023-019-1074-9","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,13]]},"assertion":[{"value":"10 December 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 April 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 June 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"C Hendriksz; is Owner and Director of FYMCA Medical Ltd.; has conducted consultancy work for Actelion, Amicus, Alexion, Audentes, BioMarin Pharmaceutical Inc., Chiesi, Evidera, Inventiva, GSK, SOBI, Health Care at Home, Sanofi Genzyme, Shire. P Harmatz has conducted consultancy work and\/or has received grant support from Alexion, Armagen, BioMarin Pharmaceutical Inc., Chiesi, Denali, Genzyme, Enzyvant, Inventiva, JCR Pharmaceuticals, Orphazyme, Pfizer, PTC Therapeutics, RegenXbio, Sangamo, Shire, SOBI and Ultragenyx. R Giugliani has received consultancy fees, and\/or investigator fees, and\/or speaker honoraria and\/or travel grants to attend scientific meetings from Actelion, Amicus, Armagen, BioMarin, Chiesi, GC Pharma, Inventiva, JCR Pharmaceuticals, Lysogene, RegenxBio, Sanofi Genzyme, Shire, Sobi, and Ultragenyx. M Scarpa has received honoraria, research and travel grants from Alexion, BioMarin Pharmaceutical Inc., Chiesi, Sanofi Genzyme, Shire, Ultragenix and Sangamo. MU Akyol has received speaker honoraria and travel grants from Shire. J Ashworth has received honoraria, travel expenses and a research grant from BioMarin Pharmaceutical Inc. and has received consultancy fees from AbbVie and Inventiva. T Alden has received consultant and honoraria payments from BioMarin Pharmaceutical Inc. and Shire. K Belani was a co-investigator on several studies funded by grants from Lysogene and Shire and has received a travel grant from BioMarin Pharmaceutical Inc. for attendance at an advisory meeting. H Amartino has conducted investigator, speaker and consultant work for Amicus, BioMarin Pharmaceutical Inc., Bluebird Bio, Sanofi Genzyme and Shire. K Berger has received consultancy and honoraria payments from BioMarin Pharmaceutical Inc. and Sanofi Genzyme. Andrea Borgo has received travel grants and honoraria from BioMarin Pharmaceutical Inc., and honoraria from Brains for Brains and Shire. E Braunlin has received speaker and travel grants from BioMarin Pharmaceutical Inc. and Sanofi Genzyme, a research funding from BioMarin Pharmaceutical Inc. and Bluebird Bio and has conducted consultancy work for Ultragenyx. Y Eto has received research grants and honoraria from BioMarin Pharmaceutical Inc., Alexion Pharmaceutical Inc., Sanofi Genzym and Actelion Pharmaceuticals Ltd., and honoraria from Dainippon Sumitomo Inc., Japan Chemical Research and Shire Japan. JI Gold has received honoraria and travel grants from BioMarin Pharmaceutical Inc. A Jester has received honoraria, travel grants, and research funding from BioMarin Pharmaceutical Inc. and funding from Shire for equipment to conduct outcomes assessment. S Jones has conducted investigator, speaker and consultancy work for Alexion, BioMarin Pharmaceutical Inc., Orchard therapeutics, Sanofi Genzyme, Shire and Ultragenyx. C Karsli has nothing to disclose. W MacKenzie has received travel grants and honoraria from BioMarin Pharmaceutical Inc. and has conducted consultancy work for Johnson & Johnson. A McFadyen has received unrestricted educational grants from Alexion, BioMarin Pharmaceutical Inc., Sanofi Genzyme, Shire, and Johnson and Johnson. J McGill has conducted speaker, consultancy, board member work and received travel grants from Actelion, BioMarin Pharmaceutical Inc., Sanofi Genzyme and Shire. He has been an investigator for BioMarin Pharmaceutical Inc. J Mitchell has received research support, advisory board fees, and travel grants from BioMarin Pharmaceutical Inc. and has been involved in the conduct of BioMarin clinical trials. He has also received research funding from Sanofi Genzyme and Shire. He has received consultancy fees from Ultragenyx, BioMarin Pharmaceutical Inc., Sanofi Genzyme and Shire. J Muenzer has conducted consultancy work and\/or has received grant support from BioMarin Pharmaceutical Inc., Denali, Green Cross, Eloxx, PTC Therapeutics, RegenXbio, Sangamo, Sanofi Genzyme, Shire and Sobi. T Okuyama has received research grants from BioMarin Pharmaceutical Inc., Green Cross, Sanofi Genzyme, Shire, Orchard Therapeutics, and JCR, and has attended advisory boards for Sanofi Genzyme. He is Principal Investigator for ERT clinical trials for MPS II sponsored by Green Cross and JCR. P Orchard has received honoraria, travel and research support from Sanofi Genzyme, and has received research support from BioMarin Pharmaceutical Inc., Bluebird Bio and Horizon Pharma. B Stevens has received grants for the MPS Society from Sanofi Genzyme, Shire, Sangamo, Regenxbio, BioMarin Pharmaceuticals Inc. and Ultragenyx for direct advocacy, expert meetings, literature and travel. S Thomas has received grants for the MPS Society from Sanofi Genzyme, Shire, Sangamo, Regenxbio, BioMarin Pharmaceuticals Inc., Chiesi and Ultragenyx for direct advocacy, expert meetings, honoraria, literature and travel. DR Marinho has received honoraria and travel grants from BioMarin Pharmaceutical Inc. R Walker has received travel grants, honorarium and payments for consulting work from BioMarin Pharmaceutical Inc., Sanofi Genzyme and Shire. R Wynn has conducted consultancy work for Chimerix, Bluebird Bio and Orchard Therapeutics.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"137"}}