{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:16:17Z","timestamp":1790806577655,"version":"4.1.0"},"reference-count":269,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2021,7,23]],"date-time":"2021-07-23T00:00:00Z","timestamp":1626998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage diseases associated with disrupted glycosaminoglycan catabolism. In MPS II, the first step of degradation of heparan sulfate (HS) and dermatan sulfate (DS) is blocked by a deficiency in the lysosomal enzyme iduronate 2-sulfatase (IDS), while, in MPS I, blockage of the second step is caused by a deficiency in iduronidase (IDUA). The subsequent accumulation of HS and DS causes lysosomal hypertrophy and an increase in the number of lysosomes in cells, and impacts cellular functions, like cell adhesion, endocytosis, intracellular trafficking of different molecules, intracellular ionic balance, and inflammation. Characteristic phenotypical manifestations of both MPS I and II include skeletal disease, reflected in short stature, inguinal and umbilical hernias, hydrocephalus, hearing loss, coarse facial features, protruded abdomen with hepatosplenomegaly, and neurological involvement with varying functional concerns. However, a few manifestations are disease-specific, including corneal clouding in MPS I, epidermal manifestations in MPS II, and differences in the severity and nature of behavioral concerns. These phenotypic differences appear to be related to different ratios between DS and HS, and their sulfation levels. MPS I is characterized by higher DS\/HS levels and lower sulfation levels, while HS levels dominate over DS levels in MPS II and sulfation levels are higher. The high presence of DS in the cornea and its involvement in the arrangement of collagen fibrils potentially causes corneal clouding to be prevalent in MPS I, but not in MPS II. The differences in neurological involvement may be due to the increased HS levels in MPS II, because of the involvement of HS in neuronal development. Current treatment options for patients with MPS II are often restricted to enzyme replacement therapy (ERT). While ERT has beneficial effects on respiratory and cardiopulmonary function and extends the lifespan of the patients, it does not significantly affect CNS manifestations, probably because the enzyme cannot pass the blood\u2013brain barrier at sufficient levels. Many experimental therapies, therefore, aim at delivery of IDS to the CNS in an attempt to prevent neurocognitive decline in the patients.<\/jats:p>","DOI":"10.3390\/ijms22157888","type":"journal-article","created":{"date-parts":[[2021,7,23]],"date-time":"2021-07-23T10:31:44Z","timestamp":1627036304000},"page":"7888","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":56,"title":["Differences in MPS I and MPS II Disease Manifestations"],"prefix":"10.3390","volume":"22","author":[{"given":"Christiane S.","family":"Hampe","sequence":"first","affiliation":[{"name":"Immusoft Corp., Seattle, WA 98103, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brianna D.","family":"Yund","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9426-1292","authenticated-orcid":false,"given":"Paul J.","family":"Orchard","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Troy C.","family":"Lund","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Wesley","sequence":"additional","affiliation":[{"name":"Immusoft Corp., Seattle, WA 98103, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Scott","family":"McIvor","sequence":"additional","affiliation":[{"name":"Immusoft Corp., Minneapolis, MN 55413, USA"},{"name":"Department of Genetics, Cell Biology and Development and Center for Genome Engineering, University of Minnesota, Minneapolis, MN 55413, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,23]]},"reference":[{"key":"ref_1","first-page":"104","article-title":"A Rare Disease in Two Brothers","volume":"10","author":"Hunter","year":"1917","journal-title":"Proc. R. Soc. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2018\/4252696","article-title":"Hunter Syndrome Diagnosed by Otorhinolaryngologist","volume":"2018","author":"Hashimoto","year":"2018","journal-title":"Case Rep. Otolaryngol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.ymgme.2017.05.016","article-title":"Epidemiology of mucopolysaccharidoses","volume":"121","author":"Khan","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_4","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_5","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.ymgme.2019.07.016","article-title":"Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England","volume":"129","author":"Broomfield","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/bs.accb.2019.09.001","article-title":"Mucopolysaccharidosis type II (Hunter syndrome): Clinical and biochemical aspects of the disease and approaches to its diagnosis and treatment","volume":"77","author":"Mohamed","year":"2020","journal-title":"Adv. Carbohydr. Chem. Biochem."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s10545-008-0878-x","article-title":"Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed","volume":"31","author":"Mayatepek","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e1258","DOI":"10.1542\/peds.2010-1274","article-title":"Natural progression of neurological disease in mucopolysaccharidosis type II","volume":"127","author":"Holt","year":"2011","journal-title":"Pediatrics"},{"key":"ref_9","unstructured":"Scriver, C.R., Beudet, A.L., Sly, W.S., and Valle, D. (2001). The Metabolic & Molecular Basis of Inherited Disease, McGraw-Hill. [8th ed.]."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s00431-007-0635-4","article-title":"Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy","volume":"167","author":"Wraith","year":"2008","journal-title":"Eur. J. Pediatr."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1542\/peds.2007-1350","article-title":"Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)","volume":"121","author":"Martin","year":"2008","journal-title":"Pediatrics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1111\/j.1469-8749.1983.tb13794.x","article-title":"The Natural History of the Severe Form of Hunter\u2019s Syndrome: A Study Based on 52 Cases","volume":"25","author":"Young","year":"1983","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.ymgme.2007.01.011","article-title":"The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I","volume":"91","author":"Pastores","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1007\/s00431-011-1644-x","article-title":"Diagnosis and treatment trends in mucopolysaccharidosis I: Findings from the MPS I registry","volume":"171","author":"Underhill","year":"2012","journal-title":"Eur. J. Pediatr."},{"key":"ref_15","first-page":"107","article-title":"Mucopolysaccharidosis type II, Hunter\u2019s syndrome","volume":"12","year":"2014","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/1750-1172-6-72","article-title":"Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease","volume":"6","author":"Scarpa","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1097\/GIM.0b013e3181f6e74d","article-title":"Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey","volume":"12","author":"Mendelsohn","year":"2010","journal-title":"Genet. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1038\/gim.2014.25","article-title":"The natural history of MPS I: Global perspectives from the MPS I Registry","volume":"16","author":"Beck","year":"2014","journal-title":"Genet. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1001\/archpedi.1966.02090150062003","article-title":"Clinical Definition of the Hurler-Hunter Phenotypes","volume":"112","author":"Leroy","year":"1966","journal-title":"Am. J. Dis. Child."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s13023-017-0583-7","article-title":"Early disease progression of Hurler syndrome","volume":"12","author":"Kiely","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1017\/S1047951109003576","article-title":"The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses","volume":"19","author":"Corti","year":"2009","journal-title":"Cardiol. Young"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1542\/peds.2008-0416","article-title":"Mucopolysaccharidosis I: Management and treatment guidelines","volume":"123","author":"Muenzer","year":"2009","journal-title":"Pediatrics"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1097\/GIM.0b013e31817701e6","article-title":"Initial report from the Hunter Outcome Survey","volume":"10","author":"Wraith","year":"2008","journal-title":"Genet. Med."},{"key":"ref_24","first-page":"16","article-title":"Orthopedic manifestations in patients with muco polysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey","volume":"2","author":"Link","year":"2010","journal-title":"Orthop. Rev. (Pavia)"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1182\/blood-2014-11-608075","article-title":"Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: An international multicenter study","volume":"125","author":"Aldenhoven","year":"2015","journal-title":"Blood"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1093\/rheumatology\/ker393","article-title":"Orthopaedic aspects of mucopolysaccharidoses","volume":"50","author":"White","year":"2011","journal-title":"Rheumatology"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1186\/s13023-016-0470-7","article-title":"Musculoskeletal manifestations in mucopolysaccharidosis type i (Hurler syndrome) following hematopoietic stem cell transplantation","volume":"11","author":"Schmidt","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/j.1651-2227.2007.00212.x","article-title":"A clinical study of 77 patients with mucopolysaccharidosis type II","volume":"96","author":"Schwartz","year":"2007","journal-title":"Acta Paediatr. Int. J. Paediatr."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1111\/j.1525-1470.1998.tb01367.x","article-title":"Pebbling of the skin: A marker of Hunter\u2019s syndrome","volume":"15","author":"Thappa","year":"1998","journal-title":"Pediatr. Dermatol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1111\/j.1468-3083.2007.02203.x","article-title":"Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): A survey among 52 Japanese patients","volume":"21","author":"Ochiai","year":"2007","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ymgme.2020.07.004","article-title":"The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I","volume":"132","author":"Broomfield","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s10545-011-9378-5","article-title":"Hearing loss in patients with mucopolysaccharidosis II: Data from HOS - The Hunter Outcome Survey","volume":"35","author":"Keilmann","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.jpeds.2011.01.054","article-title":"Prevalence and characterization of cardiac involvement in hunter syndrome","volume":"159","author":"Kampmann","year":"2011","journal-title":"J. Pediatr."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1159\/000064674","article-title":"Cardiac Structural Involvement in Mucopolysaccharidoses","volume":"98","author":"Rigante","year":"2002","journal-title":"Cardiology"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1007\/s004310050872","article-title":"Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders- clinical and echocardiographic findings in 64 patients","volume":"157","author":"Dangel","year":"1998","journal-title":"Eur. J. Pediatr."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1017\/S104795110999062X","article-title":"Echocardiographic study of paediatric patients with mucopolysaccharidosis","volume":"20","author":"Leal","year":"2010","journal-title":"Cardiol. Young"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1007\/s10072-016-2788-2","article-title":"Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome)","volume":"38","author":"Figuera","year":"2017","journal-title":"Neurol. Sci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.jpeds.2012.07.052","article-title":"Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome","volume":"162","author":"Eisengart","year":"2013","journal-title":"J. Pedatr."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.ymgme.2015.06.002","article-title":"Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment","volume":"116","author":"Shapiro","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_40","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., and Mirzaa, G. (2002). Mucopolysaccharidosis Type I. GeneReviews, University of Washington."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1111\/j.1365-2214.1981.tb00838.x","article-title":"Psychosocial problems in Hunter\u2019s syndrome","volume":"7","author":"Young","year":"1981","journal-title":"Child. Care. Health Dev."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"37515","DOI":"10.1074\/jbc.M111.287474","article-title":"Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking \u03b1-L-iduronidase","volume":"286","author":"Holley","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"10755","DOI":"10.1038\/s41598-019-46829-x","article-title":"Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis","volume":"9","author":"Lin","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.ymgme.2014.10.012","article-title":"Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy","volume":"114","author":"Langereis","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.ymgme.2014.09.009","article-title":"A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: An improved clinical screening test for the mucopolysaccharidoses","volume":"114","author":"Zhang","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.ymgme.2010.09.003","article-title":"Efficient analysis of urinary glycosaminoglycans by LC-MS\/MS in mucopolysaccharidoses type I, II and VI","volume":"102","author":"Gagnon","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.ymgme.2018.07.013","article-title":"Evaluation of cerebrospinal fluid heparan sulfate as a biomarker of neuropathology in a murine model of mucopolysaccharidosis type II using high-sensitivity LC\/MS\/MS","volume":"125","author":"Tanaka","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"727","DOI":"10.4155\/bio-2018-0306","article-title":"Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS\/MS","volume":"11","author":"Menkovic","year":"2019","journal-title":"Bioanalysis"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.cca.2020.05.035","article-title":"Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy","volume":"508","author":"Zhang","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/ped.12636","article-title":"Sanfilippo syndrome: Overall review","volume":"57","author":"Andrade","year":"2015","journal-title":"Pediatr. Int."},{"key":"ref_51","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_52","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1002\/mgg3.471","article-title":"The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses","volume":"6","author":"Lin","year":"2018","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1007\/s10545-005-0069-y","article-title":"Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses","volume":"28","author":"Tomatsu","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1007\/s11011-015-9684-y","article-title":"Mental retardation in mucopolysaccharidoses correlates with high molecular weight urinary heparan sulphate derived glucosamine","volume":"30","author":"Coppa","year":"2015","journal-title":"Metab. Brain Dis."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.ymgmr.2016.03.009","article-title":"The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry","volume":"7","author":"Mashima","year":"2016","journal-title":"Mol. Genet. Metab. Reports"},{"key":"ref_56","first-page":"1","article-title":"A cerebrospinal fluid collection study in pediatric and adult patients with hunter syndrome","volume":"2015","author":"Hendriksz","year":"2015","journal-title":"J. Inborn Errors Metab. Screen."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1038\/nature05817","article-title":"Heparan sulphate proteoglycans fine-tune mammalian physiology","volume":"446","author":"Bishop","year":"2007","journal-title":"Nature"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"272","DOI":"10.3109\/03008207.2015.1045066","article-title":"Interactions of signaling proteins, growth factors and other proteins with heparan sulfate: Mechanisms and mysteries","volume":"56","author":"Billings","year":"2015","journal-title":"Connect. Tissue Res."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/0167-5699(93)90209-4","article-title":"Proteoglycans on endothelial cells present adhesion-inducing cytokines to leukocytes","volume":"14","author":"Tanaka","year":"1993","journal-title":"Immunol. Today"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"4932","DOI":"10.2741\/3578","article-title":"Heparan sulfate proteoglycans in extravasation: Assisting leukocyte guidance","volume":"14","author":"Celie","year":"2009","journal-title":"Front. Biosci."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.ymgme.2018.08.003","article-title":"Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders","volume":"125","author":"Bigger","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"165539","DOI":"10.1016\/j.bbadis.2019.165539","article-title":"Heparan sulfate proteoglycans: The sweet side of development turns sour in mucopolysaccharidoses","volume":"1865","author":"Pavone","year":"2019","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1093\/glycob\/cwf066","article-title":"Dermatan sulfate: New functions from an old glycosaminoglycan","volume":"12","author":"Trowbridge","year":"2002","journal-title":"Glycobiology"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1042\/bj3120215","article-title":"Tilorone-induced lysosomal storage of glycosaminoglycans in cultured corneal fibroblasts: Biochemical and physicochemical investigations","volume":"312","author":"Fischer","year":"1995","journal-title":"Biochem. J."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"2187","DOI":"10.1016\/0006-2952(91)90355-9","article-title":"The tilorone-induced mucopolysaccharidosis in rats. Biochemical investigations","volume":"42","author":"Prokopek","year":"1991","journal-title":"Biochem. Pharmacol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1007\/BF02150034","article-title":"Keratopathy in rats after treatment with tilorone","volume":"224","year":"1986","journal-title":"Graefe \u2019 s Arch. Ophthalmol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/0300-483X(89)90004-8","article-title":"Mucopolysaccharidosis and lipidosis in rats treated with tilorone analogues","volume":"58","author":"Hein","year":"1989","journal-title":"Toxicology"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1002\/nbm.833","article-title":"Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses","volume":"16","author":"Hochuli","year":"2003","journal-title":"NMR Biomed."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1093\/glycob\/cwj072","article-title":"A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates","volume":"16","author":"Fuller","year":"2006","journal-title":"Glycobiology"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/0304-4165(75)90312-8","article-title":"Comparative structural studies of urinary glycosaminoglycans in the Hurler and Hunter Syndromes","volume":"411","author":"Ramage","year":"1975","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/nchembio.766","article-title":"Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses","volume":"8","author":"Lawrence","year":"2012","journal-title":"Nat. Chem. Biol."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Wilkinson, F.L., Holley, R.J., Langford-Smith, K.J., Badrinath, S., Liao, A., Langford-Smith, A., Cooper, J.D., Jones, S.A., Wraith, J.E., and Wynn, R.F. (2012). Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0035787"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"e8730","DOI":"10.15252\/emmm.201708730","article-title":"Brain-targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms","volume":"10","author":"Gleitz","year":"2018","journal-title":"EMBO Mol. Med."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.mehy.2010.07.044","article-title":"Why are behaviors of children suffering from various neuronopathic types of mucopolysaccharidoses different?","volume":"75","author":"Wegrzyn","year":"2010","journal-title":"Med. Hypotheses"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1093\/glycob\/9.2.143","article-title":"Interactions of neural glycosaminoglycans and proteoglycans with protein ligands: Assessment of selectivity, heterogeneity and the participation of core proteins in binding","volume":"9","author":"Herndon","year":"1999","journal-title":"Glycobiology"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"20130545","DOI":"10.1098\/rstb.2013.0545","article-title":"Extracellular distribution of diffusible growth factors controlled by heparan sulfate proteoglycans during mammalian embryogenesis","volume":"369","author":"Matsuo","year":"2014","journal-title":"Philos. Trans. R. Soc. B Biol. Sci."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1083\/jcb.132.3.487","article-title":"Heparan sulfate expression in polarized epithelial cells: The apical sorting of glypican (GPI-anchored proteoglycan) is inversely related to its heparan sulfate content","volume":"132","author":"Mertens","year":"1996","journal-title":"J. Cell Biol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1111\/j.1742-4658.2012.08529.x","article-title":"Glycosaminoglycans: Key players in cancer cell biology and treatment","volume":"279","author":"Afratis","year":"2012","journal-title":"FEBS J."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1016\/j.cell.2006.08.019","article-title":"Glycosylation in Cellular Mechanisms of Health and Disease","volume":"126","author":"Ohtsubo","year":"2006","journal-title":"Cell"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"36194","DOI":"10.1074\/jbc.M114.599944","article-title":"Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I","volume":"289","author":"Watson","year":"2014","journal-title":"J. Biol. Chem."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1042\/BST0340438","article-title":"Multiprotein signalling complexes: Regional assembly on heparan sulphate","volume":"34","author":"Gallagher","year":"2006","journal-title":"Biochem. Soc. Trans."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1083\/jcb.200106075","article-title":"Role of heparan sulfate as a tissue-specific regulator of FGF-4 and FGF receptor recognition","volume":"155","author":"Allen","year":"2001","journal-title":"J. Cell Biol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1002\/cbin.11332","article-title":"Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses","volume":"45","author":"Brokowska","year":"2021","journal-title":"Cell Biol. Int."},{"key":"ref_84","doi-asserted-by":"crossref","unstructured":"Gaffke, L., Pierzynowska, K., Podlacha, M., Hoinkis, D., Rintz, E., Brokowska, J., Cyske, Z., and Wegrzyn, G. (2020). Underestimated aspect of mucopolysaccharidosis pathogenesis: Global changes in cellular processes revealed by transcriptomic studies. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21041204"},{"key":"ref_85","doi-asserted-by":"crossref","unstructured":"Salvalaio, M., D\u2019Avanzo, F., Rigon, L., Zanetti, A., D\u2019Angelo, M., Valle, G., Scarpa, M., and Tomanin, R. (2017). Brain RNA-seq profiling of the mucopolysaccharidosis type II mouse model. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18051072"},{"key":"ref_86","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_87","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.cca.2019.08.027","article-title":"Proteomic approaches in the discovery of potential urinary biomarkers of mucopolysaccharidosis type II","volume":"499","author":"Yuan","year":"2019","journal-title":"Clin. Chim. Acta"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ymgme.2016.10.001","article-title":"Proteomic analysis of muccopolysaccharidosis I mouse brain with two-dimensional polyacrylamide gel electrophoresis","volume":"120","author":"Ou","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.ymgme.2014.12.301","article-title":"Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice","volume":"114","author":"Baldo","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"e01667","DOI":"10.1016\/j.heliyon.2019.e01667","article-title":"Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain","volume":"5","author":"Cardona","year":"2019","journal-title":"Heliyon"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1111\/j.1525-1470.2005.22321.x","article-title":"What syndrome is this?","volume":"22","author":"Lonergan","year":"2005","journal-title":"Pediatr. Dermatol."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1001\/archderm.1977.01640050062007","article-title":"A Cutaneous Marker in the Hunter Syndrome: A Report of Four Cases","volume":"113","author":"Prystowsky","year":"1977","journal-title":"Arch. Dermatol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1111\/j.1600-0560.1977.tb00923.x","article-title":"A Pathological Basis for the Cutaneous Papules of Mucopolysaccharidosis II (The Hunter Syndrome)","volume":"4","author":"Freeman","year":"1977","journal-title":"J. Cutan. Pathol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1046\/j.1365-2230.1999.00448.x","article-title":"Skin eruption as the presenting sign of Hunter syndrome IIB","volume":"24","author":"Demitsu","year":"1999","journal-title":"Clin. Exp. Dermatol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1078\/0344-0338-00324","article-title":"Heparan sulphate proteoglycan in scleromyxedema promotes FGF-2 activity","volume":"198","author":"Warner","year":"2002","journal-title":"Pathol Res. Pr."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1177\/000992288102001105","article-title":"The Mongolian Spot","volume":"20","author":"Cordova","year":"1981","journal-title":"Clin. Pediatr."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"2607","DOI":"10.1002\/dvdy.21579","article-title":"Development of the corneal stroma, and the collagen-proteoglycan associations that help define its structure and function","volume":"237","author":"Quantock","year":"2008","journal-title":"Dev. Dyn."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1167\/iovs.04-0804","article-title":"Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene","volume":"46","author":"Bredrup","year":"2005","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.ajo.2006.03.064","article-title":"A Second Decorin Frame Shift Mutation in a Family With Congenital Stromal Corneal Dystrophy","volume":"142","author":"Knappskog","year":"2006","journal-title":"Am. J. Ophthalmol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"4246","DOI":"10.1111\/j.1742-4658.2007.05951.x","article-title":"The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis","volume":"274","author":"Robenek","year":"2007","journal-title":"FEBS J."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1097\/00003226-199601000-00006","article-title":"Corneal endothelium in mucopolysaccharide storage disorders. Morphologic studies in animal models","volume":"15","author":"Mollard","year":"1996","journal-title":"Cornea"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1111\/j.1755-3768.2011.02280.x","article-title":"Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis","volume":"90","author":"Fahnehjelm","year":"2012","journal-title":"Acta Ophthalmol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1006\/exer.1998.0622","article-title":"Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI","volume":"68","author":"Alroy","year":"1999","journal-title":"Exp. Eye Res."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.exer.2016.05.022","article-title":"A novel explanation of corneal clouding in a bone marrow transplant-treated patient with Hurler syndrome","volume":"148","author":"Yuan","year":"2016","journal-title":"Exp. Eye Res."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s002470050131","article-title":"Lumbar gibbus in storage diseases and bone dysplasias","volume":"27","author":"Levin","year":"1997","journal-title":"Pediatr. Radiol."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/ajmg.a.37383","article-title":"The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations","volume":"107A","author":"Janecke","year":"2016","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"2331","DOI":"10.1002\/ajmg.a.40507","article-title":"Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14\/D4ST1 deficiency (mcEDS-CHST14)","volume":"176","author":"Uehara","year":"2018","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13052-018-0560-3","article-title":"Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: A practical guide for paediatric and adult cardiologists","volume":"44","author":"Boffi","year":"2018","journal-title":"Ital. J. Pediatr."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1007\/s10545-011-9359-8","article-title":"Cardiac disease in patients with mucopolysaccharidosis: Presentation, diagnosis and management","volume":"34","author":"Braunlin","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1111\/j.1399-0004.2004.00277.x","article-title":"Clinical and biochemical study of 28 patients with mucopolysaccharides type VI","volume":"66","author":"Azevedo","year":"2004","journal-title":"Clin. Genet."},{"key":"ref_111","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":"ref_112","first-page":"218","article-title":"Localization and pattern of expression of extracellular matrix components in human heart valves","volume":"14","author":"Latif","year":"2005","journal-title":"J. Hear. Valve Dis."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00690379","article-title":"Mucopolysaccharidosis types I, II, IIIA and V - Pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain","volume":"39","author":"Dekaban","year":"1977","journal-title":"Acta Neuropathol."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1111\/j.1471-4159.1980.tb11220.x","article-title":"Mucopolysaccharidosis Types IH, IS, II and IIIA: Glycosaminoglycans and Lipids of Isolated Brain Cells and Other Fractions from Autopsied Tissues","volume":"34","author":"Constantopoulos","year":"1980","journal-title":"J. Neurochem."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"189","DOI":"10.3109\/15513815.2010.547559","article-title":"Nodular lesions of choroid plexus in Hurler disease","volume":"30","author":"Lach","year":"2011","journal-title":"Fetal Pediatr. Pathol."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.jpeds.2015.11.079","article-title":"A prospective natural history study of Mucopolysaccharidosis Type IIIA","volume":"170","author":"Shapiro","year":"2016","journal-title":"J. Pediatr."},{"key":"ref_117","unstructured":"Scriver, C., Beaudet, A., Sly, W., Valle, D., Childs, B., Kinzler, K., and Vogelstein, B. (2001). The Mucopolysaccharidoses, McGraw-Hill. [8th ed.]."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.jpeds.2018.01.044","article-title":"Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B","volume":"197","author":"Whitley","year":"2018","journal-title":"J. Pediatr."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.ymgme.2017.09.006","article-title":"Quantitative neuroimaging in mucopolysaccharidoses clinical trials","volume":"122","author":"Nestrasil","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"E2321","DOI":"10.1212\/WNL.0000000000007496","article-title":"Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I","volume":"92","author":"King","year":"2019","journal-title":"Neurology"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ymgme.2014.12.299","article-title":"Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II","volume":"114","author":"Yund","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ymgme.2012.07.016","article-title":"An exploratory study of brain function and structure in mucopolysaccharidosis type I: Long term observations following hematopoietic cell transplantation (HCT)","volume":"107","author":"Shapiro","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/s10545-012-9572-0","article-title":"Behavioural phenotypes of the mucopolysaccharide disorders: A systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders","volume":"36","author":"Cross","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/s13023-018-0817-3","article-title":"Beneath the floor: Re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome","volume":"13","author":"Shapiro","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.ymgmr.2016.03.006","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. Reports"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.ymgme.2013.11.014","article-title":"Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome","volume":"111","author":"Ahmed","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1136\/adc.73.1.77","article-title":"Behaviour in mucopolysaccharide disorders","volume":"73","author":"Bax","year":"1995","journal-title":"Arch. Dis. Child."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.ymgme.2017.09.007","article-title":"Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses","volume":"122","author":"Shapiro","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1080\/13803395.2013.804035","article-title":"Mucopolysaccharidosis Type IIIA presents as a variant of Kl\u00fcver-Bucy syndrome","volume":"35","author":"Potegal","year":"2013","journal-title":"J. Clin. Exp. Neuropsychol."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"S67","DOI":"10.1016\/j.ymgme.2015.12.321","article-title":"Emotional-behavioral functioning in individuals with MPS I: A longitudinal approach","volume":"2","author":"King","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1056\/NEJMoa032613","article-title":"Cord-blood transplants from unrelated donors in patients with Hurler\u2019s syndrome","volume":"350","author":"Staba","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1002\/ana.1098","article-title":"Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation","volume":"50","author":"Seto","year":"2001","journal-title":"Ann. Neurol."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/s13023-020-01644-w","article-title":"Long term disease burden post-transplantation: Three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)","volume":"16","author":"Guffon","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1186\/s13023-021-01767-8","article-title":"Evaluating strategies to manage and endure challenging behaviors in mucopolysaccharidoses","volume":"16","author":"Grant","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.jpeds.2011.03.019","article-title":"Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II","volume":"159","author":"Holt","year":"2011","journal-title":"J. Pediatr."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"100549","DOI":"10.1016\/j.ymgmr.2019.100549","article-title":"The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome","volume":"22","author":"Eisengart","year":"2020","journal-title":"Mol. Genet. Metab. Reports"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"22","DOI":"10.12968\/bjon.2016.25.1.22","article-title":"Management of the behavioural manifestations of hunter syndrome","volume":"25","author":"Roberts","year":"2016","journal-title":"Br. J. Nurs."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ymgme.2017.10.006","article-title":"Epilepsy in mucopolysaccharidosis disorders","volume":"122","author":"Scarpa","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_139","first-page":"S56","article-title":"Particular features of neurological symptoms with children suffering from MPS syndrome type II","volume":"108","author":"Kuzenkova","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/adc.57.11.828","article-title":"Mild form of Hunter\u2019s syndrome: Clinical delineation based on 31 cases","volume":"57","author":"Young","year":"1982","journal-title":"Arch. Dis. Child."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1126\/science.1090497","article-title":"Mammalian Brain Morphogenesis and Midline Axon Guidance Require Heparan Sulfate","volume":"302","author":"Inatani","year":"2003","journal-title":"Science"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"3456","DOI":"10.1242\/dev.098178","article-title":"Heparan sulfate proteoglycans: A sugar code for vertebrate development?","volume":"142","author":"Poulain","year":"2015","journal-title":"Development"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1182\/blood-2005-02-0657","article-title":"Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells","volume":"106","author":"Pan","year":"2005","journal-title":"Blood"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ymgme.2004.09.004","article-title":"Prediction of neuropathology in mucopolysaccharidosis I patients","volume":"84","author":"Fuller","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"26842","DOI":"10.1074\/jbc.M109.093542","article-title":"Heparan sulfate domain organization and sulfation modulate FGF-induced cell signaling","volume":"285","author":"Jastrebova","year":"2010","journal-title":"J. Biol. Chem."},{"key":"ref_146","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_147","doi-asserted-by":"crossref","unstructured":"Goodall, K.J., Poon, I.K.H., Phipps, S., and Hulett, M.D. (2014). Soluble heparan sulfate fragments generated by heparanase trigger the release of pro-inflammatory cytokines through TLR-4. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0109596"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1369\/0022155417742147","article-title":"Heparan Sulfate Proteoglycans as Relays of Neuroinflammation","volume":"66","author":"Zhang","year":"2018","journal-title":"J. Histochem. Cytochem."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.arr.2016.07.005","article-title":"The lysosomal storage disease continuum with ageing-related neurodegenerative disease","volume":"32","author":"Haslett","year":"2016","journal-title":"Ageing Res. Rev."},{"key":"ref_150","first-page":"1253","article-title":"Early accumulation of heparan sulfate in neurons and in the beta-amyloid protein-containing lesions of Alzheimer\u2019s disease and Down\u2019s syndrome","volume":"137","author":"Snow","year":"1990","journal-title":"Am. J. Pathol."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"e3138","DOI":"10.1073\/pnas.1301440110","article-title":"Heparan sulfate proteoglycans mediate internalization and propagation of specific proteopathic seeds","volume":"110","author":"Holmes","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"3806","DOI":"10.1002\/1873-3468.13082","article-title":"The role of heparan sulfates in protein aggregation and their potential impact on neurodegeneration","volume":"592","author":"Chantepie","year":"2018","journal-title":"FEBS Lett."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.semcdb.2004.03.002","article-title":"Secondary accumulation of gangliosides in lysosomal storage disorders","volume":"15","author":"Walkley","year":"2004","journal-title":"Semin. Cell Dev. Biol."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/j.bbamcr.2008.11.014","article-title":"Secondary lipid accumulation in lysosomal disease","volume":"1793","author":"Walkley","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_155","doi-asserted-by":"crossref","unstructured":"Viana, G.M., Priestman, D.A., Platt, F.M., Khan, S., Tomatsu, S., and Pshezhetsky, A.V. (2020). Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms. J. Clin. Med., 9.","DOI":"10.3390\/jcm9020396"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/cne.20355","article-title":"Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders","volume":"480","author":"McGlynn","year":"2004","journal-title":"J. Comp. Neurol."},{"key":"ref_157","first-page":"317","article-title":"Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease","volume":"17","author":"Hampe","year":"2020","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1177\/030098589803500311","article-title":"Syndrome, Clinical and Morphologic Features of Mucopolysaccharidosis Type II in a Dog: Naturally Occurring Model of Hunter Syndrome","volume":"35","author":"Wilkerson","year":"1998","journal-title":"Vet. Pathol."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1651-2227.2002.tb03118.x","article-title":"Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): A preliminary report","volume":"91","author":"Muenzer","year":"2002","journal-title":"Acta Paediatr. Suppl."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1089\/hum.2016.101","article-title":"Delivery of an Adeno-associated virus vector into cerebrospinal fluid attenuates central nervous system disease in mucopolysaccharidosis type II mice","volume":"27","author":"Hinderer","year":"2016","journal-title":"Hum. Gene Ther."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.ymgme.2012.05.005","article-title":"Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II","volume":"107","author":"Higuchi","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10059-010-0083-2","article-title":"Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2\/8 vector-mediated gene therapy","volume":"30","author":"Jung","year":"2010","journal-title":"Mol. Cells"},{"key":"ref_163","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":"158 A","author":"Hong","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1007\/s10545-007-0641-8","article-title":"The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)","volume":"30","author":"Garcia","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1002\/jgm.790","article-title":"Reduction of GAG storage in MPS II mouse model following implantation on encapsulated recombinant myoblasts","volume":"7","author":"Friso","year":"2005","journal-title":"J. Gene Med."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1093\/hmg\/ddl038","article-title":"Correction of Hunter syndrome in the MPSII mouse model by AAV2\/8-mediated gene delivery","volume":"15","author":"Cardone","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1089\/hum.2014.158","article-title":"Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II","volume":"26","author":"Wakabayashi","year":"2015","journal-title":"Hum. Gene Ther."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"4871","DOI":"10.1093\/hmg\/ddq420","article-title":"Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy","volume":"19","author":"Polito","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"e86696","DOI":"10.1172\/jci.insight.86696","article-title":"CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome)","volume":"1","author":"Motas","year":"2016","journal-title":"JCI Insight"},{"key":"ref_170","doi-asserted-by":"crossref","unstructured":"Provoost, L., Siracusa, C., Stefanovski, D., Che, Y., Li, M., and Casal, M. (2020). Cognitive abilities of dogs with mucopolysaccharidosis I: Learning and memory. Animals, 10.","DOI":"10.3390\/ani10030397"},{"key":"ref_171","first-page":"244","article-title":"Canine alpha-L-Iduronidase Deficiency A Model of Mucopolysaccharidosis I","volume":"109","author":"Shull","year":"1982","journal-title":"Am. J. Pathol."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"6091","DOI":"10.1073\/pnas.80.19.6091","article-title":"A canine model of human \u03b1-L-iduronidase deficiency","volume":"80","author":"Spellacy","year":"1983","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ymgme.2009.08.002","article-title":"Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation","volume":"99","author":"Wang","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_174","first-page":"3","article-title":"Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry","volume":"5","author":"Oestreich","year":"2015","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1186\/s13052-018-0550-5","article-title":"Mucopolysaccharidoses: Early diagnostic signs in infants and children","volume":"44","author":"Galimberti","year":"2018","journal-title":"Ital. J. Pediatr."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.bbmt.2008.01.009","article-title":"The Clinical Outcome of Hurler Syndrome after Stem Cell Transplantation","volume":"14","author":"Aldenhoven","year":"2008","journal-title":"Biol. Blood Marrow Transplant."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1186\/s13052-018-0561-2","article-title":"Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses","volume":"44","author":"Barone","year":"2018","journal-title":"Ital. J. Pediatr."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1007\/BF00710053","article-title":"Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation","volume":"18","author":"Shapiro","year":"1995","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_179","first-page":"100630","article-title":"Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course","volume":"24","author":"Seo","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/j.ymgme.2016.01.009","article-title":"The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)","volume":"117","author":"Parini","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1365-2214.1996.tb00420.x","article-title":"Early presentation in the mucopolysaccharide disorders","volume":"22","author":"Colville","year":"1996","journal-title":"Child. Care. Health Dev."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.brainres.2007.10.036","article-title":"Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndrome","volume":"1188","author":"Pan","year":"2008","journal-title":"Brain Res."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.ymgme.2013.03.005","article-title":"Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice","volume":"109","author":"Baldo","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1093\/hmg\/6.4.503","article-title":"Murine mucopolysaccharidosis type I: Targeted disruption of the murine alpha-L-iduronidase gene","volume":"6","author":"Clarke","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_185","doi-asserted-by":"crossref","unstructured":"Gleitz, H.F.E., O\u2019Leary, C., Holley, R.J., and Bigger, B.W. (2017). Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of mucopolysaccharidosis type II. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0172435"},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1177\/000348948409300115","article-title":"Mucopolysaccharidosis I-H (Hurler\u2019s syndrome) and human temporal bone histopathology","volume":"93","author":"Schachern","year":"1984","journal-title":"Ann. Otol. Rhinol. Laryngol."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"4045","DOI":"10.1038\/s41467-019-11962-8","article-title":"Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I","volume":"10","author":"Scharenberg","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_188","doi-asserted-by":"crossref","unstructured":"Hampe, C.S., Wesley, J., Lund, T.C., Orchard, P.J., Polgreen, L.E., Eisengart, J.B., McLoon, L.K., Cureoglu, S., Schachern, P., and McIvor, R.S. (2021). Mucopolysaccharidosis type I: Current treatments, limitations and prospects for improvement. Biomolecules, 11.","DOI":"10.3390\/biom11020189"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1186\/s13023-017-0662-9","article-title":"Open issues in Mucopolysaccharidosis type I-Hurler","volume":"12","author":"Parini","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/s10719-014-9523-0","article-title":"A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome","volume":"31","author":"Chung","year":"2014","journal-title":"Glycoconj. J."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1007\/s10545-017-0075-x","article-title":"Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)","volume":"40","author":"Burton","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.ymgme.2020.07.005","article-title":"Enzyme replacement therapy for the treatment of Hunter disease: A systematic review with narrative synthesis and meta-analysis","volume":"131","author":"Bonet","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"2467","DOI":"10.2147\/DDDT.S139601","article-title":"Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): The past, the present and the future","volume":"11","author":"Whiteman","year":"2017","journal-title":"Drug Des. Devel. Ther."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1097\/MOP.0b013e3282f161f2","article-title":"Enzyme reconstitution\/replacement therapy for lysosomal storage diseases","volume":"19","author":"Burrow","year":"2007","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/1750-1172-8-42","article-title":"Phase I\/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome)","volume":"8","author":"Sohn","year":"2013","journal-title":"Orphanet J. Rare Dis"},{"key":"ref_196","doi-asserted-by":"crossref","unstructured":"Bhalla, A., Ravi, R., Fang, M., Arguello, A., Davis, S.S., Chiu, C.L., Blumenfeld, J.R., Nguyen, H.N., Earr, T.K., and Wang, J. (2020). Characterization of fluid biomarkers reveals lysosome dysfunction and neurodegeneration in neuronopathic MPS II patients. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21155188"},{"key":"ref_197","doi-asserted-by":"crossref","unstructured":"Parini, R., and Deodato, F. (2020). Intravenous enzyme replacement therapy in mucopolysaccharidoses: Clinical effectiveness and limitations. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21082975"},{"key":"ref_198","first-page":"62","article-title":"Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up","volume":"12","author":"Barth","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.ymgme.2012.12.010","article-title":"Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings","volume":"108","author":"Tajima","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.ymgme.2006.09.001","article-title":"A phase I\/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)","volume":"90","author":"Muenzer","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/s00431-011-1606-3","article-title":"The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus","volume":"171","author":"Muenzer","year":"2012","journal-title":"Eur. J. Pediatr."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1097\/GIM.0b013e3181fea459","article-title":"Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome","volume":"13","author":"Muenzer","year":"2011","journal-title":"Genet. Med."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.prrv.2010.10.005","article-title":"Respiratory Manifestations in Mucopolysaccharidoses","volume":"12","author":"Muhlebach","year":"2011","journal-title":"Paediatr. Respir. Rev."},{"key":"ref_204","first-page":"65","article-title":"Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients","volume":"3","author":"Parini","year":"2015","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1007\/s10545-014-9686-7","article-title":"Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: An international case series","volume":"37","author":"Lampe","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"2104","DOI":"10.1016\/j.bbmt.2016.08.015","article-title":"Allogeneic Hematopoietic Stem Cell Transplantation in Thirty-Four Pediatric Cases of Mucopolysaccharidosis\u2014A Ten-Year Report from the China Children Transplant Group","volume":"22","author":"Wang","year":"2016","journal-title":"Biol. Blood Marrow Transplant."},{"key":"ref_207","doi-asserted-by":"crossref","unstructured":"Suzuki, Y., Taylor, M., Orii, K., Fukao, T., Orii, T., and Tomatsu, S. (2020). Assessment of activity of daily life in mucopolysaccharidosis type II patients with hematopoietic stem cell transplantation. Diagnostics, 10.","DOI":"10.3390\/diagnostics10010046"},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S0022-3476(96)70202-0","article-title":"Bone marrow transplantation in Hunter syndrome","volume":"129","author":"McKinnis","year":"1996","journal-title":"J. Pediatr."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/j.jpeds.2008.11.041","article-title":"Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years","volume":"154","author":"Guffon","year":"2009","journal-title":"J. Pediatr."},{"key":"ref_210","first-page":"487","article-title":"Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: Long term follow-up on patients undergone to hematopoietic stem cell transplantation","volume":"65","author":"Annibali","year":"2013","journal-title":"Minerva Pediatr."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.ymgme.2013.03.001","article-title":"The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)","volume":"109","author":"Jones","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_212","first-page":"184","article-title":"Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome","volume":"1","author":"Patel","year":"2014","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_213","first-page":"227","article-title":"Bone marrow transplantation in Hunter syndrome (mucopolysaccharidosis type II): Two-year follow-up of the first Italian patient and review of the literature","volume":"17","author":"Coppa","year":"1995","journal-title":"Pediatr. Med. Chir."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/j.1442-200X.1994.tb03125.x","article-title":"Long-term effects of bone marrow transplantation for inborn errors","volume":"36","author":"Imaizumi","year":"1994","journal-title":"Acta Paediatr. Jpn."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.ymgme.2012.09.004","article-title":"Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan","volume":"107","author":"Tanaka","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"ref_216","first-page":"653","article-title":"Long-term follow-up of a patient transplanted for Hunter\u2019s disease type IIB: A case report and literature review","volume":"14","author":"Bergstrom","year":"1994","journal-title":"Bone Marrow Transpl."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/8904_2018_104","article-title":"Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series","volume":"41","author":"Selvanathan","year":"2018","journal-title":"JIMD Rep."},{"key":"ref_218","first-page":"31","article-title":"Bone marrow transplantation in Hunter syndrome: A preliminary report","volume":"22","author":"Warkentin","year":"1986","journal-title":"Birth Defects Orig Artic Ser"},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1002\/(SICI)1096-8628(19960906)64:4<531::AID-AJMG1>3.0.CO;2-S","article-title":"Biochemical and Molecular Analysis in a Patient with the Severe Form of Hunter Syndrome after Bone Marrow Transplantation","volume":"64","author":"Li","year":"1996","journal-title":"Am. J. Med. Genet. Semin. Med. Genet."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1016\/j.bbmt.2017.06.020","article-title":"Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II","volume":"23","author":"Kubaski","year":"2017","journal-title":"Biol. Blood Marrow Transplant."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1111\/jcpt.12136","article-title":"Current and potential therapeutic strategies for mucopolysaccharidoses","volume":"39","author":"Noh","year":"2014","journal-title":"J. Clin. Pharm. Ther."},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1111\/j.1525-1470.2011.01418.x","article-title":"Hunter syndrome: Resolution of extensive typical skin lesions after 9 months of enzyme replacement therapy with idursulfase","volume":"29","author":"Marin","year":"2012","journal-title":"Pediatr. Dermatol."},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1111\/j.1365-2133.2004.05944.x","article-title":"The effect of haematopoietic stem cell transplant on papules with \u201cpebbly\u201d appearance in Hunter\u2019s syndrome","volume":"151","author":"Ito","year":"2004","journal-title":"Br. J. Dermatol."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1023\/A:1005525931994","article-title":"Long-term follow-up following bone marrow transplantation for Hunter disease","volume":"22","author":"Vellodi","year":"1999","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ymgme.2014.11.002","article-title":"Activities of Daily Living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation","volume":"114","author":"Tanjuakio","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/S0140-6736(81)91046-1","article-title":"Reversal of clinical features of Hurler\u2019s disease and biochemical improvement after treatment by bone-marrow transplantation","volume":"2","author":"Hobbs","year":"1981","journal-title":"Lancet"},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"4894","DOI":"10.1182\/blood.V87.11.4894.bloodjournal87114894","article-title":"Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome","volume":"87","author":"Peters","year":"1996","journal-title":"Blood"},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1093\/rheumatology\/ker394","article-title":"Overview of the mucopolysaccharidoses","volume":"50","author":"Muenzer","year":"2011","journal-title":"Rheumatology"},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.ymgme.2009.05.006","article-title":"Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation","volume":"98","author":"Araya","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1586\/17446651.1.3.425","article-title":"Bone marrow transplantation for lysosomal storage disorders","volume":"1","author":"Vellodi","year":"2006","journal-title":"Expert Rev. Endocrinol. Metab."},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.bbmt.2019.02.012","article-title":"Hematopoietic stem cell transplantation for mucopolysaccharidoses; past, present, and future Madeleine","volume":"25","author":"Taylor","year":"2019","journal-title":"Biol. Blood Marrow Transpl."},{"key":"ref_232","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ymgme.2007.03.003","article-title":"Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II","volume":"91","author":"Garcia","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1089\/hum.2016.184","article-title":"Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice by Central Nervous System-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer","volume":"28","author":"Laoharawee","year":"2017","journal-title":"Hum. Gene Ther."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.ajhg.2009.07.011","article-title":"IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice","volume":"85","author":"Polito","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1038\/jhg.2013.92","article-title":"High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II","volume":"58","author":"Ahn","year":"2013","journal-title":"J. Hum. Genet."},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.omtm.2020.09.012","article-title":"Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation","volume":"19","author":"Wada","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_237","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1111\/j.1651-2227.2007.00213.x","article-title":"Mucopolysaccharidosis type II: An update on mutation spectrum","volume":"96","author":"Froissart","year":"2007","journal-title":"Acta Paediatr. Int. J. Paediatr."},{"key":"ref_238","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1111\/cge.12927","article-title":"Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II","volume":"91","author":"Dvorakova","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_239","doi-asserted-by":"crossref","unstructured":"Semyachkina, A.N., Voskoboeva, E.Y., Nikolaeva, E.A., and Zakharova, E.Y. (2021). Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II). BMC Med. Genomics, 14.","DOI":"10.1186\/s12920-021-00922-1"},{"key":"ref_240","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/cge.12738","article-title":"Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome","volume":"89","author":"Berumen","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_241","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.ymgme.2013.08.011","article-title":"Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients","volume":"111","author":"Schwartz","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"ref_242","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.ymgme.2016.05.003","article-title":"Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase","volume":"118","author":"Kosuga","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/8904_2016_535","article-title":"Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II","volume":"33","author":"Alkhzouz","year":"2017","journal-title":"JIMD Rep."},{"key":"ref_244","doi-asserted-by":"crossref","unstructured":"Calias, P., Papisov, M., Pan, J., Savioli, N., Belov, V., Huang, Y., Lotterhand, J., Alessandrini, M., Liu, N., and Fischman, A.J. (2012). CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: Implications for neurological outcomes of lysosomal storage disorder. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0030341"},{"key":"ref_245","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1007\/s10545-018-0221-0","article-title":"The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: Heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology","volume":"41","author":"Sohn","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_246","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1002\/ajmg.a.35869","article-title":"Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice","volume":"161","author":"Sohn","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/gim.2015.36","article-title":"A phase I\/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II","volume":"18","author":"Muenzer","year":"2016","journal-title":"Genet. Med."},{"key":"ref_248","doi-asserted-by":"crossref","unstructured":"Muenzer, J., Hendriksz, C.J., Stein, M.B., Fan, Z., Kearney, S., Horton, J., Vijayaraghavan, S., Santra, S., Solanki, G.A., and Pan, L. (2016). A long-term extension study evaluating intrathecal idursulfase-IT in children with Hunter syndrome and cognitive impairment. Mol. Genet. Metab., 99\u2013100.","DOI":"10.1016\/j.ymgme.2016.11.249"},{"key":"ref_249","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1080\/21678707.2018.1487838","article-title":"Intrathecal\/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: Efficacy, safety, and prospects","volume":"6","author":"Giugliani","year":"2018","journal-title":"Expert Opin. Orphan Drugs"},{"key":"ref_250","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.omtm.2021.02.018","article-title":"Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II","volume":"21","author":"Seo","year":"2021","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_251","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/j.ymthe.2018.02.032","article-title":"A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II","volume":"26","author":"Sonoda","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_252","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1124\/dmd.111.042903","article-title":"Brain-penetrating IgG-iduronate 2-sulfatase fusion protein for the mouse","volume":"40","author":"Zhou","year":"2012","journal-title":"Drug Metab. Dispos."},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1016\/j.ymthe.2021.01.027","article-title":"Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice","volume":"29","author":"Morimoto","year":"2021","journal-title":"Mol. Ther."},{"key":"ref_254","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.ymthe.2018.12.005","article-title":"Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1\/2 Trial","volume":"27","author":"Okuyama","year":"2019","journal-title":"Mol. Ther."},{"key":"ref_255","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.ymthe.2020.09.039","article-title":"A Phase 2\/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II","volume":"29","author":"Okuyama","year":"2021","journal-title":"Mol. Ther."},{"key":"ref_256","doi-asserted-by":"crossref","first-page":"2378","DOI":"10.1016\/j.ymthe.2021.03.019","article-title":"Iduronate-2-sulfatase fused with anti-human transferrin receptor antibody, pabinafusp alfa, for treatment of neuronopathic and non-neuronopathic mucopolysaccharidosis II: Report of a phase 2 trial in Brazil","volume":"29","author":"Giugliani","year":"2021","journal-title":"Mol. Ther."},{"key":"ref_257","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1002\/bit.25289","article-title":"Insulin Receptor Antibody-Iduronate 2-Sulfatase Fusion Protein: Pharmacokinetics, Anti-Drug Antibody, and Safety Pharmacology in Rhesus Monkeys","volume":"111","author":"Boado","year":"2014","journal-title":"Biotechnol. Bioeng."},{"key":"ref_258","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1021\/bc400319d","article-title":"Blood-brain barrier molecular trojan horse enables imaging of brain uptake of radioiodinated recombinant protein in the rhesus monkey","volume":"24","author":"Boado","year":"2013","journal-title":"Bioconjug. Chem."},{"key":"ref_259","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nbt.1515","article-title":"Intravascular AAV9 preferentially targets neonatal-neurons and adult-astrocytes in CNS","volume":"27","author":"Foust","year":"2009","journal-title":"Nat. Biotechnol."},{"key":"ref_260","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1038\/mt.2011.34","article-title":"Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery","volume":"19","author":"Fu","year":"2011","journal-title":"Mol. Ther."},{"key":"ref_261","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1089\/hum.2012.029","article-title":"Correction of pathological accumulation of glycosaminoglycans in central nervous system and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer","volume":"23","author":"Ruzo","year":"2012","journal-title":"Hum. Gene Ther."},{"key":"ref_262","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1182\/blood-2014-12-615492","article-title":"In vivo genome editing of the albumin locus as a platform for protein replacement therapy","volume":"126","author":"Sharma","year":"2015","journal-title":"Blood"},{"key":"ref_263","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/nbt1018-907","article-title":"Sangamo\u2019s landmark genome editing trial gets mixed reception","volume":"36","author":"Sheridan","year":"2018","journal-title":"Nat. Biotechnol."},{"key":"ref_264","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1177\/096368979500400409","article-title":"Microglia: The effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases","volume":"4","author":"Krivit","year":"1995","journal-title":"Cell Transpl."},{"key":"ref_265","doi-asserted-by":"crossref","first-page":"15018","DOI":"10.1073\/pnas.1205858109","article-title":"Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation","volume":"109","author":"Capotondo","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_266","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1203\/00006450-199103000-00016","article-title":"Hematopoietic cell transplantation after administration of high-dose busulfan in murine globoid cell leukodystrophy (the twitcher mouse)","volume":"29","author":"Yeager","year":"1991","journal-title":"Pediatr. Res."},{"key":"ref_267","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1182\/blood.V90.3.986","article-title":"Kinetics of central nervous system microglial and macrophage engraftment: Analysis using a transgenic bone marrow transplantation model","volume":"90","author":"Kennedy","year":"1997","journal-title":"Blood"},{"key":"ref_268","doi-asserted-by":"crossref","first-page":"e86667","DOI":"10.1172\/jci.insight.86667","article-title":"A cord blood monocyte\u2013derived cell therapy product accelerates brain remyelination","volume":"1","author":"Saha","year":"2016","journal-title":"JCI Insight"},{"key":"ref_269","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/j.jcyt.2015.02.006","article-title":"Preclinical characterization of DUOC-01, a cell therapy product derived from banked umbilical cord blood for use as an adjuvant to umbilical cord blood transplantation for treatment of inherited metabolic diseases","volume":"17","author":"Kurtzberg","year":"2015","journal-title":"Cytotherapy"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/15\/7888\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:34:00Z","timestamp":1760164440000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/15\/7888"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,23]]},"references-count":269,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2021,8]]}},"alternative-id":["ijms22157888"],"URL":"https:\/\/doi.org\/10.3390\/ijms22157888","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,23]]}}}