{"id":"https://openalex.org/W2372504069","doi":null,"title":"replacement therapies can cost hundreds of thousands of pounds per life-year gained.","display_name":"replacement therapies can cost hundreds of thousands of pounds per life-year gained.","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W2372504069","mag":"2372504069"},"language":"en","primary_location":{"id":"mag:2372504069","doi":null,"is_oa":false,"landing_page_url":"https://www.lancet.com/pdfs/journals/lancet/PIIS0140-6736(15)61244-2.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5004511915","display_name":"Bridget Wilcken","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Bridget Wilcken","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5004511915"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9721999764442444,"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":0.9721999764442444,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.01080000028014183,"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"}},{"id":"https://openalex.org/T10804","display_name":"Health Systems, Economic Evaluations, Quality of Life","score":0.006000000052154064,"subfield":{"id":"https://openalex.org/subfields/2002","display_name":"Economics and Econometrics"},"field":{"id":"https://openalex.org/fields/20","display_name":"Economics, Econometrics and Finance"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.5260000228881836},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.8740000128746033},{"id":"https://openalex.org/keywords/krabbe-disease","display_name":"Krabbe disease","score":0.7390000224113464},{"id":"https://openalex.org/keywords/hematopoietic-stem-cell-transplantation","display_name":"hematopoietic stem cell transplantation","score":0.8870000243186951},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.6679999828338623},{"id":"https://openalex.org/keywords/treatment-costs","display_name":"treatment costs","score":0.7260000109672546},{"id":"https://openalex.org/keywords/long-term-treatment-outcomes","display_name":"long-term treatment outcomes","score":0.7459999918937683},{"id":"https://openalex.org/keywords/pompe-disease","display_name":"Pompe disease","score":0.6430000066757202},{"id":"https://openalex.org/keywords/enzymopathies","display_name":"enzymopathies","score":0.5709999799728394}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.649129331111908},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6401876211166382},{"id":"https://openalex.org/C3018065600","wikidata":"https://www.wikidata.org/wiki/Q10751894","display_name":"Life saving","level":2,"score":0.5420956611633301},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5221303105354309},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.48174619674682617},{"id":"https://openalex.org/C2911091166","wikidata":"https://www.wikidata.org/wiki/Q106419912","display_name":"Transplantation","level":2,"score":0.43968063592910767},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.3418319821357727},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.20753228664398193},{"id":"https://openalex.org/C545542383","wikidata":"https://www.wikidata.org/wiki/Q2751242","display_name":"Medical emergency","level":1,"score":0.1814272701740265},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.10616463422775269}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2372504069","doi":null,"is_oa":false,"landing_page_url":"https://www.lancet.com/pdfs/journals/lancet/PIIS0140-6736(15)61244-2.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8560000061988831}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W1540250989","https://openalex.org/W1947988280","https://openalex.org/W1992197367","https://openalex.org/W2036186078","https://openalex.org/W2037309013","https://openalex.org/W2043188267","https://openalex.org/W2092545017","https://openalex.org/W2099150972","https://openalex.org/W2115943082","https://openalex.org/W2135011388","https://openalex.org/W2169411017"],"related_works":["https://openalex.org/W3166578639","https://openalex.org/W1788182075","https://openalex.org/W2170467794","https://openalex.org/W2942619274","https://openalex.org/W4249385457","https://openalex.org/W2476829982","https://openalex.org/W7099256733","https://openalex.org/W2048941620","https://openalex.org/W4390126354","https://openalex.org/W2885349922"],"abstract_inverted_index":{"6Very":[0],"large":[1],"expenditure":[2],"must":[3,119],"be":[4,12,37,120],"considered":[5],"from":[6,97],"an":[7],"ethical":[8],"viewpoint\u2014could":[9],"the":[10,44,71,87,90,129],"money":[11],"better":[13],"spent":[14],"to":[15,36,93,103],"support":[16],"health":[17],"outcomes":[18,46,174],"in":[19,70,86,100,110],"some":[20,57],"other":[21,164],"arena?":[22],"The":[23,54],"costs":[24],"of":[25,77],"treatment":[26,130,157],"for":[27,56,158],"MoCD":[28],"are":[29,34,50,58],"not":[30,59,145,152],"yet":[31,52,153],"clear,":[32],"but":[33,85,172],"likely":[35],"very":[38,122],"high.":[39],"For":[40],"many":[41,159],"rare":[42,165],"disorders":[43,162],"long-term":[45,173],"with":[47],"new":[48],"treatments":[49],"as":[51],"unknown.":[53],"signs":[55],"good.":[60],"Krabbe\u2019s":[61,114],"disease":[62,138,196],"is":[63,131,151,179,184,197],"a":[64,104],"severe":[65],"neurometabolic":[66],"disorder":[67,91],"usually":[68],"fatal":[69,108],"fi":[72],"rst":[73],"year":[74],"or":[75],"two":[76],"life.":[78,111],"Haemopoietic":[79],"stem-cell":[80],"transplantation":[81],"certainly":[82],"prolongs":[83],"life,":[84],"long":[88],"term":[89],"seems":[92],"remain":[94,175],"progressive,":[95],"converted":[96],"one":[98,198],"lethal":[99],"early":[101],"infancy":[102],"degenerative":[105],"disorder,":[106],"probably":[107],"later":[109],"7":[112],"In":[113],"disease,":[115,150],"like":[116],"MoCD,":[117,128],"therapy":[118],"instituted":[121],"soon":[123],"after":[124],"birth.":[125],"But,":[126],"unlike":[127],"risky":[132],"and":[133,142,163,170,177],"which":[134,143,190],"patients":[135,191],"have":[136,146],"infantile":[137],"needing":[139],"urgent":[140],"treatment,":[141],"do":[144],"clinically":[147],"signifi":[148],"cant":[149],"always":[154],"clear.":[155],"Certainly":[156],"lysosomal":[160],"storage":[161],"enzymopathies":[166],"has":[167],"been":[168],"encouraging":[169],"life-changing,":[171],"uncertain":[176],"there":[178],"also":[180],"uncertainty,":[181],"if":[182],"diagnosis":[183],"made":[185],"by":[186],"newborn":[187],"screening,":[188],"about":[189],"need":[192],"immediate":[193],"treatment.":[194],"Pompe\u2019s":[195],"example.":[199],"8":[200]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}