{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T08:32:52Z","timestamp":1717662772232},"reference-count":17,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives de P\u00e9diatrie"],"published-print":{"date-parts":[[2008,1]]},"DOI":"10.1016\/j.arcped.2007.08.026","type":"journal-article","created":{"date-parts":[[2008,1,7]],"date-time":"2008-01-07T07:36:19Z","timestamp":1199691379000},"page":"45-49","source":"Crossref","is-referenced-by-count":6,"title":["Mucopolysaccharidose de type I\u00a0: int\u00e9r\u00eat d\u2019un diagnostic et d\u2019une enzymoth\u00e9rapie substitutive pr\u00e9coces. \u00c0 propos d\u2019un cas"],"prefix":"10.1016","volume":"15","author":[{"given":"C.","family":"Dupont","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. El","family":"Hachem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Harchaoui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Ribault","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Amiour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Guillot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Maire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Froissart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Guffon-Fouilhoux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.arcped.2007.08.026_bib1","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"issue":"5 suppl","key":"10.1016\/j.arcped.2007.08.026_bib2","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.1016\/j.jpeds.2004.01.052","article-title":"The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations","volume":"144","author":"Muenzer","year":"2004","journal-title":"J Pediatr"},{"key":"10.1016\/j.arcped.2007.08.026_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.survophthal.2005.11.007","article-title":"Mucopolysaccharidoses and the eye","volume":"51","author":"Ashworth","year":"2006","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.arcped.2007.08.026_bib4","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.amjcard.2006.02.047","article-title":"Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis typeI","volume":"98","author":"Braunlin","year":"2006","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.arcped.2007.08.026_bib5","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.arcped.2007.08.026_bib6","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1056\/NEJMp048084","article-title":"Advances in the treatment of mucopolysaccharidosis typeI","volume":"350","author":"Muenzer","year":"2004","journal-title":"N Engl J Med"},{"issue":"5 Suppl","key":"10.1016\/j.arcped.2007.08.026_bib7","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1016\/j.jpeds.2004.01.049","article-title":"Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care","volume":"144","author":"Wilcox","year":"2004","journal-title":"J Pediatr"},{"key":"10.1016\/j.arcped.2007.08.026_bib8","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1651-2227.2003.tb00215.x","article-title":"Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies","volume":"92","author":"Brady","year":"2003","journal-title":"Acta Paediatr Suppl"},{"key":"10.1016\/j.arcped.2007.08.026_bib9","doi-asserted-by":"crossref","first-page":"e448","DOI":"10.1542\/peds.113.5.e448","article-title":"Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk","volume":"113","author":"Van den Hout","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/j.arcped.2007.08.026_bib10","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1056\/NEJM200101183440304","article-title":"Enzyme-replacement therapy in mucopolysaccharidosisI","volume":"344","author":"Kakkis","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1016\/j.arcped.2007.08.026_bib11","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.jpeds.2004.01.046","article-title":"Enzyme replacement therapy for mucopolysaccharidosisI: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)","volume":"144","author":"Wraith","year":"2004","journal-title":"J Pediatr"},{"key":"10.1016\/j.arcped.2007.08.026_bib12","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1517\/14656566.6.3.489","article-title":"The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosisI","volume":"6","author":"Wraith","year":"2005","journal-title":"Expert Opin Pharmacother"},{"key":"10.1016\/j.arcped.2007.08.026_bib13","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ymgme.2006.08.007","article-title":"A follow-up study of MPSI patients treated with laronidase enzyme replacement therapy for 6 years","volume":"90","author":"Sifuentes","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.arcped.2007.08.026_bib14","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/humu.1380010204","article-title":"A common mutation for mucopolysaccharidosis typeI associated with a severe Hurler syndrome phenotype","volume":"1","author":"Scott","year":"1992","journal-title":"Hum Mutat"},{"key":"10.1016\/j.arcped.2007.08.026_bib15","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/humu.1380010412","article-title":"Alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype","volume":"1","author":"Scott","year":"1992","journal-title":"Hum Mutat"},{"key":"10.1016\/j.arcped.2007.08.026_bib16","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 MPSI","volume":"83","author":"Kakkis","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.arcped.2007.08.026_bib17","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 mucopolysaccharidosisI","volume":"361","author":"Kakavanos","year":"2003","journal-title":"Lancet"}],"container-title":["Archives de P\u00e9diatrie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X07005866?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X07005866?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T17:22:34Z","timestamp":1546363354000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0929693X07005866"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,1]]}},"alternative-id":["S0929693X07005866"],"URL":"https:\/\/doi.org\/10.1016\/j.arcped.2007.08.026","relation":{},"ISSN":["0929-693X"],"issn-type":[{"value":"0929-693X","type":"print"}],"subject":[],"published":{"date-parts":[[2008,1]]}}}