{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T02:35:29Z","timestamp":1787106929507,"version":"build-2736575974"},"reference-count":27,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T00:00:00Z","timestamp":1120176000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T00:00:00Z","timestamp":1120176000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T00:00:00Z","timestamp":1787097600000},"content-version":"vor","delay-in-days":7719,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Anales de Pediatr\u00eda"],"published-print":{"date-parts":[[2005,7]]},"DOI":"10.1157\/13076769","type":"journal-article","created":{"date-parts":[[2005,7,1]],"date-time":"2005-07-01T09:04:06Z","timestamp":1120208646000},"page":"61-67","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Evoluci\u00f3n de dos pacientes con s\u00edndrome de Hurler en tratamiento con enzima recombinante humana \u03b1-L-iduronidasa"],"prefix":"10.1016","volume":"63","author":[{"given":"O.","family":"Sard\u00f3n","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Garc\u00eda Pardos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Mintegui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"P\u00e9rez Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Coll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Chab\u00e1s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Oliv\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ruiz Benito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1157\/13076769_bib1","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/ajmg.a.20314","article-title":"Incidence of the mucopolysaccharidosis in Western Australia","volume":"123","author":"Nelson","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1157\/13076769_bib2","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1097\/01.GIM.0000078027.83236.49","article-title":"Can mucopolysaccharidosis type I disease be predicted based on patient\u2019s genotype? A comprehensive review of the literature","volume":"5","author":"Terlato","year":"2003","journal-title":"Genet Med"},{"key":"10.1157\/13076769_bib3","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/humu.20081","article-title":"Identification and molecular characterization of \u03b1-L-iduronidase mutations present in mucopolysaccharidosis type I undergoing enzyme replacement therapy","volume":"24","author":"Yogalingam","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1157\/13076769_bib4","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.jmb.2004.03.012","article-title":"Alpha-L-iduronidase premature stop codons and potential reathrough in mucopolysaccharidosis type I patients","volume":"338","author":"Hein","year":"2004","journal-title":"J Mol Biol"},{"key":"10.1157\/13076769_bib5","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<332::AID-HUMU16>3.0.CO;2-P","article-title":"Analysis of five mutations in 20 mucopolysaccharidosis type 1 patients: High prevalence of the W402 X mutation","volume":"11","author":"Gort","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1157\/13076769_bib6","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/S0188-4409(01)00334-4","article-title":"Detection of mucopolysaccharidosis type 1 heterozygotes based on the biochemical characteristics of leukocyte \u03b1-L-iduronidase","volume":"33","author":"Mandelli","year":"2002","journal-title":"Arch Med Res"},{"key":"10.1157\/13076769_bib7","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1136\/jmg.10.2.144","article-title":"Early prenatal diagnosis of Hurler\u2019s syndrome with termination of pregnacy and confirmatory findings on the fetus","volume":"10","author":"Crawfurd","year":"1973","journal-title":"J Med Genet"},{"key":"10.1157\/13076769_bib8","first-page":"1045","article-title":"From cytases to lysosomes. Identification of lysosomal organelles and postulated use of replacement therapy","volume":"23","author":"De Duve","year":"1964","journal-title":"Fed Proc"},{"key":"10.1157\/13076769_bib9","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/S0140-6736(81)91046-1","article-title":"Reversal of clinical features of Hurler\u2019s disease and biochemical improvement after treatment by bone-marrow transplantation","volume":"2","author":"Hobbs","year":"1981","journal-title":"Lancet"},{"key":"10.1157\/13076769_bib10","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1056\/NEJM200101183440304","article-title":"Enzyme replacement therapy in mucopolysaccharidosis I","volume":"344","author":"Kakkis","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1157\/13076769_bib11","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.jpeds.2004.01.046","article-title":"Enzyme replacement therapy for mucopolysaccharidosis I: A randomized double-blinded, placebo-controlled, multinational study of recombinant human \u03b1-L-iduronidase","volume":"144","author":"Wraith James","year":"2004","journal-title":"J Pediatr"},{"key":"10.1157\/13076769_bib12","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1517\/14712598.2.8.967","article-title":"Alpha-L-iduronidase and enzyme replacement therapy for mucopolysaccharidosis I","volume":"2","author":"Brooks","year":"2002","journal-title":"Expert Opin Biol Ther"},{"key":"10.1157\/13076769_bib13","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":"10.1157\/13076769_bib14","series-title":"Monitoring of MPS I treatments using urinary glycosaminoglycans as a bio-marker. Annual Symposium on Lysosomal storage disorders, Spain 2004","author":"Thornley","year":"2004"},{"key":"10.1157\/13076769_bib15","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1016\/S0140-6736(03)13311-9","article-title":"Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I","volume":"361","author":"Kakabanos","year":"2003","journal-title":"Lancet"},{"key":"10.1157\/13076769_bib16","series-title":"Enzyme replacement therapy in MPS I: Preliminary data in children less than 5 years of age. Inherited Metabolic Disorders, Orlando 2004","author":"Guffon","year":"2004"},{"key":"10.1157\/13076769_bib17","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/S0022-3476(98)70201-X","article-title":"Follow-up of nine patients with Hurler syndrome after bone marrow transplantation","volume":"133","author":"Guffon","year":"1998","journal-title":"J Pediatr"},{"key":"10.1157\/13076769_bib18","doi-asserted-by":"crossref","first-page":"4894","DOI":"10.1182\/blood.V87.11.4894.bloodjournal87114894","article-title":"Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome","volume":"87","author":"Peters","year":"1996","journal-title":"Blood"},{"key":"10.1157\/13076769_bib19","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/sj.bmt.1703395","article-title":"Outcome of second hematopoietic cell transplantation in Hurler syndrome","volume":"29","author":"Grewal","year":"2002","journal-title":"Bone Marrow Transplant"},{"key":"10.1157\/13076769_bib20","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1097\/01241398-200401000-00019","article-title":"Musculoskeletal manifestations of Hurler syndrome: Long-term follow-up after bone marrow transplantation","volume":"24","author":"Weisstein","year":"2004","journal-title":"J Pediatr Orthop"},{"key":"10.1157\/13076769_bib21","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/sj.bmt.1704115","article-title":"Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature","volume":"32","author":"Gassas","year":"2003","journal-title":"Bone Marrow Transplant"},{"key":"10.1157\/13076769_bib22","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1056\/NEJMoa032613","article-title":"Cord-blood transplants from unrelated donors in patients with Hurler\u2019s syndrome","volume":"350","author":"Staba","year":"2004","journal-title":"N Engl J Med"},{"key":"10.1157\/13076769_bib23","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1038\/sj.bmt.1704105","article-title":"Outcome of 27 patients with Hurler\u2019s syndrome transplanted from either related or unrelated haematopoietic stem cell sources","volume":"31","author":"Souillet","year":"2003","journal-title":"Bone Marrow Transplant"},{"key":"10.1157\/13076769_bib24","series-title":"MPS IH (Hurler Syndrome): Enzyme replacement therapy prior to bone marrow transplantation. Annual Symposium on Lysosomal storage disorders, Spain 2004","author":"Wright","year":"2004"},{"key":"10.1157\/13076769_bib25","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1034\/j.1399-3046.1999.00050.x","article-title":"Gene therapy of genetic diseases and cancer","volume":"3","author":"Melvor","year":"1999","journal-title":"Pediatr Transplant"},{"key":"10.1157\/13076769_bib26","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1182\/blood.V99.5.1857","article-title":"Retrovirally mediated correction of bone marrow-derived mesenchymal stem cells from patients with mucopolysaccharidosis type I","volume":"99","author":"Baxter","year":"2002","journal-title":"Blood"},{"key":"10.1157\/13076769_bib27","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"}],"container-title":["Anales de Pediatr\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1695403305701417?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1695403305701417?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T02:15:01Z","timestamp":1787105701000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1695403305701417"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,7]]}},"alternative-id":["S1695403305701417"],"URL":"https:\/\/doi.org\/10.1157\/13076769","relation":{},"ISSN":["1695-4033"],"issn-type":[{"value":"1695-4033","type":"print"}],"subject":[],"published":{"date-parts":[[2005,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Evoluci\u00f3n de dos pacientes con s\u00edndrome de Hurler en tratamiento con enzima recombinante humana \u03b1-L-iduronidasa","name":"articletitle","label":"Article Title"},{"value":"Anales de Pediatr\u00eda","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1157\/13076769","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2005 Asociaci\u00f3n Espa\u00f1ola de Pediatr\u00eda. Published by Elsevier Espa\u00f1a S.L. All rights reserved.","name":"copyright","label":"Copyright"}]}}