{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:05:09Z","timestamp":1762430709972},"reference-count":37,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1016\/j.ymgme.2013.02.013","type":"journal-article","created":{"date-parts":[[2013,3,4]],"date-time":"2013-03-04T17:47:49Z","timestamp":1362419269000},"page":"70-76","source":"Crossref","is-referenced-by-count":34,"title":["Up to five years experience with 11 mucopolysaccharidosis type VI patients"],"prefix":"10.1016","volume":"109","author":[{"given":"Marion M.M.G.","family":"Brands","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esmee","family":"Oussoren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George J.G.","family":"Ruijter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey A.M.","family":"Vollebregt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannerieke M.P.","family":"van den Hout","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koen F.M.","family":"Joosten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wim C.J.","family":"Hop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iris","family":"Plug","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ans T.","family":"van der Ploeg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2013.02.013_bb0005","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in The Netherlands","volume":"105","author":"Poorthuis","year":"1999","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0010","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1750-1172-5-5","article-title":"Mucopolysaccharidosis VI","volume":"5","author":"Valayannopoulos","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0015","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3421","article-title":"The Mucopolysaccharidoses","author":"Neufeld","year":"2001"},{"key":"10.1016\/j.ymgme.2013.02.013_bb0020","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1542\/peds.2006-2184","article-title":"Management guidelines for mucopolysaccharidosis VI","volume":"120","author":"Giugliani","year":"2007","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2013.02.013_bb0025","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/ajmg.a.30579","article-title":"Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)","volume":"134A","author":"Swiedler","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2013.02.013_bb0030","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s10545-009-9007-8","article-title":"Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase","volume":"33","author":"Harmatz","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0035","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.ymgme.2008.04.001","article-title":"Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase","volume":"94","author":"Harmatz","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0040","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.jpeds.2005.12.014","volume":"148","author":"Harmatz","year":"2006","journal-title":"J. Pediatr."},{"year":"2007","series-title":"The AASM Manual for the Scoring of Sleep and Associated Events: Rules, Terminology and Technical Specifications","author":"Iber","key":"10.1016\/j.ymgme.2013.02.013_bb0045"},{"key":"10.1016\/j.ymgme.2013.02.013_bb0050","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1136\/heart.83.6.667","article-title":"Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe","volume":"83","author":"Kampmann","year":"2000","journal-title":"Heart"},{"key":"10.1016\/j.ymgme.2013.02.013_bb0055","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00246-006-0101-5","article-title":"Left ventricular mass in 169 healthy children and young adults assessed by three-dimensional echocardiography","volume":"28","author":"Poutanen","year":"2007","journal-title":"Pediatr. Cardiol."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0060","unstructured":"A. Goodman, Reference zero levels for pure-tone audiometers. (1965) 262-263."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0065","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1093\/clinchem\/38.6.803","article-title":"Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue","volume":"38","author":"de Jong","year":"1992","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0070","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1023\/A:1008848218806","article-title":"Measuring health-related quality of life in children: the development of the TACQOL parent form","volume":"7","author":"Vogels","year":"1998","journal-title":"Qual. Life Res."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0075","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1023\/A:1008981603178","article-title":"Development and psychometric evaluation of the TAPQOL: a health-related quality of life instrument for 1-5-year-old children","volume":"9","author":"Fekkes","year":"2000","journal-title":"Qual. Life Res."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0080","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/s10545-011-9444-z","article-title":"Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI","volume":"36","author":"Brands","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0085","doi-asserted-by":"crossref","first-page":"e681","DOI":"10.1542\/peds.2004-1023","volume":"115","author":"Harmatz","year":"2005","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2013.02.013_bb0090","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1080\/08035320510028139","article-title":"Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I\/II study","volume":"94","author":"Harmatz","year":"2005","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0095","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s10545-010-9233-0","article-title":"Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan","volume":"36","author":"Lin","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0100","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.jpeds.2004.03.018","article-title":"Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)","volume":"144","author":"Harmatz","year":"2004","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0105","article-title":"Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)","author":"Hendriksz","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0110","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1056\/NEJM200101183440304","article-title":"Enzyme-replacement therapy in mucopolysaccharidosis I","author":"Kakkis","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0115","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1016\/S0140-6736(94)90462-6","article-title":"Enzyme replacement treatment in type 1 and type 3 Gaucher's disease","volume":"344","author":"Bembi","year":"1994","journal-title":"Lancet"},{"key":"10.1016\/j.ymgme.2013.02.013_bb0120","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1007\/s00431-008-0910-z","article-title":"Mucopolysaccharidosis VI: the Italian experience","volume":"168","author":"Scarpa","year":"2009","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0125","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1016\/j.bbadis.2011.07.013","article-title":"Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options","volume":"1812","author":"Oussoren","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"issue":"Suppl. 5","key":"10.1016\/j.ymgme.2013.02.013_bb0130","doi-asserted-by":"crossref","first-page":"v26","DOI":"10.1093\/rheumatology\/ker393","article-title":"Orthopaedic aspects of mucopolysaccharidoses","volume":"50","author":"White","year":"2011","journal-title":"Rheumatology (Oxford)"},{"key":"10.1016\/j.ymgme.2013.02.013_bb0135","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.1002\/ajmg.a.33902","article-title":"Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI","volume":"155A","author":"John","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2013.02.013_bb0140","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0165-5876(01)00417-7","article-title":"Disordered breathing during sleep in patients with mucopolysaccharidoses","volume":"58","author":"Leighton","year":"2001","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0145","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1002\/ppul.21309","article-title":"Polysomnographic characteristics in patients with mucopolysaccharidoses","volume":"45","author":"Lin","year":"2010","journal-title":"Pediatr. Pulmonol."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0150","article-title":"Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme((R))) therapy","author":"Braunlin","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0155","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1098\/rstb.2007.2125","article-title":"Heart valve macro- and microstructure","volume":"362","author":"Misfeld","year":"2007","journal-title":"Philos.Trans. R. Soc. Lond. B: Biol. Sci."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0160","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.pediatrneurol.2011.05.010","article-title":"Hunter disease before and during enzyme replacement therapy","volume":"45","author":"Hoffmann","year":"2011","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0165","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/j.ijporl.2005.01.017","article-title":"Otorhinolaryngological manifestations of the mucopolysaccharidoses","volume":"69","author":"Simmons","year":"2005","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0170","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1002\/ajmg.a.35498","article-title":"Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II","volume":"158A","author":"Hong","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2013.02.013_bb0175","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0378-5955(02)00341-6","article-title":"Inner ear pathology in the mucopolysaccharidosis VII mouse","volume":"169","author":"Ohlemiller","year":"2002","journal-title":"Hear Res."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0180","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1111\/j.1651-2227.2009.01269.x","article-title":"Predicting health-related quality of life of parents of children with inherited metabolic diseases","volume":"98","author":"Hatzmann","year":"2009","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.ymgme.2013.02.013_bb0185","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1542\/peds.2007-3847","article-title":"Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I","volume":"123","author":"Clarke","year":"2009","journal-title":"Pediatrics"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719213000711?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719213000711?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T00:42:33Z","timestamp":1595464953000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719213000711"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["S1096719213000711"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2013.02.013","relation":{},"ISSN":["1096-7192"],"issn-type":[{"type":"print","value":"1096-7192"}],"subject":[],"published":{"date-parts":[[2013,5]]}}}