{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T07:20:27Z","timestamp":1787728827856,"version":"build-2784847793"},"reference-count":152,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T00:00:00Z","timestamp":1639526400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007479","name":"Fondazione Cassa di Risparmio di Padova e Rovigo","doi-asserted-by":"publisher","award":["17\/06_1FCR"],"award-info":[{"award-number":["17\/06_1FCR"]}],"id":[{"id":"10.13039\/100007479","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mucopolysaccharidosis type VI, or Maroteaux\u2013Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affecting the pediatric age group. The disease is due to pathogenic variants of the ARSB gene, coding for the lysosomal hydrolase N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). The enzyme deficit causes a pathological accumulation of the undegraded glycosaminoglycans dermatan-sulphate and chondroitin-sulphate, natural substrates of ASB activity. Intracellular and extracellular deposits progressively take to a pathological scenario, often severe, involving most organ-systems and generally starting from the osteoarticular apparatus. Neurocognitive and behavioral abilities, commonly described as maintained, have been actually investigated by few studies. The disease, first described in 1963, has a reported prevalence between 0.36 and 1.3 per 100,000 live births across the continents. With this paper, we wish to contribute an updated overview of the disease from the clinical, diagnostic, and therapeutic sides. The numerous in vitro and in vivo preclinical studies conducted in the last 10\u201315 years to dissect the disease pathogenesis, the efficacy of the available therapeutic treatment (enzyme replacement therapy), as well as new therapies under study are here described. This review also highlights the need to identify new disease biomarkers, potentially speeding up the diagnostic process and the monitoring of therapeutic efficacy.<\/jats:p>","DOI":"10.3390\/ijms222413456","type":"journal-article","created":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T09:02:19Z","timestamp":1639558939000},"page":"13456","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Mucopolysaccharidosis Type VI, an Updated Overview of the Disease"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2790-6481","authenticated-orcid":false,"given":"Francesca","family":"D\u2019Avanzo","sequence":"first","affiliation":[{"name":"Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"},{"name":"Fondazione Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4120-6262","authenticated-orcid":false,"given":"Alessandra","family":"Zanetti","sequence":"additional","affiliation":[{"name":"Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"},{"name":"Fondazione Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9001-1007","authenticated-orcid":false,"given":"Concetta","family":"De Filippis","sequence":"additional","affiliation":[{"name":"Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"},{"name":"Fondazione Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3346-9900","authenticated-orcid":false,"given":"Rosella","family":"Tomanin","sequence":"additional","affiliation":[{"name":"Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women\u2019s and Children\u2019s Health, University of Padova, 35128 Padova, Italy"},{"name":"Fondazione Istituto di Ricerca Pediatrica Citt\u00e0 della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"385","DOI":"10.2741\/4490","article-title":"Mucopolysaccharidosis VI: Pathophysiology, diagnosis and treatment","volume":"22","author":"Harmatz","year":"2017","journal-title":"Front. Biosci. Landmark"},{"key":"ref_2","first-page":"1849","article-title":"A new dysostosis with urinary elimination of chondroitin sulfate B","volume":"71","author":"Maroteaux","year":"1963","journal-title":"Presse Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/S0022-3476(72)80467-0","article-title":"A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI)","volume":"80","author":"Baron","year":"1972","journal-title":"J. Pediatr."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s13353-014-0262-5","article-title":"Prevalence rates of mucopolysaccharidoses in Poland","volume":"56","author":"Jurecka","year":"2015","journal-title":"J. Appl. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"271","DOI":"10.4103\/0256-4947.65254","article-title":"Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983\u20132008","volume":"30","author":"Moammar","year":"2010","journal-title":"Ann. Saudi Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1159\/000358404","article-title":"A community-based study of mucopolysaccharidosis type VI in Brazil: The influence of founder effect, endogamy and consanguinity","volume":"77","author":"Bender","year":"2014","journal-title":"Hum. Hered."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"\u00c7elik, B., Tomatsu, S.C., Tomatsu, S., and Khan, S.A. (2021). Epidemiology of Mucopolysaccharidoses Update. Diagnostics, 11.","DOI":"10.3390\/diagnostics11020273"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.jpeds.2018.09.063","article-title":"Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI","volume":"205","author":"Chan","year":"2019","journal-title":"J. Pediatr."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s13023-020-1322-z","article-title":"Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns","volume":"15","author":"Chien","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.jpeds.2019.09.036","article-title":"Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100,000 Dried Blood Spots","volume":"216","author":"Scott","year":"2020","journal-title":"J. Pediatr."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"D884","DOI":"10.1093\/nar\/gkaa942","article-title":"Ensembl 2021","volume":"49","author":"Howe","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S0969-2126(97)00185-8","article-title":"Structure of a human lysosomal sulfatase","volume":"5","author":"Bond","year":"1997","journal-title":"Structure"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.ymgme.2007.11.017","article-title":"Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: Insight into mucopolysaccharidosis type VI","volume":"93","author":"Saito","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1021\/cb500897w","article-title":"Formylglycine, a post-translationally generated residue with unique catalytic capabilities and biotechnology applications","volume":"10","author":"Appel","year":"2015","journal-title":"ACS Chem. Biol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"D437","DOI":"10.1093\/nar\/gkaa1038","article-title":"RCSB Protein Data Bank: Powerful new tools for exploring 3D structures of biological macromolecules for basic and applied research and education in fundamental biology, biomedicine, biotechnology, bioengineering and energy sciences","volume":"49","author":"Burley","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"W431","DOI":"10.1093\/nar\/gkab314","article-title":"Mol* Viewer: Modern web app for 3D visualization and analysis of large biomolecular structures","volume":"49","author":"Sehnal","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1788","DOI":"10.1002\/humu.23613","article-title":"Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene","volume":"39","author":"Tomanin","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_18","first-page":"585","article-title":"Another Novel Missense Mutation in ARSB Gene in Iran","volume":"55","author":"Abbasi","year":"2017","journal-title":"Acta Med. Iran."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s12687-017-0329-1","article-title":"The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia","volume":"9","author":"Bouholaigah","year":"2018","journal-title":"J. Community Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"e20180658","DOI":"10.1542\/peds.2018-0658","article-title":"Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls","volume":"142","author":"Conboy","year":"2018","journal-title":"Pediatrics"},{"key":"ref_21","first-page":"100658","article-title":"A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis","volume":"25","author":"Chmura","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.gene.2019.04.050","article-title":"Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI","volume":"706","author":"Aminzadeh","year":"2019","journal-title":"Gene"},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Coutinho, M.F., Encarna\u00e7\u00e3o, M., Matos, L., Silva, L., Ribeiro, D., Santos, J.I., Jo\u00e3o Prata, M., Vilarinho, L., and Alves, S. (2020). Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity. Diagnostics, 10.","DOI":"10.3390\/diagnostics10020058"},{"key":"ref_24","first-page":"272","article-title":"A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients","volume":"10","year":"2020","journal-title":"Mol. Syndromol."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"He, M.F., Yang, J., Dong, M.J., Wang, Y.T., and Liu, H. (2021). Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: A case report. BMC Ophthalmol., 21.","DOI":"10.1186\/s12886-021-01979-3"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"3417","DOI":"10.1007\/s11033-019-04804-9","article-title":"Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI","volume":"46","author":"Jafaryazdi","year":"2019","journal-title":"Mol. Biol. Rep."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2954","DOI":"10.1002\/ajmg.a.38459","article-title":"Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey","volume":"173","author":"Dursun","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"e12872","DOI":"10.1097\/MD.0000000000012872","article-title":"Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report","volume":"97","author":"Guerrero","year":"2018","journal-title":"Medicine"},{"key":"ref_29","first-page":"950","article-title":"Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: Identification of three novel mutations in Iranian patients","volume":"21","author":"Malekpour","year":"2018","journal-title":"Iran. J. Basic Med. Sci."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s00439-017-1779-6","article-title":"The Human Gene Mutation Database: Towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies","volume":"136","author":"Stenson","year":"2017","journal-title":"Hum. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1101\/gr.118638.110","article-title":"Loss of exon identity is a common mechanism of human inherited disease","volume":"21","author":"Howard","year":"2011","journal-title":"Genome Res."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.omtm.2020.09.004","article-title":"A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI","volume":"19","author":"Broeders","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"3804","DOI":"10.1002\/ajmg.a.62453","article-title":"Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI)","volume":"185","author":"Eliyahu","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1007\/s00247-018-4139-3","article-title":"Mucopolysaccharidoses: Overview of neuroimaging manifestations","volume":"48","author":"AlSayed","year":"2018","journal-title":"Pediatr. Radiol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s10545-013-9645-8","article-title":"Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI","volume":"37","author":"Kantaputra","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"400","DOI":"10.24953\/turkjped.2018.04.007","article-title":"Oral health status in patients with mucopolysaccharidoses","volume":"60","author":"Eymirli","year":"2018","journal-title":"Turk. J. Pediatr."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.ymgme.2021.03.002","article-title":"The natural history of neurocognition in MPS disorders: A review","volume":"133","author":"Shapiro","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/s10545-015-9895-8","article-title":"Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome","volume":"39","author":"Ebbink","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_39","first-page":"27","article-title":"Association of somatic burden of disease with age and neuropsychological measures in attenuated mucopolysaccharidosis types I, II and VI","volume":"7","author":"Ahmed","year":"2016","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_40","first-page":"454","article-title":"Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Six unique arylsulfatase B gene alleles causing variable disease phenotypes","volume":"54","author":"Isbrandt","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"ref_41","unstructured":"Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., Childs, B., Kinzler, K.W., and Vogelstein, B. (2001). The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill. [8th ed.]."},{"key":"ref_42","first-page":"1","article-title":"Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)","volume":"18","author":"Quartel","year":"2015","journal-title":"JIMD Rep."},{"key":"ref_43","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":"ref_44","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":"ref_45","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.ymgme.2017.05.008","article-title":"A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI","volume":"121","author":"Oussoren","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_46","first-page":"156","article-title":"Corneal clouding in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)","volume":"7","author":"Stevenson","year":"1971","journal-title":"Birth Defects Orig Artic Ser."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1038\/sj.eye.6701921","article-title":"The ocular features of the mucopolysaccharidoses","volume":"20","author":"Ashworth","year":"2006","journal-title":"Eye"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1136\/bjo.2010.179937","article-title":"Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis","volume":"95","author":"Ferrari","year":"2011","journal-title":"Br. J. Ophthalmol."},{"key":"ref_49","first-page":"89","article-title":"Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase","volume":"3","author":"Decker","year":"2010","journal-title":"J. Pediatr. Rehabil. Med."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1002\/ajmg.a.36584","article-title":"Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study","volume":"164","author":"Giugliani","year":"2014","journal-title":"Am. J. Med. Genet. Part. A"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1007\/s10067-013-2423-z","article-title":"Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: A report of four patients and a review of the literature","volume":"33","author":"Jurecka","year":"2014","journal-title":"Clin. Rheumatol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.ymgme.2005.02.008","article-title":"An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum","volume":"85","author":"Brooks","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"ref_53","first-page":"71","article-title":"Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series","volume":"3","author":"Scarpa","year":"2010","journal-title":"J. Pediatr. Rehabil. Med."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.ymgme.2011.03.024","article-title":"Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene","volume":"103","author":"Gottwald","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1007\/s10545-012-9474-1","article-title":"Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: A case series","volume":"35","author":"Miebach","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s10545-011-9410-9","article-title":"Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)","volume":"36","author":"Hendriksz","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ymgme.2020.03.004","article-title":"Advances in glycosaminoglycan detection","volume":"130","author":"Khan","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Filocamo, M., Tomanin, R., Bertola, F., and Morrone, A. (2018). Biochemical and molecular analysis in mucopolysaccharidoses: What a paediatrician must know. Ital. J. Pediatr., 44.","DOI":"10.1186\/s13052-018-0553-2"},{"key":"ref_59","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":"ref_60","doi-asserted-by":"crossref","unstructured":"Akyol, M.U., Alden, T.D., Amartino, H., Ashworth, J., Belani, K., Berger, K.I., Borgo, A., Braunlin, E., Eto, Y., and Gold, J.I. (2019). Recommendations for the management of MPS VI: Systematic evidence- and consensus-based guidance. Orphanet J. Rare Dis., 14.","DOI":"10.1186\/s13023-019-1080-y"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13019-021-01530-x","article-title":"Double valve replacement in a patient with Maroteaux\u2014Lamy syndrome as an ultimate team challenge","volume":"16","author":"Demis","year":"2021","journal-title":"J. Cardiothorac. Surg."},{"key":"ref_62","unstructured":"Biomarin (2021, September 28). Naglazyme\u00ae (Galsulfase) for MPS VI. Available online: https:\/\/www.biomarin.com\/our-treatments\/products\/naglazyme-galsulfase-for-mps-vi\/."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1042\/bj2840789","article-title":"Correction of human mucopolysaccharidosis type-VI fibroblastsWith recombinant N-acetylgalactosamine-4-sulphatase","volume":"284","author":"Anson","year":"1992","journal-title":"Biochem. J."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1126\/science.144321","article-title":"Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: A model of Maroteaux-Lamy syndrome","volume":"198","author":"Jezyk","year":"1977","journal-title":"Science"},{"key":"ref_65","first-page":"657","article-title":"The pathology of the feline model of mucopolysaccharidosis VI","volume":"101","author":"Haskins","year":"1980","journal-title":"Am. J. Pathol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1172\/JCI118617","article-title":"Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome","volume":"97","author":"Crawley","year":"1996","journal-title":"J. Clin. Investig."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1172\/JCI119208","article-title":"Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI","volume":"99","author":"Crawley","year":"1997","journal-title":"J. Clin. Investig."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"36335","DOI":"10.1074\/jbc.274.51.36335","article-title":"Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VI","volume":"274","author":"Bielicki","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/S8756-3282(97)00175-0","article-title":"Effect of Enzyme Replacement Therapy on Bone Formation in a Feline Model. of Mucopolysaccharidosis Type VI","volume":"21","author":"Byers","year":"1997","journal-title":"Bone"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/S1096-7192(03)00007-6","article-title":"Replacement therapy in Mucopolysaccharidosis type VI: Advantages of early onset of therapy","volume":"78","author":"Auclair","year":"2003","journal-title":"Mol. Genet. Metab."},{"key":"ref_71","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":"ref_72","doi-asserted-by":"crossref","unstructured":"Harmatz, P., Ketteridge, D., Giugliani, R., Guffon, N., Teles, E.L., Miranda, M.C.S., Yu, Z.F., Swiedler, S.J., and Hopwood, J.J. (2005). Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): Results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylga. Pediatrics, 115.","DOI":"10.1542\/peds.2004-1023"},{"key":"ref_73","doi-asserted-by":"crossref","unstructured":"Harmatz, P., Giugliani, R., Schwartz, I., Guffon, N., Teles, E.L., Miranda, M.C.S., Wraith, J.E., Beck, M., Arash, L., and Scarpa, M. (2006). Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-l. J. Pediatr., 148.","DOI":"10.1016\/j.jpeds.2005.12.014"},{"key":"ref_74","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":"ref_75","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ymgme.2021.02.006","article-title":"Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study","volume":"133","author":"Horovitz","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/s10545-013-9654-7","article-title":"Galsulfase (Naglazyme\u00ae) therapy in infants with mucopolysaccharidosis VI","volume":"37","author":"Harmatz","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.ymgme.2021.03.006","article-title":"Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy","volume":"133","author":"Garcia","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1111\/j.1399-0004.2009.01324.x","article-title":"Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study","volume":"77","author":"McGill","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4238\/gmr.15017850","article-title":"Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: Results of a long-term follow-up of Brazilian siblings","volume":"15","author":"Franco","year":"2016","journal-title":"Genet. Mol. Res."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.ymgme.2011.08.029","article-title":"Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI","volume":"104","author":"Furujo","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_81","first-page":"69","article-title":"Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up","volume":"13","author":"Furujo","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.ymgme.2017.03.008","article-title":"The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)","volume":"122","author":"Harmatz","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.ymgme.2019.06.008","article-title":"Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program","volume":"127","author":"Lampe","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/jimd.12079","article-title":"Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program","volume":"42","author":"Harmatz","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1002\/jimd.12028","article-title":"Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review","volume":"42","author":"Gomes","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1203\/01.pdr.0000203090.41012.a6","article-title":"Intra-articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: Enzyme dose and interval","volume":"59","author":"Auclair","year":"2006","journal-title":"Pediatr. Res."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.ymgme.2007.04.009","article-title":"Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI","volume":"91","author":"Auclair","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"ref_88","first-page":"3","article-title":"An overview of intra-articular therapy for mucopolysaccharidosis VI","volume":"3","author":"Auclair","year":"2010","journal-title":"J. Pediatr. Rehabil. Med."},{"key":"ref_89","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":"ref_90","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/8904_2011_56","article-title":"Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI","volume":"2","author":"Sillence","year":"2012","journal-title":"JIMD Rep."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1002\/ajmg.a.35263","article-title":"Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation","volume":"158A","author":"Sohn","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1089\/104454999315402","article-title":"Regulation of N-acetylgalactosamine 4-sulfatase expression in retrovirus-transduced feline mucopolysaccharidosis type VI muscle cells","volume":"18","author":"Yogalingam","year":"1999","journal-title":"DNA Cell Biol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1038\/mt.2012.9","article-title":"Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats","volume":"20","author":"Ponder","year":"2012","journal-title":"Mol. Ther."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1002\/jgm.302","article-title":"Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI","volume":"4","author":"Ho","year":"2002","journal-title":"J. Gene Med."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/mt.2010.257","article-title":"Long-term amelioration of feline mucopolysaccharidosis VI after AAV-mediated liver gene transfer","volume":"19","author":"Cotugno","year":"2011","journal-title":"Mol. Ther."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1089\/hum.2012.179","article-title":"Gene therapy for mucopolysaccharidosis type VI Is effective in cats without pre-existing immunity to AAV8","volume":"24","author":"Ferla","year":"2013","journal-title":"Hum. Gene Ther."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.omtm.2020.11.015","article-title":"Low incidence of hepatocellular carcinoma in mice and cats treated with systemic adeno-associated viral vectors","volume":"20","author":"Ferla","year":"2021","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1089\/hum.2013.213","article-title":"Similar therapeutic efficacy between a single administration of gene therapy and multiple administrations of recombinant enzyme in a mouse model of lysosomal storage disease","volume":"25","author":"Ferla","year":"2014","journal-title":"Hum. Gene Ther."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.omtm.2017.07.004","article-title":"Non-clinical Safety and Efficacy of an AAV2\/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI","volume":"6","author":"Ferla","year":"2017","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.ymgme.2009.02.008","article-title":"Lentiviral-mediated correction of MPS VI cells and gene transfer to joint tissues","volume":"97","author":"Byers","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1016\/j.ymgme.2015.02.001","article-title":"Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells","volume":"114","author":"Jackson","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_102","doi-asserted-by":"crossref","unstructured":"Entchev, E., Jantzen, I., Masson, P., Bocart, S., Bournique, B., Luccarini, J.M., Bouchot, A., Lacombe, O., Junien, J.L., and Broqua, P. (2020). Odiparcil, a potential glycosaminoglycans clearance therapy in mucopolysaccharidosis VI\u2014Evidence from in vitro and in vivo models. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0233032"},{"key":"ref_103","doi-asserted-by":"crossref","unstructured":"Entchev, E., Antonelli, S., Mauro, V., Cimbolini, N., Jantzen, I., Roussey, A., Germain, J.M., Zhang, H., Luccarrini, J.M., and Lacombe, O. (2021). MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment. Mol. Genet. Metab., S1096-7192.","DOI":"10.1016\/j.ymgme.2021.07.008"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1073\/pnas.0912937107","article-title":"Involvement of the Toll-like receptor 4 pathway and use of TNF-\u03b1 antagonists for treatment of the mucopolysaccharidoses","volume":"107","author":"Simonaro","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_105","doi-asserted-by":"crossref","unstructured":"Schuchman, E.H., Ge, Y., Lai, A., Borisov, Y., Faillace, M., Eliyahu, E., He, X., Iatridis, J., Vlassara, H., and Striker, G. (2013). Pentosan Polysulfate: A Novel Therapy for the Mucopolysaccharidoses. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0054459"},{"key":"ref_106","doi-asserted-by":"crossref","unstructured":"Frohbergh, M., Ge, Y., Meng, F., Karabul, N., Solyom, A., Lai, A., Iatridis, J., Schuchman, E.H., and Simonaro, C.M. (2014). Dose responsive effects of subcutaneous pentosan polysulfate injection in mucopolysaccharidosis type VI rats and comparison to oral treatment. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0100882"},{"key":"ref_107","doi-asserted-by":"crossref","unstructured":"G\u00f3mez-Grau, M., Garrido, E., Cozar, M., Rodriguez-Sureda, V., Dom\u00ednguez, C., Arenas, C., Gatti, R.A., Cormand, B., Grinberg, D., and Vilageliu, L. (2015). Evaluation of aminoglycoside and non-aminoglycoside compounds for stop-codon readthrough therapy in four lysosomal storage diseases. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0135873"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s10545-012-9521-y","article-title":"Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI","volume":"36","author":"Bartolomeo","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1089\/hum.2017.009","article-title":"Recombinant Adeno-Associated Viral Integration and Genotoxicity: Insights from Animal Models","volume":"28","author":"Chandler","year":"2017","journal-title":"Hum. Gene Ther."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"2054","DOI":"10.1038\/mt.2016.181","article-title":"Low-dose gene therapy reduces the frequency of enzyme replacement therapy in a mouse model of lysosomal storage disease","volume":"24","author":"Alliegro","year":"2016","journal-title":"Mol. Ther."},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Eliyahu, E., Wolfson, T., Ge, Y., Jepsen, K.J., Schuchman, E.H., and Simonaro, C.M. (2011). Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0022447"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1016\/0006-291X(74)90435-5","article-title":"Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: Deficiency of a N-acetylgalactosamine-4-sulfatase","volume":"60","author":"Cantz","year":"1974","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_113","first-page":"21","article-title":"Ultrastructure of skin fibroblasts in storage diseases (mucopolysaccharidosis types IV and VI)","volume":"14","author":"VIa","year":"1980","journal-title":"Tsitol Genet."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"4962","DOI":"10.1021\/bi0121149","article-title":"Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): A Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network","volume":"41","author":"Bradford","year":"2002","journal-title":"Biochemistry"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/0304-4165(80)90131-2","article-title":"Characterization of dermatan sulfate in mucopolysaccharidosis VI. Evidence for the absence of hyaluronidase-like enzymes in human skin fibroblasts","volume":"630","author":"Klein","year":"1980","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"14322","DOI":"10.1016\/S0021-9258(17)43862-2","article-title":"Biosynthesis and maturation of arylsulfatase B in normal and mutant cultured human fibroblasts","volume":"258","author":"Steckel","year":"1983","journal-title":"J. Biol Chem."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ana.410060405","article-title":"Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B)","volume":"6","author":"Pilz","year":"1979","journal-title":"Ann. Neurol."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1177\/030098588902600402","article-title":"Morphology of Leukocytes from Cats Affected with a-Mannosidosis and Mucopolysaccharidosis VI (MPS VI)","volume":"26","author":"Alroy","year":"1989","journal-title":"Vet. Pathol."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"2186","DOI":"10.1002\/jbmr.3563","article-title":"The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover","volume":"33","author":"Pohl","year":"2018","journal-title":"J. Bone Miner. Res."},{"key":"ref_120","first-page":"11","article-title":"Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype","volume":"3","author":"Golda","year":"2015","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1755-8417-2-4","article-title":"Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI","volume":"2","author":"Tessitore","year":"2009","journal-title":"Pathogenetics"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"8214","DOI":"10.1073\/pnas.93.16.8214","article-title":"Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis","volume":"93","author":"Evers","year":"1996","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_123","unstructured":"Curtain, M.M., and Donahue, L.R. (2021, September 03). A Mutation in the Arsb Gene; A Mouse Model That Resembles Maroteaux_Lamy Syndrome. MGI Direct Data Submission MGI: J:149960. Available online: http:\/\/www.informatics.jax.org\/reference\/J:149960."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1177\/0300985817732115","article-title":"Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene","volume":"55","author":"Wang","year":"2018","journal-title":"Vet. Pathol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1111\/j.1651-2227.2007.00211.x","article-title":"Animal models for mucopolysaccharidosis disorders and their clinical relevance","volume":"96","author":"Haskins","year":"2007","journal-title":"Acta P\u00e6diatrica"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1002\/jor.22281","article-title":"Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux\u2013Lamy syndrome)","volume":"31","author":"Lai","year":"2013","journal-title":"J. Orthop. Res."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1172\/JCI116268","article-title":"Arylsulfatase B-deficient mucopolysaccharidosis in rats","volume":"91","author":"Yoshida","year":"1993","journal-title":"J. Clin. Investig."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1080\/00480169.2011.642791","article-title":"Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene","volume":"60","author":"Jolly","year":"2012","journal-title":"N. Z. Vet. J."},{"key":"ref_129","first-page":"272","article-title":"Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis","volume":"56","author":"Kridel","year":"2015","journal-title":"Can. Vet. J."},{"key":"ref_130","first-page":"191","article-title":"Mucopolysaccharidosis VI Maroteaux-Lamy syndrome. Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat","volume":"105","author":"Haskins","year":"1981","journal-title":"Am. J. Pathol."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1203\/00006450-197911000-00001","article-title":"Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: Leukocyte studies and carrier identification","volume":"13","author":"Haskins","year":"1979","journal-title":"Pediatr. Res."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1172\/JCI935","article-title":"Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes","volume":"101","author":"Crawley","year":"1998","journal-title":"J. Clin. Investig."},{"key":"ref_133","first-page":"916","article-title":"Feline mucopolysaccharidosis VI: Purification and characterization of the residual arylsulfatase B activity","volume":"33","author":"Vine","year":"1981","journal-title":"Am. J. Hum. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/8756-3282(93)90165-7","article-title":"Characterization of osteopenia in feline mucopolysaccharidosis VI and evaluation of bone marrow transplantation therapy","volume":"14","author":"Norrdin","year":"1993","journal-title":"Bone"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0009-8981(96)06501-1","article-title":"Urine glycosaminoglycan concentrations in mucopolysaccharidosis VI-affected cats following bone marrow transplantation or leukocyte infusion","volume":"263","author":"Dial","year":"1997","journal-title":"Clin. Chim. Acta"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1002\/cne.21847","article-title":"Altered olfactory epithelial structure and function in feline models of mucopolysaccharidoses I and VI","volume":"511","author":"Lischka","year":"2008","journal-title":"J. Comp. Neurol."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s002239900656","article-title":"Histomorphometric analysis of the tibial growth plate in a feline model of mucopolysaccharidosis type VI","volume":"65","author":"Nuttall","year":"1999","journal-title":"Calcif. Tissue Int."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1111\/ped.13751","article-title":"Liver transplantation: New treatment for mucopolysaccharidosis type VI in rats","volume":"61","author":"Toyama","year":"2019","journal-title":"Pediatr. Int."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"1386","DOI":"10.1097\/00007890-199705270-00003","article-title":"Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: Biochemical, pathological, and clinical findings","volume":"63","author":"Simonaro","year":"1997","journal-title":"Transplantation"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/S0021-9975(08)80258-7","article-title":"Pathological characteristics of mucopolysaccharidosis VI in the rat","volume":"109","author":"Yoshida","year":"1993","journal-title":"J. Comp. Pathol."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1203\/01.PDR.0000084085.65972.3F","article-title":"Cardiac and Ocular Pathologies in a Mouse Model of Mucopolysaccharidosis Type VI","volume":"54","author":"Strauch","year":"2003","journal-title":"Pediatr. Res."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.ymgme.2020.02.006","article-title":"Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses","volume":"130","author":"Kakkis","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"v41","DOI":"10.1093\/rheumatology\/ker390","article-title":"Diagnosis of the mucopolysaccharidoses","volume":"50","author":"Lehman","year":"2011","journal-title":"Rheumatology"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1038\/s41436-018-0136-z","article-title":"Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses","volume":"21","author":"Saville","year":"2019","journal-title":"Genet. Med."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1007\/s10545-010-9254-8","article-title":"Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases","volume":"34","author":"Mercer","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"38305","DOI":"10.1038\/srep38305","article-title":"Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H","volume":"6","author":"Raymond","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.ymgme.2016.01.012","article-title":"Elevated TNF-\u03b1 is associated with pain and physical disability in mucopolysaccharidosis types I., II, and VI","volume":"117","author":"Polgreen","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.ymgme.2014.09.012","article-title":"Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I","volume":"114","author":"Heppner","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/8904_2011_58","article-title":"Differential expression of matrix metalloproteinases in the serum of patients with mucopolysaccharidoses","volume":"3","author":"Batzios","year":"2012","journal-title":"JIMD Rep."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/jimd.12166","article-title":"Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses","volume":"43","author":"Patel","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"12238","DOI":"10.1021\/acs.analchem.5b03232","article-title":"Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS\/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI","volume":"87","author":"Heywood","year":"2015","journal-title":"Anal. Chem."},{"key":"ref_152","doi-asserted-by":"crossref","unstructured":"Tebani, A., Abily-Donval, L., Schmitz-Afonso, I., Piraud, M., Ausseil, J., Zerimech, F., Pilon, C., Pereira, T., Marret, S., and Afonso, C. (2019). Analysis of mucopolysaccharidosis type VI through integrative functional metabolomics. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20020446"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/24\/13456\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:48:32Z","timestamp":1760168912000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/24\/13456"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,15]]},"references-count":152,"journal-issue":{"issue":"24","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["ijms222413456"],"URL":"https:\/\/doi.org\/10.3390\/ijms222413456","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,15]]}}}