{"id":"https://openalex.org/W2011387232","doi":"https://doi.org/10.1186/1750-1172-3-24","title":"The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK","display_name":"The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK","publication_year":2008,"publication_date":"2008-09-16","ids":{"openalex":"https://openalex.org/W2011387232","doi":"https://doi.org/10.1186/1750-1172-3-24","mag":"2011387232","pmid":"https://pubmed.ncbi.nlm.nih.gov/18796143","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2553763"},"language":"en","primary_location":{"id":"doi:10.1186/1750-1172-3-24","doi":"https://doi.org/10.1186/1750-1172-3-24","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1750-1172-3-24","pdf_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/1750-1172-3-24","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/1750-1172-3-24","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5047963230","display_name":"David Moore","orcid":"https://orcid.org/0000-0002-4163-4080","observed_orcids":["https://orcid.org/0000-0002-4163-4080"]},"institutions":[{"id":"https://openalex.org/I79619799","display_name":"University of Birmingham","ror":"https://ror.org/03angcq70","country_code":"GB","type":"education","lineage":["https://openalex.org/I79619799"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"David Moore","raw_affiliation_strings":["Department of Public Health and Epidemiology, University of Birmingham, Birmingham, UK. d.j.moore@bham.ac.uk","Department of Public Health and Epidemiology, University of Birmingham, Birmingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health and Epidemiology, University of Birmingham, Birmingham, UK. d.j.moore@bham.ac.uk","institution_ids":["https://openalex.org/I79619799"]},{"raw_affiliation_string":"Department of Public Health and Epidemiology, University of Birmingham, Birmingham, UK","institution_ids":["https://openalex.org/I79619799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090784666","display_name":"Martin J Connock","orcid":"https://orcid.org/0000-0002-5353-9988","observed_orcids":["https://orcid.org/0000-0002-5353-9988"]},"institutions":[{"id":"https://openalex.org/I79619799","display_name":"University of Birmingham","ror":"https://ror.org/03angcq70","country_code":"GB","type":"education","lineage":["https://openalex.org/I79619799"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Martin J Connock","raw_affiliation_strings":["Department of Public Health and Epidemiology, University of Birmingham, Birmingham, B15 2TT, UK","Department of Public Health and Epidemiology, University of Birmingham, Birmingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health and Epidemiology, University of Birmingham, Birmingham, B15 2TT, UK","institution_ids":["https://openalex.org/I79619799"]},{"raw_affiliation_string":"Department of Public Health and Epidemiology, University of Birmingham, Birmingham, UK","institution_ids":["https://openalex.org/I79619799"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029001570","display_name":"Ed Wraith","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210160221","display_name":"Royal Manchester Children's Hospital","ror":"https://ror.org/052vjje65","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852","https://openalex.org/I4210160221"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ed Wraith","raw_affiliation_strings":["Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Pendlebury, Manchester, M27 4HA, UK","Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Pendlebury, Manchester, M27 4HA, UK","institution_ids":["https://openalex.org/I4210160221"]},{"raw_affiliation_string":"Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, UK","institution_ids":["https://openalex.org/I4210160221"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108271632","display_name":"Christine Lavery","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Christine Lavery","raw_affiliation_strings":["The Society for Mucopolysaccharidosis diseases (UK), Registered Charity No. 287034, MPS House, Repton Place, White Lion Road, Amersham, Buckinghamshire, HP7 9LP, UK","The Society for Mucopolysaccharidosis diseases (UK), Amersham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Society for Mucopolysaccharidosis diseases (UK), Registered Charity No. 287034, MPS House, Repton Place, White Lion Road, Amersham, Buckinghamshire, HP7 9LP, UK","institution_ids":[]},{"raw_affiliation_string":"The Society for Mucopolysaccharidosis diseases (UK), Amersham, UK","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5047963230"],"corresponding_institution_ids":["https://openalex.org/I79619799"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":4.2488,"has_fulltext":true,"cited_by_count":153,"citation_normalized_percentile":{"value":0.94057329,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":96,"max":100},"biblio":{"volume":"3","issue":"1","first_page":"24","last_page":"24"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/mucopolysaccharidosis-type-i","display_name":"mucopolysaccharidosis type I","score":0.9800000190734863},{"id":"https://openalex.org/keywords/hurler-syndrome","display_name":"Hurler syndrome","score":0.968999981880188},{"id":"https://openalex.org/keywords/hurler-scheie-syndrome","display_name":"Hurler-Scheie syndrome","score":0.9959999918937683},{"id":"https://openalex.org/keywords/scheie-syndrome","display_name":"Scheie syndrome","score":0.996999979019165},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.8420000076293945},{"id":"https://openalex.org/keywords/birth-prevalence","display_name":"birth prevalence","score":0.8309999704360962},{"id":"https://openalex.org/keywords/patient-survival","display_name":"patient survival","score":0.843999981880188},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.7110000252723694},{"id":"https://openalex.org/keywords/bone-marrow-transplantation","display_name":"bone marrow transplantation","score":0.9369999766349792}],"concepts":[{"id":"https://openalex.org/C2910509766","wikidata":"https://www.wikidata.org/wiki/Q55165792","display_name":"Mucopolysaccharidosis type I","level":4,"score":0.8318061828613281},{"id":"https://openalex.org/C2777636572","wikidata":"https://www.wikidata.org/wiki/Q25379699","display_name":"Hurler syndrome","level":3,"score":0.7888126969337463},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7471299767494202},{"id":"https://openalex.org/C10515644","wikidata":"https://www.wikidata.org/wiki/Q543310","display_name":"Survival analysis","level":2,"score":0.5298808813095093},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5236577391624451},{"id":"https://openalex.org/C2779416428","wikidata":"https://www.wikidata.org/wiki/Q1479681","display_name":"Mucopolysaccharidosis","level":2,"score":0.5220348834991455},{"id":"https://openalex.org/C2781030883","wikidata":"https://www.wikidata.org/wiki/Q142764","display_name":"Coccidioides","level":2,"score":0.49466702342033386},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.4625937342643738},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.444121390581131},{"id":"https://openalex.org/C66339696","wikidata":"https://www.wikidata.org/wiki/Q6089397","display_name":"Log-rank test","level":3,"score":0.4306109845638275},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3850221335887909},{"id":"https://openalex.org/C2779969927","wikidata":"https://www.wikidata.org/wiki/Q916766","display_name":"Enzyme replacement therapy","level":3,"score":0.26997074484825134},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.23096227645874023}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003710","descriptor_name":"Demography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004739","descriptor_name":"England","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008059","descriptor_name":"Mucopolysaccharidosis I","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":true},{"descriptor_ui":"D008059","descriptor_name":"Mucopolysaccharidosis I","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D008059","descriptor_name":"Mucopolysaccharidosis I","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012042","descriptor_name":"Registries","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012955","descriptor_name":"Societies, Medical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014852","descriptor_name":"Wales","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053208","descriptor_name":"Kaplan-Meier Estimate","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":7,"locations":[{"id":"doi:10.1186/1750-1172-3-24","doi":"https://doi.org/10.1186/1750-1172-3-24","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1750-1172-3-24","pdf_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/1750-1172-3-24","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2553763","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2553763","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet J Rare Dis","raw_type":"Text"},{"id":"pmid:18796143","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18796143","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet journal of rare diseases","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.278.2880","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.278.2880","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/e5/97/Orphanet_J_Rare_Dis_2008_Sep_16_3_24.tar.gz","raw_type":"text"},{"id":"pmh:oai:doaj.org/article:a0005c9131364a31994a880bc4594f65","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/a0005c9131364a31994a880bc4594f65","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Orphanet Journal of Rare Diseases, Vol 3, Iss 1, p 24 (2008)","raw_type":"article"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/d817cde7-8250-4a9c-a947-863201e9e707","doi":null,"is_oa":true,"landing_page_url":"https://research.birmingham.ac.uk/en/publications/d817cde7-8250-4a9c-a947-863201e9e707","pdf_url":null,"source":{"id":"https://openalex.org/S4306402634","display_name":"University of Birmingham Research Portal (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Moore, D, Connock, M, Wraith, E & Lavery, C 2008, 'The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK', Orphanet Journal of Rare Diseases, vol. 3, no. 1, pp. 24-. https://doi.org/10.1186/1750-1172-3-24","raw_type":"article"},{"id":"pmh:oai:pure.atira.dk:publications/d817cde7-8250-4a9c-a947-863201e9e707","doi":null,"is_oa":true,"landing_page_url":"https://research.birmingham.ac.uk/portal/en/publications/the-prevalence-of-and-survival-in-mucopolysaccharidosis-i-hurler-hurlerscheie-and-scheie-syndromes-in-the-uk(d817cde7-8250-4a9c-a947-863201e9e707).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306402634","display_name":"University of Birmingham Research Portal (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Moore , D , Connock , M , Wraith , E & Lavery , C 2008 , ' The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK ' , Orphanet Journal of Rare Diseases , vol. 3 , no. 1 , pp. 24- . https://doi.org/10.1186/1750-1172-3-24","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/1750-1172-3-24","doi":"https://doi.org/10.1186/1750-1172-3-24","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1750-1172-3-24","pdf_url":"https://ojrd.biomedcentral.com/counter/pdf/10.1186/1750-1172-3-24","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9922999739646912,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2011387232.pdf","grobid_xml":"https://content.openalex.org/works/W2011387232.grobid-xml"},"referenced_works_count":19,"referenced_works":["https://openalex.org/W1483242733","https://openalex.org/W2007414751","https://openalex.org/W2023560805","https://openalex.org/W2038713290","https://openalex.org/W2048941620","https://openalex.org/W2058795042","https://openalex.org/W2059934840","https://openalex.org/W2064374974","https://openalex.org/W2085884984","https://openalex.org/W2092086072","https://openalex.org/W2093722439","https://openalex.org/W2094355363","https://openalex.org/W2101256763","https://openalex.org/W2106256529","https://openalex.org/W2113330592","https://openalex.org/W2400348755","https://openalex.org/W3027621882","https://openalex.org/W3209992856","https://openalex.org/W4376568678"],"related_works":["https://openalex.org/W4241813663","https://openalex.org/W2058795042","https://openalex.org/W2108835452","https://openalex.org/W4244561955","https://openalex.org/W7150965049","https://openalex.org/W2059934840","https://openalex.org/W2214571398","https://openalex.org/W2132081940","https://openalex.org/W6939548237","https://openalex.org/W2239903669"],"abstract_inverted_index":{"BACKGROUND:":[0],"Mucopolysaccharidosis":[1],"type":[2],"I":[3,81,113,147,333,346],"(MPS":[4],"I)":[5],"is":[6,41,70,338,348],"a":[7,84,93,187],"rare":[8],"lysosomal":[9,67],"storage":[10,68],"disease":[11,52,82],"subdivided":[12],"into":[13],"three":[14],"phenotypes":[15,151,315],"of":[16,27,50,66,74,95,111,131,153,174,182,190,197,206,234,239,264,289,294,312,331],"increasing":[17],"severity:":[18],"Scheie,":[19],"Hurler-Scheie":[20],"and":[21,29,47,76,90,116,127,227,236,255,273,282,336,340],"Hurler.":[22],"To":[23],"gauge":[24],"the":[25,32,45,51,63,101,119,170,177,286,313,341],"effectiveness":[26],"treatments":[28,184],"to":[30,35,43,56,122,161,211,231,276,301,308,322],"determine":[31,309],"load":[33],"likely":[34],"fall":[36],"on":[37,62],"health-care":[38],"systems,":[39],"it":[40],"necessary":[42],"understand":[44],"prevalence":[46,75,110,330],"natural":[48,64],"progression":[49],"especially":[53],"with":[54,176,241,246],"regard":[55],"life-expectancy.":[57],"In":[58],"general":[59],"such":[60],"data":[61,87],"history":[65],"diseases":[69],"sparse.":[71],"METHODS:":[72],"Analysis":[73],"patient":[77],"survival":[78,144,173,189,205,218,265,311,343],"in":[79,114,134,334],"MPS":[80,112,146,332,345],"using":[83],"unique":[85],"longitudinal":[86],"set":[88],"initiated":[89],"maintained":[91],"over":[92,118],"period":[94,120],"more":[96],"than":[97],"20":[98],"years":[99,280,284,298],"by":[100,158,169,223],"Society":[102],"for":[103,145,195,244,250,324,344],"Mucopolysaccharide":[104],"Diseases":[105],"(UK).":[106],"RESULTS:":[107],"The":[108,142,214,328],"birth":[109,329],"England":[115,335],"Wales":[117,337],"1981":[121],"2003":[123],"was":[124,156,167,202,209,220,271,274,296,306,319],"1.07/100,000":[125,339],"births":[126],"within":[128],"+/-":[129],"5%":[130],"estimates":[132],"reported":[133],"several":[135],"studies":[136],"that":[137,323],"examined":[138],"reasonably":[139],"large":[140],"populations.":[141],"median":[143,188,204,310,342],"patients":[148,175,208,240,252,291,347],"(including":[149],"all":[150],"irrespective":[152,181],"various":[154],"treatments)":[155],"found":[157],"Kaplan-Meier":[159],"analysis":[160],"be":[162,229],"11.6":[163,349],"years.":[164,213,350],"This":[165],"result":[166],"driven":[168],"relatively":[171],"poor":[172],"Hurler":[178,207,251,290,325],"phenotype":[179],"who,":[180],"any":[183],"received,":[185],"had":[186],"8.7":[191],"years;":[192],"when":[193],"censoring":[194],"receipt":[196,293],"bone":[198],"marrow":[199],"transplant":[200],"(BMT)":[201],"implemented":[203],"diminished":[210],"6.8":[212],"difference":[215],"between":[216],"these":[217],"curves":[219,249],"statistically":[221],"significant":[222],"log":[224],"rank":[225],"test":[226],"can":[228],"attributed":[230],"beneficial":[232],"effects":[233],"BMT":[235,259,270,295],"or":[237],"selection":[238],"superior":[242,321],"prognosis":[243],"intervention":[245],"BMT.":[247],"Survival":[248],"who":[253],"received":[254],"did":[256],"not":[257],"receive":[258],"were":[260],"very":[261],"different.":[262],"Probability":[263],"at":[266,292],"2":[267],"year":[268],"after":[269,278],"~68%":[272],"similar":[275],"this":[277,318],"5":[279],"(66%)":[281],"ten":[283],"(64%);":[285],"mean":[287],"age":[288],"1.33":[297],"(range":[299],"0.1":[300],"3":[302],"years).":[303],"Follow":[304],"up":[305],"insufficient":[307],"milder":[314],"however,":[316],"unsurprisingly,":[317],"clearly":[320],"patients.":[326],"CONCLUSION:":[327]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":10},{"year":2020,"cited_by_count":19},{"year":2019,"cited_by_count":14},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":13},{"year":2016,"cited_by_count":10},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":12},{"year":2013,"cited_by_count":11},{"year":2012,"cited_by_count":10}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}