{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T14:04:55Z","timestamp":1792159495126,"version":"4.4.0"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100012233","name":"Abeona Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012233","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seminars in Pediatric Neurology"],"published-print":{"date-parts":[[2021,4]]},"DOI":"10.1016\/j.spen.2021.100874","type":"journal-article","created":{"date-parts":[[2021,2,10]],"date-time":"2021-02-10T12:14:13Z","timestamp":1612959253000},"page":"100874","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":44,"special_numbering":"C","title":["Update in the Mucopolysaccharidoses"],"prefix":"10.1016","volume":"37","author":[{"given":"Kim L.","family":"McBride","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin M.","family":"Flanigan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.spen.2021.100874_bib0001","series-title":"The Online Metabolic and Molecular Bases of Inherited Disease","article-title":"The mucopolysaccharidoses","author":"Neufeld","year":"2019"},{"key":"10.1016\/j.spen.2021.100874_bib0002","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1007\/s00247-018-4139-3","article-title":"Mucopolysaccharidoses: Overview of neuroimaging manifestations","volume":"48","author":"Nicolas-Jilwan","year":"2018","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.spen.2021.100874_bib0003","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":"10.1016\/j.spen.2021.100874_bib0004","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00690379","article-title":"Mucopolysaccharidosis type 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":"10.1016\/j.spen.2021.100874_bib0005","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1093\/hmg\/ddm289","article-title":"A block of autophagy in lysosomal storage disorders","volume":"17","author":"Settembre","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.spen.2021.100874_bib0006","doi-asserted-by":"crossref","first-page":"e35787","DOI":"10.1371\/journal.pone.0035787","article-title":"Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB","volume":"7","author":"Wilkinson","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.spen.2021.100874_bib0007","doi-asserted-by":"crossref","first-page":"396","DOI":"10.3390\/jcm9020396","article-title":"Brain pathology in mucopolysaccharidoses (MPS) patients with neurological forms","volume":"9","author":"Viana","year":"2020","journal-title":"J Clin Med"},{"key":"10.1016\/j.spen.2021.100874_bib0008","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.3390\/ijms21082975","article-title":"Intravenous enzyme replacement therapy in mucopolysaccharidoses: Clinical effectiveness and limitations","volume":"21","author":"Parini","year":"2020","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.spen.2021.100874_bib0009","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":"10.1016\/j.spen.2021.100874_bib0010","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.3389\/fimmu.2020.01000","article-title":"Immune modulation for enzyme replacement therapy in a female patient with hunter syndrome","volume":"11","author":"Julien","year":"2020","journal-title":"Front Immunol."},{"key":"10.1016\/j.spen.2021.100874_bib0011","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.ymgme.2019.11.007","article-title":"Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study","volume":"129","author":"Chen","year":"2020","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.spen.2021.100874_bib0012","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":"10.1016\/j.spen.2021.100874_bib0013","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ymgme.2018.10.006","article-title":"Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial","volume":"126","author":"Wijburg","year":"2019","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.spen.2021.100874_bib0014","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1186\/s13023-018-0849-8","article-title":"Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial","volume":"13","author":"Giugliani","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.spen.2021.100874_bib0015","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":"10.1016\/j.spen.2021.100874_bib0016","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1016\/S0140-6736(04)16102-3","article-title":"Bone marrow transdifferentiation in brain after transplantation: A retrospective study","volume":"363","author":"Cogle","year":"2004","journal-title":"Lancet"},{"key":"10.1016\/j.spen.2021.100874_bib0017","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1001\/archneur.64.5.noc60105","article-title":"Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy","volume":"64","author":"Schonberger","year":"2007","journal-title":"Arch Neurol"},{"key":"10.1016\/j.spen.2021.100874_bib0018","doi-asserted-by":"crossref","first-page":"3981","DOI":"10.1182\/blood-2012-09-455238","article-title":"Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning","volume":"121","author":"Boelens","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.spen.2021.100874_bib0019","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":"10.1016\/j.spen.2021.100874_bib0020","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":"10.1016\/j.spen.2021.100874_bib0021","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":"10.1016\/j.spen.2021.100874_bib0022","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/ana.22643","article-title":"Genistein in Sanfilippo disease: A randomized controlled crossover trial","volume":"71","author":"de Ruijter","year":"2012","journal-title":"Ann Neurol"},{"key":"10.1016\/j.spen.2021.100874_bib0023","doi-asserted-by":"crossref","first-page":"2566","DOI":"10.3390\/ijms21072566","article-title":"Mechanism of secondary ganglioside and lipid accumulation in lysosomal disease","volume":"21","author":"Breiden","year":"2020","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.spen.2021.100874_bib0024","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1016\/j.jpeds.2011.04.040","article-title":"Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: A randomized, double-blind, placebo-controlled study","volume":"159","author":"Guffon","year":"2011","journal-title":"J Pediatr"},{"key":"10.1016\/j.spen.2021.100874_bib0025","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1080\/15548627.2018.1474313","article-title":"Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency","volume":"14","author":"Lotfi","year":"2018","journal-title":"Autophagy"},{"key":"10.1016\/j.spen.2021.100874_bib0026","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1007\/s10545-016-9974-5","article-title":"Treatment with pentosan polysulphate in patients with MPS I: Results from an open label, randomized, monocentric phase II study","volume":"39","author":"Hennermann","year":"2016","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.spen.2021.100874_bib0027","volume":"9","author":"Orii","year":"2019"},{"key":"10.1016\/j.spen.2021.100874_bib0028","first-page":"75","article-title":"Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II","volume":"10","author":"Polgreen","year":"2017","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.spen.2021.100874_bib0029","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.ymgme.2017.09.010","article-title":"Practical management of behavioral problems in mucopolysaccharidoses disorders","author":"Escolar","year":"2017","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.spen.2021.100874_bib0030","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","author":"Shapiro","year":"2017","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.spen.2021.100874_bib0031","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nbt.1515","article-title":"Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes","volume":"27","author":"Foust","year":"2009","journal-title":"Nat Biotechnol"},{"key":"10.1016\/j.spen.2021.100874_bib0032","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.spen.2021.100874_bib0033","doi-asserted-by":"crossref","first-page":"16036","DOI":"10.1038\/mtm.2016.36","article-title":"Functional correction of neurological and somatic disorders at later stages of disease in MPS IIIA mice by systemic scAAV9-hSGSH gene delivery","volume":"3","author":"Fu","year":"2016","journal-title":"Mol Ther Methods Clin Dev"},{"key":"10.1016\/j.spen.2021.100874_bib0034","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1038\/mt.2015.9","article-title":"Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice","volume":"23","author":"Duncan","year":"2015","journal-title":"Mol Ther"},{"key":"10.1016\/j.spen.2021.100874_bib0035","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":"10.1016\/j.spen.2021.100874_bib0036","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1089\/humc.2015.132","article-title":"A GLP-Compliant Toxicology and Biodistribution Study: Systemic Delivery of an rAAV9 Vector for the Treatment of Mucopolysaccharidosis IIIB","volume":"26","author":"Meadows","year":"2015","journal-title":"Hum Gene Ther Clin Dev"},{"key":"10.1016\/j.spen.2021.100874_bib0037","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1089\/humc.2013.208","article-title":"Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: Toxicology, biodistribution, and immunological assessments in primates","volume":"25","author":"Murrey","year":"2014","journal-title":"Hum Gene Ther Clin Dev"},{"key":"10.1016\/j.spen.2021.100874_bib0038","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1089\/hum.2015.170","article-title":"A preclinical study evaluating AAVrh10-based gene therapy for Sanfilippo syndrome","volume":"27","author":"Winner","year":"2016","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.spen.2021.100874_bib0039","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1089\/hum.2013.238","article-title":"Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: Results of a phase I\/II trial","volume":"25","author":"Tardieu","year":"2014","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.spen.2021.100874_bib0040","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/mt.2010.265","article-title":"Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes","volume":"19","author":"Ellinwood","year":"2011","journal-title":"Mol Ther"},{"key":"10.1016\/j.spen.2021.100874_bib0041","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":"10.1016\/j.spen.2021.100874_bib0042","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1089\/humc.2017.109","article-title":"Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy","volume":"28","author":"Fu","year":"2017","journal-title":"Hum Gene Ther Clin Dev"},{"key":"10.1016\/j.spen.2021.100874_bib0043","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1089\/hum.2009.182","article-title":"Prevalence of serum IgG and neutralizing factors against adeno-associated virus (AAV) types 1, 2, 5, 6, 8, and 9 in the healthy population: Implications for gene therapy using AAV vectors","volume":"21","author":"Boutin","year":"2010","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.spen.2021.100874_bib0044","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":"10.1016\/j.spen.2021.100874_bib0045","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1038\/s41436-020-0909-z","article-title":"Treatment of Mucopolysaccharidosis Type II (Hunter syndrome): A Delphi Derived Practice Resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"22","author":"McBride","year":"2020","journal-title":"Genetics in Medicine"}],"container-title":["Seminars in Pediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909121000024?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909121000024?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T06:38:23Z","timestamp":1761028703000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1071909121000024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":45,"alternative-id":["S1071909121000024"],"URL":"https:\/\/doi.org\/10.1016\/j.spen.2021.100874","relation":{},"ISSN":["1071-9091"],"issn-type":[{"value":"1071-9091","type":"print"}],"subject":[],"published":{"date-parts":[[2021,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Update in the Mucopolysaccharidoses","name":"articletitle","label":"Article Title"},{"value":"Seminars in Pediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.spen.2021.100874","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100874"}}