{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T14:26:33Z","timestamp":1794320793068,"version":"4.9.0"},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s13023-017-0662-9","type":"journal-article","created":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T20:40:56Z","timestamp":1497559256000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":78,"title":["Open issues in Mucopolysaccharidosis type I-Hurler"],"prefix":"10.1186","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4505-1306","authenticated-orcid":false,"given":"Rossella","family":"Parini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Deodato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Lanino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Locatelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Messina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attilio","family":"Rovelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Scarpa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,6,15]]},"reference":[{"key":"662_CR1","first-page":"3421","volume-title":"The Metabolic and Nolecular Basis of Inherited Disease","author":"EF Neufeld","year":"2001","unstructured":"Neufeld EF, Muenzer J. The Mucopolysaccaridoses. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Nolecular Basis of Inherited Disease. New York: Mc Graw Hill; 2001. p. 3421\u201352."},{"issue":"1","key":"662_CR2","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1542\/peds.2008-0416","volume":"123","author":"J Muenzer","year":"2009","unstructured":"Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19\u201329.","journal-title":"Pediatrics"},{"issue":"8249","key":"662_CR3","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/S0140-6736(81)91046-1","volume":"2","author":"JR Hobbs","year":"1981","unstructured":"Hobbs JR, Hugh-Jones K, Barrett AJ, Byrom N, Chambers D, Henry K, et al. Reversal of clinical features of Hurler\u2019s disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet. 1981;2(8249):709\u201312.","journal-title":"Lancet"},{"issue":"5","key":"662_CR4","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.bbmt.2008.01.009","volume":"14","author":"M Aldenhoven","year":"2008","unstructured":"Aldenhoven M, Boelens JJ, de Koning TJ. The clinical outcome of Hurler syndrome after stem cell transplantation. Biol Blood Marrow Transplant. 2008;14(5):485\u201398.","journal-title":"Biol Blood Marrow Transplant"},{"issue":"3","key":"662_CR5","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/sj.bmt.1705718","volume":"40","author":"JJ Boelens","year":"2007","unstructured":"Boelens JJ, Wynn RF, O\u2019Meara A, Veys P, Bertrand Y, Souillet G, et al. Outcomes of hematopoietic stem cell transplantation for Hurler\u2019s syndrome in Europe: a risk factor analysis for graft failure. Bone Marrow Transplant. 2007;40(3):225\u201333.","journal-title":"Bone Marrow Transplant"},{"key":"662_CR6","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1750-1172-6-55","volume":"6","author":"MH Ru de","year":"2011","unstructured":"de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, et al. Enzyme replacement therapy and\/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis. 2011;6:55.","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"662_CR7","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/j.bbmt.2015.02.011","volume":"21","author":"M Aldenhoven","year":"2015","unstructured":"Aldenhoven M, Jones SA, Bonney D, Borrill RE, Coussons M, Mercer J, et al. Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines. Biol Blood Marrow Transplant. 2015;21(6):1106\u20139.","journal-title":"Biol Blood Marrow Transplant"},{"issue":"13","key":"662_CR8","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1182\/blood-2014-11-608075","volume":"125","author":"M Aldenhoven","year":"2015","unstructured":"Aldenhoven M, Wynn RF, Orchard PJ, O\u2019Meara A, Veys P, Fischer A, et al. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood. 2015;125(13):2164\u201372.","journal-title":"Blood"},{"issue":"5","key":"662_CR9","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1002\/ana.24246","volume":"76","author":"MD Poe","year":"2014","unstructured":"Poe MD, Chagnon SL, Escolar ML. Early treatment is associated with improved cognition in Hurler syndrome. Ann Neurol. 2014;76(5):747\u201353.","journal-title":"Ann Neurol"},{"issue":"3","key":"662_CR10","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1111\/bjh.13059","volume":"167","author":"JJ Boelens","year":"2014","unstructured":"Boelens JJ, Orchard PJ, Wynn RF. Transplantation in inborn errors of metabolism: current considerations and future perspectives. Br J Haematol. 2014;167(3):293\u2013303.","journal-title":"Br J Haematol"},{"key":"662_CR11","first-page":"CD009354","volume":"4","author":"E Jameson","year":"2016","unstructured":"Jameson E, Jones S, Remmington T. Enzyme replacement therapy with laronidase (Aldurazyme((R))) for treating mucopolysaccharidosis type I. Cochrane Database Syst Rev. 2016;4:CD009354.","journal-title":"Cochrane Database Syst Rev"},{"issue":"2","key":"662_CR12","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ymgme.2006.08.007","volume":"90","author":"M Sifuentes","year":"2007","unstructured":"Sifuentes M, Doroshow R, Hoft R, Mason G, Walot I, Diament M, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab. 2007;90(2):171\u201380.","journal-title":"Mol Genet Metab"},{"issue":"2","key":"662_CR13","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.ymgme.2013.11.015","volume":"111","author":"J Muenzer","year":"2014","unstructured":"Muenzer J. Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab. 2014;111(2):63\u201372.","journal-title":"Mol Genet Metab"},{"issue":"4","key":"662_CR14","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/j.jpeds.2008.11.005","volume":"154","author":"RF Wynn","year":"2009","unstructured":"Wynn RF, Wraith JE, Mercer J, O\u2019Meara A, Tylee K, Thornley M, et al. Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. J Pediatr. 2009;154(4):609\u201311.","journal-title":"J Pediatr"},{"issue":"5","key":"662_CR15","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1055\/s-0036-1584602","volume":"47","author":"JJ Boelens","year":"2016","unstructured":"Boelens JJ, van Hasselt PM. Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives. Neuropediatrics. 2016;47(5):285\u201392.","journal-title":"Neuropediatrics"},{"issue":"6","key":"662_CR16","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/sj.bmt.1705934","volume":"41","author":"J Tolar","year":"2008","unstructured":"Tolar J, Grewal SS, Bjoraker KJ, Whitley CB, Shapiro EG, Charnas L, et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant. 2008;41(6):531\u20135.","journal-title":"Bone Marrow Transplant"},{"issue":"3","key":"662_CR17","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.ymgme.2016.01.011","volume":"117","author":"A Ghosh","year":"2016","unstructured":"Ghosh A, Miller W, Orchard PJ, Jones SA, Mercer J, Church HJ, et al. Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10year combined experience of 2 centres. Mol Genet Metab. 2016;117(3):373\u20137.","journal-title":"Mol Genet Metab"},{"issue":"7","key":"662_CR18","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1182\/blood.V91.7.2601","volume":"91","author":"C Peters","year":"1998","unstructured":"Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, Klemperer MR, Cowan MJ, et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood. 1998;91(7):2601\u20138.","journal-title":"Blood"},{"issue":"19","key":"662_CR19","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1056\/NEJMoa032613","volume":"350","author":"SL Staba","year":"2004","unstructured":"Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, et al. Cord-blood transplants from unrelated donors in patients with Hurler\u2019s syndrome. N Engl J Med. 2004;350(19):1960\u20139.","journal-title":"N Engl J Med"},{"issue":"37","key":"662_CR20","doi-asserted-by":"crossref","first-page":"15018","DOI":"10.1073\/pnas.1205858109","volume":"109","author":"A Capotondo","year":"2012","unstructured":"Capotondo A, Milazzo R, Politi LS, Quattrini A, Palini A, Plati T, et al. Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation. Proc Natl Acad Sci U S A. 2012;109(37):15018\u201323.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"662_CR21","unstructured":"Wraith JE, Vellodi A, Cleary MA, Ramaswami U, Lavery C, Jessop E. Guidelines for the Investigation and Management of Mucopolysaccharidosis type I. 2005. Available at http:\/\/webarchive.nationalarchives.gov.uk\/20121107203951\/http:\/\/www.specialisedservices.nhs.uk\/library\/23\/Guidelines_for_the_Investigation_and_Management_of_Mucopolysaccharidosis_type_I.pdf . Accessed 9 June 2017."},{"key":"662_CR22","unstructured":"Andria G, Cotugno G, Fecarotta S, Gabrielli O, Rossi M, Scarpa M, et al. Raccomandazioni per la diagnosi e la cura della mucopolisaccaridosi di tipo I. 2010. AIEOP website available at: http:\/\/www.aieop.org\/web\/\/?q=lineeguida.html or aieop.org >operatori sanitari>linee guida\/consensus. Accessed 14 Dec 2016."},{"issue":"6005","key":"662_CR23","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1126\/science.1194637","volume":"330","author":"F Ginhoux","year":"2010","unstructured":"Ginhoux F, Greter M, Leboeuf M, Nandi S, See P, Gokhan S, et al. Fate mapping analysis reveals that adult microglia derive from primitive macrophages. Science. 2010;330(6005):841\u20135.","journal-title":"Science"},{"issue":"9","key":"662_CR24","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1096\/fj.04-1517fje","volume":"18","author":"AR Simard","year":"2004","unstructured":"Simard AR, Rivest S. Bone marrow stem cells have the ability to populate the entire central nervous system into fully differentiated parenchymal microglia. FASEB J. 2004;18(9):998\u20131000.","journal-title":"FASEB J"},{"issue":"3","key":"662_CR25","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1007\/s10545-011-9309-5","volume":"34","author":"E Miebach","year":"2011","unstructured":"Miebach E, Church H, Cooper A, Mercer J, Tylee K, Wynn RF, et al. The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome). J Inherit Metab Dis. 2011;34(3):755\u201361.","journal-title":"J Inherit Metab Dis"},{"issue":"5","key":"662_CR26","doi-asserted-by":"crossref","first-page":"386","DOI":"10.2106\/JBJS.O.00601","volume":"98","author":"EJ Langereis","year":"2016","unstructured":"Langereis EJ, den Os MM, Breen C, Jones SA, Knaven OC, Mercer J, et al. Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation. J Bone Joint Surg Am. 2016;98(5):386\u201395.","journal-title":"J Bone Joint Surg Am"},{"issue":"6148","key":"662_CR27","doi-asserted-by":"crossref","first-page":"1233158","DOI":"10.1126\/science.1233158","volume":"341","author":"A Biffi","year":"2013","unstructured":"Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science. 2013;341(6148):1233158.","journal-title":"Science"},{"key":"662_CR28","doi-asserted-by":"crossref","unstructured":"Visigalli I, Delai S, Ferro F, Cecere F, Vezzoli M, Sanvito F, et al. Preclinical Testing of the Safety and Tolerability of Lentiviral Vector\u2013Mediated Above-Normal Alpha-L-Iduronidase Expression in Murine and Human Hematopoietic Cells Using Toxicology and Biodistribution Good Laboratory Practice Studies.\u00a0Hum Gene Ther.\u00a02016;27(10):813\u201329.","DOI":"10.1089\/hum.2016.068"},{"issue":"6","key":"662_CR29","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.ymthe.2004.03.011","volume":"9","author":"SD Hartung","year":"2004","unstructured":"Hartung SD, Frandsen JL, Pan D, Koniar BL, Graupman P, Gunther R, et al. Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. Mol Ther. 2004;9(6):866\u201375.","journal-title":"Mol Ther"},{"issue":"5","key":"662_CR30","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.ymthe.2004.10.006","volume":"11","author":"H Kobayashi","year":"2005","unstructured":"Kobayashi H, Carbonaro D, Pepper K, Petersen D, Ge S, Jackson H, et al. Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector. Mol Ther. 2005;11(5):776\u201389.","journal-title":"Mol Ther"},{"issue":"9","key":"662_CR31","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1517\/14712598.7.9.1333","volume":"7","author":"KP Ponder","year":"2007","unstructured":"Ponder KP, Haskins ME. Gene therapy for mucopolysaccharidosis. Expert Opin Biol Ther. 2007;7(9):1333\u201345.","journal-title":"Expert Opin Biol Ther"},{"issue":"Pt 2","key":"662_CR32","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1042\/bj20031048","volume":"379","author":"JC Woloszynek","year":"2004","unstructured":"Woloszynek JC, Roberts M, Coleman T, Vogler C, Sly W, Semenkovich CF, et al. Numerous transcriptional alterations in liver persist after short-term enzyme-replacement therapy in a murine model of mucopolysaccharidosis type VII. Biochem J. 2004;379(Pt 2):461\u20139.","journal-title":"Biochem J"},{"issue":"10","key":"662_CR33","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1182\/blood-2014-06-581207","volume":"125","author":"A Pievani","year":"2015","unstructured":"Pievani A, Azario I, Antolini L, Shimada T, Patel P, Remoli C, et al. Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I. Blood. 2015;125(10):1662\u201371.","journal-title":"Blood"},{"issue":"12","key":"662_CR34","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1373\/clinchem.2008.115410","volume":"54","author":"S Blanchard","year":"2008","unstructured":"Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem. 2008;54(12):2067\u201370.","journal-title":"Clin Chem"},{"issue":"2","key":"662_CR35","doi-asserted-by":"crossref","first-page":"S66","DOI":"10.1016\/j.ymgme.2015.12.317","volume":"117","author":"KG Keating","year":"2016","unstructured":"Keating KG, Whiteaker L, Corkery J, Charrow J, Burton B. Pseudodeficiency of alpha-iduronidase is a common finding identified from newborn screening in the state of Illinois. Mol Genet Metab. 2016;117(2):S66.","journal-title":"Mol Genet Metab"},{"issue":"4","key":"662_CR36","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1097\/01.GIM.0000078027.83236.49","volume":"5","author":"NJ Terlato","year":"2003","unstructured":"Terlato NJ, Cox GF. Can mucopolysaccharidosis type I disease severity be predicted based on a patient\u2019s genotype? A comprehensive review of the literature. Genet Med. 2003;5(4):286\u201394.","journal-title":"Genet Med"},{"issue":"6","key":"662_CR37","doi-asserted-by":"crossref","first-page":"E2189","DOI":"10.1002\/humu.21479","volume":"32","author":"F Bertola","year":"2011","unstructured":"Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, et al. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles. Hum Mutat. 2011;32(6):E2189\u2013210.","journal-title":"Hum Mutat"},{"issue":"5","key":"662_CR38","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1007\/s004390100606","volume":"109","author":"CE Beesley","year":"2001","unstructured":"Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, et al. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet. 2001;109(5):503\u201311.","journal-title":"Hum Genet"},{"key":"662_CR39","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1186\/1750-1172-8-99","volume":"8","author":"SD Kingma","year":"2013","unstructured":"Kingma SD, Langereis EJ, de Klerk CM, Zoetekouw L, Wagemans T, IJlst L, et al. An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. Orphanet J Rare Dis. 2013;8:99.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"662_CR40","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.ymgme.2013.05.016","volume":"109","author":"E Oussoren","year":"2013","unstructured":"Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, et al. Residual alpha-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. Mol Genet Metab. 2013;109(4):377\u201381.","journal-title":"Mol Genet Metab"},{"issue":"1","key":"662_CR41","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1542\/peds.2007-3847","volume":"123","author":"LA Clarke","year":"2009","unstructured":"Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. 2009;123(1):229\u201340.","journal-title":"Pediatrics"},{"issue":"5","key":"662_CR42","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1007\/s10545-007-0613-z","volume":"30","author":"A Hirth","year":"2007","unstructured":"Hirth A, Berg A, Greve G. Successful treatment of severe heart failure in an infant with Hurler syndrome. J Inherit Metab Dis. 2007;30(5):820.","journal-title":"J Inherit Metab Dis"},{"issue":"2","key":"662_CR43","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s10545-012-9500-3","volume":"36","author":"DH Wiseman","year":"2013","unstructured":"Wiseman DH, Mercer J, Tylee K, Malaiya N, Bonney DK, Jones SA, et al. Management of mucopolysaccharidosis type IH (Hurler\u2019s syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution\u2019s experience. J Inherit Metab Dis. 2013;36(2):263\u201370.","journal-title":"J Inherit Metab Dis"},{"issue":"9","key":"662_CR44","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.3324\/haematol.2011.058644","volume":"97","author":"MA Saif","year":"2012","unstructured":"Saif MA, Bigger BW, Brookes KE, Mercer J, Tylee KL, Church HJ, et al. Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler\u2019s syndrome after pharmacological enzyme replacement therapy. Haematologica. 2012;97(9):1320\u20138.","journal-title":"Haematologica"},{"issue":"1","key":"662_CR45","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.jpeds.2008.07.004","volume":"154","author":"RF Wynn","year":"2009","unstructured":"Wynn RF, Mercer J, Page J, Carr TF, Jones S, Wraith JE. Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients. J Pediatr. 2009;154(1):135\u20139.","journal-title":"J Pediatr"},{"issue":"2","key":"662_CR46","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.jpeds.2012.07.052","volume":"162","author":"JB Eisengart","year":"2013","unstructured":"Eisengart JB, Rudser KD, Tolar J, Orchard PJ, Kivisto T, Ziegler RS, et al. Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome. J Pediatr. 2013;162(2):375\u201380. e371","journal-title":"J Pediatr"},{"issue":"1","key":"662_CR47","doi-asserted-by":"crossref","first-page":"e37","DOI":"10.1542\/peds.2006-2156","volume":"120","author":"JE Wraith","year":"2007","unstructured":"Wraith JE, Beck M, Lane R, van der Ploeg A, Shapiro E, Xue Y, et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics. 2007;120(1):e37\u201346.","journal-title":"Pediatrics"},{"issue":"5","key":"662_CR48","doi-asserted-by":"crossref","first-page":"e1242","DOI":"10.1542\/peds.2009-2843","volume":"126","author":"V Valayannopoulos","year":"2010","unstructured":"Valayannopoulos V, de Blic J, Mahlaoui N, Stos B, Jaubert F, Bonnet D, et al. Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation. Pediatrics. 2010;126(5):e1242\u20137.","journal-title":"Pediatrics"},{"issue":"3","key":"662_CR49","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1007\/s10545-011-9304-x","volume":"34","author":"MH Linden van der","year":"2011","unstructured":"van der Linden MH, Kruyt MC, Sakkers RJ, de Koning TJ, Oner FC, Castelein RM. Orthopaedic management of Hurler\u2019s disease after hematopoietic stem cell transplantation: a systematic review. J Inherit Metab Dis. 2011;34(3):657\u201369.","journal-title":"J Inherit Metab Dis"},{"issue":"6","key":"662_CR50","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/sj.bmt.1705586","volume":"39","author":"G Khanna","year":"2007","unstructured":"Khanna G, Van Heest AE, Agel J, Bjoraker K, Grewal S, Abel S, et al. Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation. Bone Marrow Transplant. 2007;39(6):331\u20134.","journal-title":"Bone Marrow Transplant"},{"key":"662_CR51","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1186\/1750-1172-8-155","volume":"8","author":"EJ Langereis","year":"2013","unstructured":"Langereis EJ, Borgo A, Crushell E, Harmatz PR, van Hasselt PM, Jones SA, et al. Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure. Orphanet J Rare Dis. 2013;8:155.","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"662_CR52","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s10545-012-9563-1","volume":"36","author":"R Walker","year":"2013","unstructured":"Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211\u20139.","journal-title":"J Inherit Metab Dis"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-017-0662-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T06:46:08Z","timestamp":1602312368000},"score":1,"resource":{"primary":{"URL":"http:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-017-0662-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,15]]},"references-count":52,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["662"],"URL":"https:\/\/doi.org\/10.1186\/s13023-017-0662-9","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6,15]]},"article-number":"112"}}