{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:35:07Z","timestamp":1792643707495,"version":"4.5.0"},"reference-count":29,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2007,5]]},"DOI":"10.1016\/j.ymgme.2007.01.011","type":"journal-article","created":{"date-parts":[[2007,3,3]],"date-time":"2007-03-03T13:27:56Z","timestamp":1172928476000},"page":"37-47","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":172,"title":["The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I"],"prefix":"10.1016","volume":"91","author":[{"given":"Gregory M.","family":"Pastores","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Arn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joe T.R.","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Guffon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paige","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Muenzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise Y.J.","family":"Norato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Viskochil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Edmond","family":"Wraith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2007.01.011_bib1","first-page":"923","article-title":"Comparison of outcomes research with clinical trials using preexisting data","volume":"84","author":"Canto","year":"1999","journal-title":"Am. J. Cardiol."},{"issue":"Suppl. 4","key":"10.1016\/j.ymgme.2007.01.011_bib2","first-page":"8","article-title":"Bridging regional and global perspectives","volume":"62","author":"Heufelder","year":"2004","journal-title":"Horm. Res."},{"key":"10.1016\/j.ymgme.2007.01.011_bib3","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3421","article-title":"The mucopolysaccharidoses","author":"Neufeld","year":"2001"},{"key":"10.1016\/j.ymgme.2007.01.011_bib4","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1097\/01.GIM.0000078027.83236.49","article-title":"Can mucopolysaccharidosis type I disease severity be predicted based on a patient\u2019s genotype? A comprehensive review of the literature","volume":"5","author":"Terlato","year":"2003","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2007.01.011_bib5","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/humu.1380060403","article-title":"Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications","volume":"6","author":"Scott","year":"1995","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2007.01.011_bib6","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1007\/s004390100606","article-title":"Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations","volume":"109","author":"Beesley","year":"2001","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2007.01.011_bib7","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"},{"key":"10.1016\/j.ymgme.2007.01.011_bib8","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s004390050641","article-title":"Incidence of the mucopolysaccharidoses in Northern Ireland","volume":"101","author":"Nelson","year":"1997","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2007.01.011_bib9","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/BF00206770","article-title":"An update on the frequency of mucopolysaccharide syndromes in British Columbia","volume":"85","author":"Lowry","year":"1990","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2007.01.011_bib10","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in The Netherlands","volume":"105","author":"Poorthuis","year":"1999","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2007.01.011_bib11","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1182\/blood.V91.7.2601","article-title":"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","volume":"91","author":"Peters","year":"1998","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2007.01.011_bib12","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":"10.1016\/j.ymgme.2007.01.011_bib13","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":"10.1016\/j.ymgme.2007.01.011_bib14","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":"10.1016\/j.ymgme.2007.01.011_bib15","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.2007.01.011_bib16","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":"10.1016\/j.ymgme.2007.01.011_bib17","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 alpha-l-iduronidase (laronidase)","volume":"144","author":"Wraith","year":"2004","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2007.01.011_bib18","first-page":"A1661","article-title":"The impact of MPS I on the functional status of affected individuals","author":"Skrinar","year":"2003","journal-title":"Am. J. Human Genet."},{"key":"10.1016\/j.ymgme.2007.01.011_bib19","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.ymgme.2007.01.011_bib20","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 mucopolysaccharidosis I","volume":"6","author":"Wraith","year":"2005","journal-title":"Expert Opin. Pharmacother."},{"key":"10.1016\/j.ymgme.2007.01.011_bib21","doi-asserted-by":"crossref","DOI":"10.1111\/j.1651-2227.2005.tb02004.x","article-title":"Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I","author":"Vijay","year":"2005","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.ymgme.2007.01.011_bib22","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1017\/S0266462300000738","article-title":"Problems in the use of large data sets to assess effectiveness","volume":"6","author":"Temple","year":"1990","journal-title":"Int. J. Technol. Assess Health Care"},{"key":"10.1016\/j.ymgme.2007.01.011_bib23","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1001\/archinte.160.18.2835","article-title":"The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease","volume":"160","author":"Charrow","year":"2000","journal-title":"Arch. Intern. Med."},{"key":"10.1016\/j.ymgme.2007.01.011_bib24","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/S0002-9343(02)01150-6","article-title":"Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry","volume":"113","author":"Weinreb","year":"2002","journal-title":"Am. J. Med."},{"key":"10.1016\/j.ymgme.2007.01.011_bib25","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.jpeds.2003.10.067","article-title":"Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations","volume":"144","author":"Charrow","year":"2004","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2007.01.011_bib26","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1053\/j.seminhematol.2004.07.010","article-title":"Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients","volume":"41","author":"Weinreb","year":"2004","journal-title":"Semin. Hematol."},{"key":"10.1016\/j.ymgme.2007.01.011_bib27","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1053\/j.seminhematol.2004.07.009","article-title":"Therapeutic goals in the treatment of Gaucher disease","volume":"41","author":"Pastores","year":"2004","journal-title":"Semin. Hematol."},{"key":"10.1016\/j.ymgme.2007.01.011_bib28","doi-asserted-by":"crossref","first-page":"1174","DOI":"10.1210\/jcem.84.4.5634","article-title":"Derivation and validation of a mathematical model for predicting the response to exogenous recombinant human growth hormone (GH) in prepubertal children with idiopathic GH deficiency. KIGS International Board. Kabi Pharmacia International Growth Study","volume":"84","author":"Ranke","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"Suppl. 4","key":"10.1016\/j.ymgme.2007.01.011_bib29","first-page":"2","article-title":"Advances in growth hormone therapy: a new registry tool","volume":"62","author":"Pugeat","year":"2004","journal-title":"Horm. Res."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719207000340?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719207000340?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:18:00Z","timestamp":1761088680000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719207000340"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["S1096719207000340"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2007.01.011","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2007,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2007.01.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}