{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T13:50:09Z","timestamp":1791726609525,"version":"4.3.4"},"reference-count":81,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2024,8]]},"DOI":"10.1016\/j.ymgme.2024.108535","type":"journal-article","created":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T18:57:24Z","timestamp":1720637844000},"page":"108535","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":26,"title":["Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses"],"prefix":"10.1016","volume":"142","author":[{"given":"Joseph","family":"Muenzer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Lau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Dant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Fuller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nidal","family":"Boulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. Matthew","family":"Ellinwood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon A.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Zanelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara","family":"O'Neill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2024.108535_bb0005","author":"US Food and Drug Administration (FDA)"},{"key":"10.1016\/j.ymgme.2024.108535_bb0010","author":"Marks"},{"key":"10.1016\/j.ymgme.2024.108535_bb0015","author":"Fathy"},{"key":"10.1016\/j.ymgme.2024.108535_bb0020","author":"Imperato"},{"issue":"Suppl. 5","key":"10.1016\/j.ymgme.2024.108535_bb0025","doi-asserted-by":"crossref","first-page":"v4","DOI":"10.1093\/rheumatology\/ker394","article-title":"Overview of the mucopolysaccharidoses","volume":"50","author":"Muenzer","year":"2011","journal-title":"Rheumatology (Oxford)"},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0030","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.202012836","article-title":"The rapidly evolving view of lysosomal storage diseases","volume":"13","author":"Parenti","year":"2021","journal-title":"EMBO Mol. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108535_bb0035","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1186\/s13023-021-01880-8","article-title":"Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities","volume":"16","author":"Puckett","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"issue":"7","key":"10.1016\/j.ymgme.2024.108535_bb0040","doi-asserted-by":"crossref","first-page":"2515","DOI":"10.3390\/ijms21072515","article-title":"Pathogenesis of Mucopolysaccharidoses, an update","volume":"21","author":"Fecarotta","year":"2020","journal-title":"Int. J. Mol. Sci."},{"issue":"4","key":"10.1016\/j.ymgme.2024.108535_bb0045","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.jmb.2014.09.012","article-title":"Heparan sulfate saccharides modify focal adhesions: implication in mucopolysaccharidosis neuropathophysiology","volume":"427","author":"Bruy\u00e8re","year":"2015","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ymgme.2024.108535_bb0050","doi-asserted-by":"crossref","unstructured":"Fedele AO Sanfilippo syndrome: Causes, consequences, and treatments. Appl. Clin. Genet. 2015;8:269\u201381. doi: https:\/\/doi.org\/10.2147\/TACG.S57672.","DOI":"10.2147\/TACG.S57672"},{"issue":"10","key":"10.1016\/j.ymgme.2024.108535_bb0055","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1136\/jmedgenet-2021-108061","article-title":"Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency","volume":"59","author":"Verheyen","year":"2022","journal-title":"J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0060","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/s10038-018-0534-8","article-title":"Recent trends in mucopolysaccharidosis research","volume":"64","author":"Kobayashi","year":"2019","journal-title":"J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108535_bb0065","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s40120-020-00226-z","article-title":"Parent experiences of Sanfilippo syndrome impact and unmet treatment needs: a qualitative assessment","volume":"10","author":"Porter","year":"2021","journal-title":"Neurol Ther."},{"issue":"11","key":"10.1016\/j.ymgme.2024.108535_bb0070","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1038\/gim.2018.29","article-title":"Long-term outcomes of systemic therapies for hurler syndrome: an international multicenter comparison","volume":"20","author":"Eisengart","year":"2018","journal-title":"Genet. Med."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0075","doi-asserted-by":"crossref","first-page":"67","DOI":"10.36469\/jheor.2022.36540","article-title":"Impact of the timing of enzyme replacement therapy initiation and cognitive impairment status on outcomes for patients with mucopolysaccharidosis II (MPS II) in the United States: a retrospective chart review","volume":"9","author":"Yee","year":"2022","journal-title":"J. Health Econ. Outcomes Res."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2024.108535_bb0080","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ymgme.2022.07.017","article-title":"Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: results from a phase 2\/3 randomized study [erratum in Mol genet Metab. 2023;140(3):107645]","volume":"137","author":"Muenzer","year":"2022","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0085","volume":"141","author":"Argueta","year":"2024","journal-title":"Abstracts Mol. Gen. Met."},{"issue":"3","key":"10.1016\/j.ymgme.2024.108535_bb0090","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2023.107685","article-title":"Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: accurate diagnosis and elimination of false positive newborn screening results","volume":"140","author":"Saville","year":"2023","journal-title":"Mol. Genet. Metab."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2024.108535_bb0095","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.cccn.2004.03.015","article-title":"Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and berry spot tests","volume":"345","author":"Mabe","year":"2004","journal-title":"Clin. Chim. Acta"},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0100","first-page":"53","article-title":"Laboratory diagnosis of lysosomal diseases: newborn screening to treatment","volume":"41","author":"Fuller","year":"2020","journal-title":"Clin. Biochem. Rev."},{"issue":"3","key":"10.1016\/j.ymgme.2024.108535_bb0105","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1038\/s41436-018-0136-z","article-title":"Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses","volume":"21","author":"Saville","year":"2019","journal-title":"Genet. Med."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0110","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."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108535_bb0115","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/jmd2.12132","article-title":"Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA","volume":"55","author":"Chin","year":"2020","journal-title":"JIMD Rep."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108535_bb0120","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/jmd2.12214","article-title":"Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting","volume":"60","author":"Fuller","year":"2021","journal-title":"JIMD Rep."},{"issue":"3","key":"10.1016\/j.ymgme.2024.108535_bb0125","doi-asserted-by":"crossref","first-page":"69","DOI":"10.3390\/ijns6030069","article-title":"Evaluation of multiple methods for quantification of glycosaminoglycan biomarkers in newborn dried blood spots from patients with severe and attenuated mucopolysaccharidosis-I","volume":"6","author":"Herbst","year":"2020","journal-title":"Int. J. Neonat. Screen."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2024.108535_bb0130","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.ymgme.2019.05.005","article-title":"Evaluation of biomarkers for Sanfilippo syndrome","volume":"128","author":"Saville","year":"2019","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.ymgme.2024.108535_bb0135","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1067\/mcp.2001.113989","article-title":"Biomarkers and surrogate endpoints: preferred definitions and conceptual framework","volume":"69","author":"Biomarkers Definitions Working Group","year":"2001","journal-title":"Clin. Pharmacol. Ther."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2024.108535_bb0140","article-title":"Newborn screening for mucopolysaccharidosis type II: lessons learned","volume":"140","author":"Burton","year":"2023","journal-title":"Mol. Genet. Metab."},{"issue":"4","key":"10.1016\/j.ymgme.2024.108535_bb0145","doi-asserted-by":"crossref","first-page":"79","DOI":"10.3390\/ijns6040079","article-title":"Validation and implementation of a highly sensitive and efficient newborn screening assay for mucopolysaccharidosis type II","volume":"6","author":"Bilyeu","year":"2020","journal-title":"Int. J. Neonat. Screen"},{"issue":"7","key":"10.1016\/j.ymgme.2024.108535_bb0150","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.3390\/jpm12071023","article-title":"Newborn screening program for mucopolysaccharidosis type II and long-term follow-up of the screen-positive subjects in Taiwan","volume":"12","author":"Lin","year":"2022","journal-title":"J. Pers. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108535_bb0155","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.ymgme.2012.02.003","article-title":"Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I","volume":"106","author":"Dickson","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"545","key":"10.1016\/j.ymgme.2024.108535_bb0160","doi-asserted-by":"crossref","first-page":"eaay1163","DOI":"10.1126\/scitranslmed.aay1163","article-title":"Brain delivery and activity of a lysosomal enzyme using a blood-brain barrier transport vehicle in mice","volume":"12","author":"Ullman","year":"2020","journal-title":"Sci. Transl. Med."},{"issue":"15","key":"10.1016\/j.ymgme.2024.108535_bb0165","doi-asserted-by":"crossref","first-page":"5188","DOI":"10.3390\/ijms21155188","article-title":"Characterization of fluid biomarkers reveals lysosome dysfunction and neurodegeneration in neuronopathic MPS II patients","volume":"21","author":"Bhalla","year":"2020","journal-title":"Int. J. Mol. Sci."},{"issue":"5","key":"10.1016\/j.ymgme.2024.108535_bb0170","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1023\/A:1025177411938","article-title":"A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-\u03b1-D-glucosaminidase deficiency in schipperke dogs","volume":"26","author":"Ellinwood","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2024.108535_bb0175","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1124\/jpet.122.001119","article-title":"Tralesinidase alfa enzyme replacement therapy prevents disease manifestations in a canine model of mucopolysaccharidosis type IIIB","volume":"382","author":"Ellinwood","year":"2022","journal-title":"J. Pharmacol. Exp. Ther."},{"issue":"60","key":"10.1016\/j.ymgme.2024.108535_bb0180","doi-asserted-by":"crossref","first-page":"60ra89","DOI":"10.1126\/scitranslmed.3001380","article-title":"Replacing the enzyme \u03b1-l-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I","volume":"2","author":"Dierenfeld","year":"2010","journal-title":"Sci. Transl. Med."},{"issue":"19","key":"10.1016\/j.ymgme.2024.108535_bb0185","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.145445","article-title":"Iduronate-2-sulfatase transport vehicle rescues behavioral and skeletal phenotypes in a mouse model of hunter syndrome","volume":"6","author":"Arguello","year":"2021","journal-title":"JCI Insight"},{"issue":"5","key":"10.1016\/j.ymgme.2024.108535_bb0190","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":"10.1016\/j.ymgme.2024.108535_bb0195","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1016\/j.omtm.2022.05.002","article-title":"Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice","volume":"25","author":"Morimoto","year":"2022","journal-title":"Mol. Ther. Methods Clin. Dev."},{"issue":"7","key":"10.1016\/j.ymgme.2024.108535_bb0200","doi-asserted-by":"crossref","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."},{"issue":"6","key":"10.1016\/j.ymgme.2024.108535_bb0205","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."},{"issue":"11","key":"10.1016\/j.ymgme.2024.108535_bb0210","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."},{"issue":"8","key":"10.1016\/j.ymgme.2024.108535_bb0215","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\u2013directed, AAV9-mediated iduronate sulfatase gene transfer","volume":"28","author":"Laoharawee","year":"2017","journal-title":"Hum. Gene Ther."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0220","article-title":"Membrane-tethered form of NAGLU used to elucidate pathogenesis of heparan sulfate in MPS IIIB mice. Presented at WORLDSymposium, 22\u201326 February 2023, Orlando","volume":"138","author":"Le","year":"2023","journal-title":"FL Abstracts Mol. Gen. Met."},{"key":"10.1016\/j.ymgme.2024.108535_bb0225","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00412-014-0456-y","article-title":"Tracing the evolution of amniote chromosomes","volume":"123","author":"Deakin","year":"2014","journal-title":"Chromosoma"},{"issue":"3","key":"10.1016\/j.ymgme.2024.108535_bb0230","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1006\/geno.2001.6552","article-title":"Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B","volume":"74","author":"Aronovich","year":"2001","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2024.108535_bb0235","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1007\/s10545-007-0539-5","article-title":"Bovine mucopolysaccharidosis type IIIB","volume":"30","author":"Karageorgos","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"issue":"25","key":"10.1016\/j.ymgme.2024.108535_bb0240","doi-asserted-by":"crossref","first-page":"14505","DOI":"10.1073\/pnas.96.25.14505","article-title":"Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase","volume":"96","author":"Li","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"10","key":"10.1016\/j.ymgme.2024.108535_bb0245","doi-asserted-by":"crossref","first-page":"bio035386","DOI":"10.1242\/bio.035386","article-title":"A model of mucopolysaccharidosis type IIIB in pigs","volume":"7","author":"Yang","year":"2018","journal-title":"Biol. Open"},{"issue":"455","key":"10.1016\/j.ymgme.2024.108535_bb0250","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1111\/j.1651-2227.2007.00211.x","article-title":"Animal models for mucopolysaccharidosis disorders and their clinical relevance","volume":"96","author":"Haskins","year":"2007","journal-title":"Acta Paediatr."},{"issue":"4","key":"10.1016\/j.ymgme.2024.108535_bb0255","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s10545-010-9078-6","article-title":"Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders","volume":"33","author":"Hemsley","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"issue":"5","key":"10.1016\/j.ymgme.2024.108535_bb0260","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1007\/BF01800018","article-title":"N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID)","volume":"15","author":"Thompson","year":"1992","journal-title":"J. Inherit. Metab. Dis."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0265","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."},{"issue":"10","key":"10.1016\/j.ymgme.2024.108535_bb0270","first-page":"980","article-title":"Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII","volume":"18","author":"Haskins","year":"1984","journal-title":"Pediatr. Res."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108535_bb0275","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1203\/00006450-199807000-00012","article-title":"Sulfamidase deficiency in a family of dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo a)","volume":"44","author":"Fischer","year":"1998","journal-title":"Pediatr. Res."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0280","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1006\/geno.2002.6699","article-title":"Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand huntaway dogs","volume":"79","author":"Yogalingam","year":"2002","journal-title":"Genomics"},{"issue":"11","key":"10.1016\/j.ymgme.2024.108535_bb0285","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1203\/00006450-197911000-00018","article-title":"Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I","volume":"13","author":"Haskins","year":"1979","journal-title":"Pediatr. Res."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0290","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1006\/geno.1999.5825","article-title":"Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII","volume":"58","author":"Fyfe","year":"1999","journal-title":"Genomics"},{"issue":"4","key":"10.1016\/j.ymgme.2024.108535_bb0295","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1172\/JCI114010","article-title":"Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency","volume":"83","author":"Birkenmeier","year":"1989","journal-title":"J. Clin. Invest."},{"issue":"4","key":"10.1016\/j.ymgme.2024.108535_bb0300","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."},{"issue":"12","key":"10.1016\/j.ymgme.2024.108535_bb0305","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1093\/glycob\/9.12.1389","article-title":"A mouse model for mucopolysaccharidosis type III a (Sanfilippo syndrome)","volume":"9","author":"Bhaumik","year":"1999","journal-title":"Glycobiology"},{"issue":"439","key":"10.1016\/j.ymgme.2024.108535_bb0310","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."},{"issue":"Pt 2","key":"10.1016\/j.ymgme.2024.108535_bb0315","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1093\/brain\/awu355","article-title":"Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model [published correction appears in brain. 2015 Jul;138(Pt 7):e366. Doi: 10.1093\/brain\/awv035]","volume":"138","author":"Martins","year":"2015","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.ymgme.2024.108535_bb0320","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1021\/acs.molpharmaceut.0c00831","article-title":"Enzyme replacement therapy for mucopolysaccharidosis IIID using recombinant human \u03b1-N-acetylglucosamine-6-sulfatase in neonatal mice","volume":"18","author":"Wang","year":"2021","journal-title":"Mol. Pharm."},{"issue":"19","key":"10.1016\/j.ymgme.2024.108535_bb0325","doi-asserted-by":"crossref","first-page":"11724","DOI":"10.3390\/ijms231911724","article-title":"Pathogenic roles of heparan sulfate and its use as a biomarker in mucopolysaccharidoses","volume":"23","author":"Minami","year":"2022","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymgme.2024.108535_bb0330","doi-asserted-by":"crossref","unstructured":"Hemsley KM, Norman EJ, Crawley AC, et al. Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs--a proof of principle study. Mol. Genet. Metab. 2009;98(4):383\u2013392. doi:https:\/\/doi.org\/10.1016\/j.ymgme.2009.07.013.","DOI":"10.1016\/j.ymgme.2009.07.013"},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0335","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/s10545-014-9790-8","article-title":"Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA huntaway dog brain","volume":"38","author":"King","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108535_bb0340","doi-asserted-by":"crossref","first-page":"20365","DOI":"10.1038\/s41598-020-77032-y","article-title":"Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions","volume":"10","author":"Egeland","year":"2020","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ymgme.2024.108535_bb0345","article-title":"Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice","volume":"21","author":"Gustavsson","year":"2019","journal-title":"Mol Gen Met Rep"},{"issue":"7\u20138","key":"10.1016\/j.ymgme.2024.108535_bb0350","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1089\/hum.2020.253","article-title":"Systemic scAAV9.U1a.hSGSH delivery corrects brain biochemistry in mucopolysaccharidosis type IIIA at early and later stages of disease","volume":"32","author":"Saville","year":"2021","journal-title":"Hum. Gene Ther."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0355","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."},{"issue":"1","key":"10.1016\/j.ymgme.2024.108535_bb0360","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1177\/0300985820960128","article-title":"Temporospatial development of neuropathologic findings in a canine model of mucopolysaccharidosis IIIB","volume":"58","author":"Harm","year":"2021","journal-title":"Vet. Pathol."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0365","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2023.107972","article-title":"Interim analysis of a phase 1\/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II","volume":"141","author":"Muenzer","year":"2024","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0370","article-title":"Identification of a biomarker that differentiates neuronopathic forms of MPS I and MPS II. Presented at WORLDSymposium, 6\u201311 February 2022, San Diego, CA","volume":"135","author":"Boulos","year":"2022","journal-title":"Abstracts Mol. Gen. Met."},{"issue":"3","key":"10.1016\/j.ymgme.2024.108535_bb0375","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.ymgme.2016.05.006","article-title":"A phase 1\/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA","volume":"118","author":"Jones","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2024.108535_bb0385","doi-asserted-by":"crossref","unstructured":"Ghosh A, Rust S, Langford-Smith K, et al. High dose genistein in Sanfilippo syndrome: A randomised controlled trial [published correction appears in J Inherit Metab Dis. 2023;46(1):157]. J. Inherit. Metab. Dis. 2021;44(5):1248\u20131262. doi: https:\/\/doi.org\/10.1002\/jimd.12407.","DOI":"10.1002\/jimd.12407"},{"key":"10.1016\/j.ymgme.2024.108535_bb0390","series-title":"Clinical outcomes and sustained biochemical engraftment following ex-vivo autologous stem cell gene therapy for mucopolysaccharidosis type IIIA. Presented at: WORLDSymposium; February 4\u20139, San Diego, California. Poster #166","author":"Jones","year":"2024"},{"key":"10.1016\/j.ymgme.2024.108535_bb0395","doi-asserted-by":"crossref","DOI":"10.1016\/j.jpeds.2022.06.005","article-title":"Longitudinal natural history of pediatric subjects affected with mucopolysaccharidosis IIIB","volume":"249","author":"Okur","year":"2022","journal-title":"J. Pediatr."},{"issue":"2","key":"10.1016\/j.ymgme.2024.108535_bb0400","doi-asserted-by":"crossref","DOI":"10.1172\/JCI165076","article-title":"A phase I\/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B","volume":"133","author":"Muschol","year":"2023","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2024.108535_bb0405","author":"Lau","year":"2024"},{"key":"10.1016\/j.ymgme.2024.108535_bb0410","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."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719224004190?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719224004190?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T21:38:01Z","timestamp":1722461881000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719224004190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":81,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["S1096719224004190"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2024.108535","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2024,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2024.108535","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"108535"}}