{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T18:22:23Z","timestamp":1789928543815,"version":"4.0.1"},"reference-count":140,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T00:00:00Z","timestamp":1512086400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,12,15]],"date-time":"2017-12-15T00:00:00Z","timestamp":1513296000000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1016\/j.ymgme.2017.10.007","type":"journal-article","created":{"date-parts":[[2017,10,16]],"date-time":"2017-10-16T06:02:10Z","timestamp":1508133730000},"page":"25-34","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":59,"special_numbering":"S","title":["Treatment of brain disease in the mucopolysaccharidoses"],"prefix":"10.1016","volume":"122","author":[{"given":"Maurizio","family":"Scarpa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Orchard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Schulz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia I.","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark E.","family":"Haskins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L.","family":"Escolar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9655-3686","authenticated-orcid":false,"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2017.10.007_bb0005","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2017.08.009","article-title":"Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - neurological signs and symptoms","volume":"122","author":"Shapiro","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0010","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":"10.1016\/j.ymgme.2017.10.007_bb0015","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.beem.2014.12.001","article-title":"Neuronopathic lysosomal storage disorders: approaches to treat the central nervous system","volume":"29","author":"Scarpa","year":"2015","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0020","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.2174\/138161208784705504","article-title":"Lysosomal storage diseases and the blood-brain barrier","volume":"14","author":"Begley","year":"2008","journal-title":"Curr. Pharm. Des."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0025","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 Transplant."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0030","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1053\/j.seminhematol.2009.10.008","article-title":"Transplant outcomes in mucopolysaccharidoses","volume":"47","author":"Prasad","year":"2010","journal-title":"Semin. Hematol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0035","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/8904_2014_395","article-title":"Long-term functional outcomes of children with Hurler syndrome treated with unrelated umbilical cord blood transplantation","volume":"20","author":"Coletti","year":"2015","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0040","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1056\/NEJMoa032613","article-title":"Cord-blood transplants from unrelated donors in patients with Hurler's syndrome","volume":"350","author":"Staba","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0045","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1056\/NEJM198412203112504","article-title":"Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation","volume":"311","author":"Krivit","year":"1984","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0050","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":"10.1016\/j.ymgme.2017.10.007_bb0055","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":"10.1016\/j.ymgme.2017.10.007_bb0060","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1182\/blood.V91.7.2601","article-title":"The Storage Disease Collaborative Study Group, Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children","volume":"91","author":"Peters","year":"1998","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0065","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1136\/adc.76.2.92","article-title":"Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres","volume":"76","author":"Vellodi","year":"1997","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0070","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1038\/sj.bmt.1704105","article-title":"Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources","volume":"31","author":"Souillet","year":"2003","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0075","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1111\/j.1469-8749.2007.00693.x","article-title":"Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study","volume":"49","author":"L\u00fccke","year":"2007","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0080","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/ajmg.1320460222","article-title":"Long-term outcome of Hurler syndrome following bone marrow transplantation","volume":"46","author":"Whitley","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0085","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.ymgme.2017.10.007_bb0090","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":"D'Aco","year":"2012","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0095","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.ymgme.2017.10.007_bb0100","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/j.bbmt.2015.02.011","article-title":"Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines","volume":"21","author":"Aldenhoven","year":"2015","journal-title":"Biol. Blood Marrow Transplant."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0105","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1002\/ana.24246","article-title":"Early treatment is associated with improved cognition in Hurler syndrome","volume":"76","author":"Poe","year":"2014","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0110","doi-asserted-by":"crossref","first-page":"2016","DOI":"10.1182\/blood-2015-02-626507","article-title":"Long-term outcomes in MPS-IH: throwing stars","volume":"125","author":"Pulsipher","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0115","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1750-1172-6-55","article-title":"Enzyme replacement therapy and\/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure","volume":"6","author":"de Ru","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0120","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/sj.bmt.1705401","article-title":"Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome","volume":"38","author":"Cox-Brinkman","year":"2006","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0125","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/sj.bmt.1705934","article-title":"Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome","volume":"41","author":"Tolar","year":"2008","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0130","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.jpeds.2008.07.004","article-title":"Use of enzyme replacement therapy (laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients","volume":"154","author":"Wynn","year":"2009","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0135","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.ymgme.2016.01.011","article-title":"Enzyme replacement therapy prior to haematopoietic stem cell transplantation in mucopolysaccharidosis type I: 10 year combined experience of 2 centres","volume":"117","author":"Ghosh","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0140","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. Pediatr."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0145","doi-asserted-by":"crossref","first-page":"E96","DOI":"10.1111\/petr.12231","article-title":"Hematopoietic stem cell transplantation effects on spinal cord compression in Hurler","volume":"18","author":"Ferrara","year":"2014","journal-title":"Pediatr. Transplant."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0150","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1016\/j.bbmt.2016.05.024","article-title":"Late effects after umbilical cord blood transplantation in very young children after busulfan-based, myeloablative conditioning","volume":"22","author":"Allewelt","year":"2016","journal-title":"Biol. Blood Marrow Transplant."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0155","doi-asserted-by":"crossref","first-page":"2979","DOI":"10.1182\/blood-2008-03-140830","article-title":"Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes","volume":"112","author":"Prasad","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0160","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1023\/A:1005526628598","article-title":"Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling","volume":"22","author":"Sivakumur","year":"1999","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0165","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":"10.1016\/j.ymgme.2017.10.007_bb0170","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1007\/BF01800232","article-title":"Bone marrow transplantation for Sanfilippo disease type B","volume":"15","author":"Vellodi","year":"1992","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0175","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":"10.1016\/j.ymgme.2017.10.007_bb0180","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":"10.1016\/j.ymgme.2017.10.007_bb0185","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1038\/sj.bmt.1701141","article-title":"Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation","volume":"21","author":"Yamada","year":"1998","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0190","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":"10.1016\/j.ymgme.2017.10.007_bb0195","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1517\/14728214.2016.1123690","article-title":"Emerging drugs for the treatment of mucopolysaccharidoses","volume":"21","author":"Giugliani","year":"2016","journal-title":"Expert Opin. Emerg. Drugs"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0200","series-title":"Fabry Disease: Perspectives from 5 Years of FOS","article-title":"Enzyme replacement therapy \u2013 a brief history","author":"Neufeld","year":"2006"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0205","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1517\/13543784.11.5.675","article-title":"Enzyme replacement therapy for the mucopolysaccharide storage disorders","volume":"11","author":"Kakkis","year":"2002","journal-title":"Expert Opin. Investig. Drugs"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0210","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1023\/B:BOLI.0000031101.12838.c6","article-title":"Enzyme replacement and enhancement therapies for lysosomal diseases","volume":"27","author":"Desnick","year":"2004","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0215","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.ymgme.2005.04.013","article-title":"Penetration, diffusion, and uptake of recombinant human alpha-L-iduronidase after intraventricular injection into the rat brain","volume":"86","author":"Belichenko","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0220","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0030341","article-title":"CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: implications for neurological outcomes of lysosomal storage disorder","volume":"7","author":"Calias","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0225","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1111\/j.1601-183X.2008.00413.x","article-title":"Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA mice","volume":"7","author":"Hemsley","year":"2008","journal-title":"Genes Brain Behav."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0230","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.taap.2014.03.005","article-title":"Recombinant human tripeptidyl peptidase-1 infusion to the monkey CNS: safety, pharmacokinetics, and distribution","volume":"277","author":"Vuillemenot","year":"2014","journal-title":"Toxicol. Appl. Pharmacol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0235","doi-asserted-by":"crossref","first-page":"60ra89","DOI":"10.1126\/scitranslmed.3001380","article-title":"Replacing the enzyme a-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."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0240","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.ymgme.2006.12.012","article-title":"Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid","volume":"91","author":"Dickson","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0245","doi-asserted-by":"crossref","first-page":"946","DOI":"10.2174\/138920111795542642","article-title":"Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients","volume":"12","author":"Dickson","year":"2011","journal-title":"Curr. Pharm. Biotechnol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0250","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.ymgme.2011.03.011","article-title":"Biodistribution and pharmacodynamics of recombinant human alpha-L-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations","volume":"103","author":"Vite","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0255","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.pharmthera.2014.05.009","article-title":"Intrathecal delivery of protein therapeutics to the brain: a critical reassessment","volume":"144","author":"Calias","year":"2014","journal-title":"Pharmacol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0260","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."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0265","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":"10.1016\/j.ymgme.2017.10.007_bb0270","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":"161A","author":"Sohn","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0275","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ymgme.2004.07.003","article-title":"Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I","volume":"83","author":"Kakkis","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0280","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1177\/0192623311409595","article-title":"Safety evaluation of chronic intrathecal administration of idursulfase-IT in cynomolgus monkeys","volume":"39","author":"Felice","year":"2011","journal-title":"Toxicol. Pathol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0285","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.ymgme.2009.07.013","article-title":"Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs - a proof of principle study","volume":"98","author":"Hemsley","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0290","first-page":"163","article-title":"Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type I","volume":"63","author":"Vite","year":"2013","journal-title":"Comp. Med."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0295","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1038\/pr.2011.13","article-title":"Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats","volume":"71","author":"Auclair","year":"2012","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0300","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."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0305","doi-asserted-by":"crossref","first-page":"2538","DOI":"10.1002\/ajmg.a.32294","article-title":"Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression","volume":"146A","author":"Munoz-Rojas","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0310","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/j.ymgme.2009.11.008","article-title":"Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis","volume":"99","author":"Mu\u00f1oz-Rojas","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0315","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ymgme.2015.07.005","article-title":"Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I","volume":"116","author":"Dickson","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0320","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.ymgme.2017.10.007_bb0325","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.2017.10.007_bb0330","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1002\/ajmg.a.38073","article-title":"Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I","volume":"173","author":"Nestrasil","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0335","series-title":"Presentation (LB-12) at 13th Annual WORLD Symposium, San Diego, USA","article-title":"Preliminary safety and pharmacodynamic response data from a phase 1\/2 study of ICV BMN 250, a novel enzyme replacement therapy for the treatment of Sanfilippo B syndrome (MPS IIIB)","author":"de Castro Lopez","year":"2017"},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2017.10.007_bb0340","first-page":"S51","article-title":"Intracerebroventricular cerliponase alfa (BMN 190) in children with CLN2 disease: results from a phase 1\/2, open-label, dose-escalation study","volume":"39","author":"Schulz","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0345","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1038\/pr.2013.158","article-title":"The immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients","volume":"74","author":"Vera","year":"2013","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0350","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.ymgme.2014.09.011","article-title":"Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier","volume":"114","author":"Aronovich","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0355","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1002\/jgm.1489","article-title":"Correction of mucopolysaccharidosis type IIIA somatic and central nervous system pathology by lentiviral-mediated gene transfer","volume":"12","author":"McIntyre","year":"2010","journal-title":"J. Gene Med."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0360","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1002\/emmm.201202083","article-title":"A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA","volume":"5","author":"Sorrentino","year":"2013","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0365","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.ymgme.2010.08.013","article-title":"Comparison of ventricular and intravenous lentiviral-mediated gene therapy for murine MPS VII","volume":"101","author":"Bielicki","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0370","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1038\/mt.2012.9","article-title":"Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats","volume":"20","author":"Ponder","year":"2012","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0375","doi-asserted-by":"crossref","first-page":"1874","DOI":"10.1038\/sj.gt.3302087","article-title":"Adeno-associated virus vector-mediated transduction in the cat brain","volume":"10","author":"Vite","year":"2003","journal-title":"Gene Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0380","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1002\/jgm.1480","article-title":"Restoration of central nervous system \u03b1-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery","volume":"12","author":"Fu","year":"2010","journal-title":"J. Gene Med."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0385","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1038\/mt.2010.17","article-title":"Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB","volume":"18","author":"Heldermon","year":"2010","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0390","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.ymgme.2017.10.007_bb0395","doi-asserted-by":"crossref","first-page":"9321","DOI":"10.1523\/JNEUROSCI.2936-05.2005","article-title":"Functional correction of CNS phenotypes in a lysosomal storage disease model using adeno-associated virus type 4 vectors","volume":"25","author":"Liu","year":"2005","journal-title":"J. Neurosci."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0400","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1227\/NEU.0000000000000157","article-title":"Comparison of endovascular and intraventricular gene therapy with adeno-associated virus-\u03b1-L-iduronidase for Hurler disease","volume":"74","author":"Janson","year":"2014","journal-title":"Neurosurgery"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0405","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/ana.20150","article-title":"Prevention of neuropathology in the mouse model of Hurler syndrome","volume":"56","author":"Desmaris","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0410","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.1038\/mt.2014.135","article-title":"Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I","volume":"22","author":"Hinderer","year":"2014","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0415","doi-asserted-by":"crossref","first-page":"1298","DOI":"10.1038\/mt.2015.99","article-title":"Neonatal systemic AAV induces tolerance to CNS gene therapy in MPS I dogs and nonhuman primates","volume":"23","author":"Hinderer","year":"2015","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0420","doi-asserted-by":"crossref","first-page":"2693","DOI":"10.1093\/hmg\/ddm223","article-title":"Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes","volume":"16","author":"Fraldi","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0425","doi-asserted-by":"crossref","first-page":"3254","DOI":"10.1172\/JCI66778","article-title":"Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy","volume":"123","author":"Haurigot","year":"2013","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0430","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/hmg\/ddu727","article-title":"Biochemical, histological and functional correction of mucopolysaccharidosis type IIIB by intra-cerebrospinal fluid gene therapy","volume":"24","author":"Ribera","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0435","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1038\/mt.2015.189","article-title":"Evaluation of AAV-mediated gene therapy for central nervous system disease in canine mucopolysaccharidosis VII","volume":"24","author":"Gurda","year":"2016","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0440","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/jgm.2816","article-title":"Correction of murine mucopolysaccharidosis type IIIA central nervous system pathology by intracerebroventricular lentiviral-mediated gene delivery","volume":"16","author":"McIntyre","year":"2014","journal-title":"J. Gene Med."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0445","doi-asserted-by":"crossref","first-page":"10229","DOI":"10.1523\/JNEUROSCI.3558-04.2004","article-title":"Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum","volume":"24","author":"Cressant","year":"2004","journal-title":"J. Neurosci."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0450","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.ymgme.2017.10.007_bb0455","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.ymthe.2004.10.006","article-title":"Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector","volume":"11","author":"Kobayashi","year":"2005","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0460","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1007\/s10545-012-9530-x","article-title":"Retroviral vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits","volume":"36","author":"Baldo","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0465","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":"10.1016\/j.ymgme.2017.10.007_bb0470","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.ymgme.2017.10.007_bb0475","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.ymgme.2017.10.007_bb0480","doi-asserted-by":"crossref","first-page":"13102","DOI":"10.1073\/pnas.192353499","article-title":"Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs","volume":"99","author":"Ponder","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0485","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1038\/sj.mt.6300201","article-title":"Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy","volume":"15","author":"Traas","year":"2007","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0490","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.ymgme.2017.10.007_bb0495","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1089\/hum.2005.16.81","article-title":"Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector","volume":"16","author":"Di Domenico","year":"2005","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0500","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1002\/ana.20870","article-title":"Gene therapy of the brain in the dog model of Hurler's syndrome","volume":"60","author":"Ciron","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0505","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.ymgme.2017.10.007_bb0510","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1038\/mt.2012.82","article-title":"Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice","volume":"20","author":"Langford-Smith","year":"2012","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0515","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.ymgme.2017.10.007_bb0520","doi-asserted-by":"crossref","first-page":"5130","DOI":"10.1182\/blood-2010-04-278234","article-title":"Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model","volume":"116","author":"Visigalli","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0525","doi-asserted-by":"crossref","first-page":"2028","DOI":"10.1038\/mt.2014.152","article-title":"Normalization and improvement of CNS deficits in mice with Hurler syndrome after long-term peripheral delivery of BBB-targeted iduronidase","volume":"22","author":"El-Amouri","year":"2014","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0530","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1517\/17425247.2.2.299","article-title":"Targeted delivery across the blood-brain barrier","volume":"2","author":"Gaillard","year":"2005","journal-title":"Expert Opin. Drug Deliv."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0535","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1038\/mt.2008.119","article-title":"Targeting of the CNS in MPS-IH using a nonviral transferrin-\u03b1-L-iduronidase fusion gene product","volume":"16","author":"Osborn","year":"2008","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0540","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1021\/mp200136x","article-title":"Reversal of lysosomal storage in brain of adult MPS-I mice with intravenous Trojan horse-iduronidase fusion protein","volume":"8","author":"Boado","year":"2011","journal-title":"Mol. Pharm."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0545","doi-asserted-by":"crossref","first-page":"2999","DOI":"10.1073\/pnas.1222742110","article-title":"Engineering a lysosomal enzyme with a derivative of receptor-binding domain of apoE enables delivery across the blood-brain barrier","volume":"110","author":"Wang","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0550","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1002\/bit.21602","article-title":"Genetic engineering of a lysosomal enzyme fusion protein for targeted delivery across the human blood-brain barrier","volume":"99","author":"Boado","year":"2008","journal-title":"Biotechnol. Bioeng."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0555","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1124\/dmd.112.046375","article-title":"Glycemic control and chronic dosing of rhesus monkeys with a fusion protein of iduronidase and a monoclonal antibody against the human insulin receptor","volume":"40","author":"Boado","year":"2012","journal-title":"Drug Metab. Dispos."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0560","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":"10.1016\/j.ymgme.2017.10.007_bb0565","doi-asserted-by":"crossref","first-page":"2928","DOI":"10.1021\/mp500258p","article-title":"Insulin receptor antibody-sulfamidase fusion protein penetrates the primate blood-brain barrier and reduces glycosoaminoglycans in Sanfilippo type A cells","volume":"11","author":"Boado","year":"2014","journal-title":"Mol. Pharm."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0570","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.pneurobio.2009.05.002","article-title":"Nanotechnological applications for the treatment of neurodegenerative disorders","volume":"88","author":"Modi","year":"2009","journal-title":"Prog. Neurobiol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0575","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.jconrel.2009.03.002","article-title":"Albumin nanoparticles targeted with Apo E enter the CNS by transcytosis and are delivered to neurones","volume":"137","author":"Zensi","year":"2009","journal-title":"J. Control. Release"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0580","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1007\/s11095-014-1508-y","article-title":"Laronidase-functionalized multiple-wall lipid-core nanocapsules: promising formulation for a more effective treatment of mucopolysaccharidosis type I","volume":"32","author":"Mayer","year":"2015","journal-title":"Pharm. Res."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0585","first-page":"549","article-title":"Development of nanoparticle-bound arylsulfatase B for enzyme replacement therapy of mucopolysaccharidosis VI","volume":"68","author":"M\u00fchlstein","year":"2013","journal-title":"Pharmazie"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0590","doi-asserted-by":"crossref","first-page":"e0156452","DOI":"10.1371\/journal.pone.0156452","article-title":"Targeted polymeric nanoparticles for brain delivery of high molecular weight molecules in lysosomal storage disorders","volume":"11","author":"Salvalaio","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0595","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1016\/j.bbadis.2016.05.021","article-title":"Oxidative and nitrative stress and pro-inflammatory cytokines in mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation","volume":"1862","author":"Jacques","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0600","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0014192","article-title":"Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease","volume":"5","author":"Malinowska","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0605","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1111\/j.1476-5381.2009.00565.x","article-title":"Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II","volume":"159","author":"Friso","year":"2010","journal-title":"Br. J. Pharmacol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0610","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1203\/01.pdr.0000233037.00707.da","article-title":"Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA","volume":"60","author":"Roberts","year":"2006","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0615","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.ymgme.2007.06.016","article-title":"Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA","volume":"92","author":"Roberts","year":"2007","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0620","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.curtheres.2008.04.002","article-title":"Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: an open-label, pilot study in 10 pediatric patients","volume":"69","author":"Piotrowska","year":"2008","journal-title":"Curr. Ther. Res. Clin. Exp."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0625","doi-asserted-by":"crossref","first-page":"CR196","DOI":"10.12659\/MSM.881715","article-title":"Two-year follow-up of Sanfilippo disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients","volume":"17","author":"Piotrowska","year":"2011","journal-title":"Med. Sci. Monit."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0630","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.ymgme.2017.10.007_bb0635","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/hmg\/10.3.291","article-title":"Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of \u03b1-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation","volume":"10","author":"Keeling","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0640","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/8904_2013_270","article-title":"Aminoglycoside-induced premature stop codon read-through of mucopolysaccharidosis type I patient Q70X and W402X mutations in cultured cells","volume":"13","author":"Kamei","year":"2014","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0645","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s10545-012-9521-y","article-title":"Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI","volume":"36","author":"Bartolomeo","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0650","first-page":"194","article-title":"Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients","volume":"14","author":"Mayer","year":"2013","journal-title":"Curr. Pharm. Biotechnol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0655","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.jmb.2004.03.012","article-title":"\u03b1-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients","volume":"338","author":"Hein","year":"2004","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0660","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ymgme.2011.10.005","article-title":"The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse","volume":"105","author":"Wang","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0665","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.nmd.2014.11.011","article-title":"European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene","volume":"25","author":"Haas","year":"2015","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0670","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1186\/s13023-014-0180-y","article-title":"Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations","volume":"9","author":"Matos","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0675","doi-asserted-by":"crossref","first-page":"6560","DOI":"10.1073\/pnas.0711491105","article-title":"Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB","volume":"105","author":"Ficko-Blean","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0680","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0007434","article-title":"Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C","volume":"4","author":"Feldhammer","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2017.10.007_bb0685","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1023\/B:BOLI.0000042959.44318.7c","article-title":"Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease","volume":"27","author":"Schueler","year":"2004","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0690","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/emmm.200900036","article-title":"Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics","volume":"1","author":"Parenti","year":"2009","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0695","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1093\/hmg\/ddx058","article-title":"Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID","volume":"26","author":"Roca","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2017.10.007_bb0700","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1089\/hum.2017.187","article-title":"Intranasal AAV mediated gene delivery and expression of human iduronidase in the CNS: a non-invasive and effective approach for prevention of neurologic disease in mucopolysaccharidosis type I","volume":"28","author":"Belur","year":"2017","journal-title":"Hum. Gene Ther."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217305280?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217305280?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T23:02:17Z","timestamp":1603148537000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217305280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12]]},"references-count":140,"alternative-id":["S1096719217305280"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.10.007","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2017,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Treatment of brain disease in the mucopolysaccharidoses","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.10.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc.","name":"copyright","label":"Copyright"}]}}