{"id":"https://openalex.org/W2068066009","doi":"https://doi.org/10.5662/wjm.v4.i3.163","title":"World health dilemmas: Orphan and rare diseases, orphan drugs and orphan patients","display_name":"World health dilemmas: Orphan and rare diseases, orphan drugs and orphan patients","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W2068066009","doi":"https://doi.org/10.5662/wjm.v4.i3.163","mag":"2068066009","pmid":"https://pubmed.ncbi.nlm.nih.gov/25332915","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4202455"},"language":"en","primary_location":{"id":"doi:10.5662/wjm.v4.i3.163","doi":"https://doi.org/10.5662/wjm.v4.i3.163","is_oa":true,"landing_page_url":"https://doi.org/10.5662/wjm.v4.i3.163","pdf_url":"https://www.wjgnet.com/2222-0682/full/v4/i3/163.htm","source":{"id":"https://openalex.org/S4210179924","display_name":"World Journal of Methodology","issn_l":"2222-0682","issn":["2222-0682"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","vabb-shw"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"World Journal of Methodology","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.wjgnet.com/2222-0682/full/v4/i3/163.htm","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5076734198","display_name":"Christina Kontoghiorghe","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Christina N Kontoghiorghe","raw_affiliation_strings":["Christina N Kontoghiorghe, Nicholas Andreou, Katerina Constantinou, George J Kontoghiorghes, Postgraduate Research Institute of Science, Technology, Environment and Medicine, Limassol 3021, Cyprus"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Christina N Kontoghiorghe, Nicholas Andreou, Katerina Constantinou, George J Kontoghiorghes, Postgraduate Research Institute of Science, Technology, Environment and Medicine, Limassol 3021, Cyprus","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5076734198"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.1779,"has_fulltext":true,"cited_by_count":58,"citation_normalized_percentile":{"value":0.74518201,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"4","issue":"3","first_page":"163","last_page":"163"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11792","display_name":"Pharmaceutical Economics and Policy","score":0.9961000084877014,"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"}},"topics":[{"id":"https://openalex.org/T11792","display_name":"Pharmaceutical Economics and Policy","score":0.9961000084877014,"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"}},{"id":"https://openalex.org/T10804","display_name":"Health Systems, Economic Evaluations, Quality of Life","score":0.0005000000237487257,"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"}},{"id":"https://openalex.org/T12816","display_name":"Global Public Health Policies and Epidemiology","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1407","display_name":"Organizational Behavior and Human Resource Management"},"field":{"id":"https://openalex.org/fields/14","display_name":"Business, Management and Accounting"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/orphan-drugs","display_name":"orphan drugs","score":0.8190000057220459},{"id":"https://openalex.org/keywords/rare-diseases","display_name":"rare diseases","score":0.9629999995231628},{"id":"https://openalex.org/keywords/global-health-ethics","display_name":"global health ethics","score":0.7059999704360962},{"id":"https://openalex.org/keywords/drug-pricing","display_name":"drug pricing","score":0.7799999713897705},{"id":"https://openalex.org/keywords/pharmaceutical-industry","display_name":"pharmaceutical industry","score":0.5849999785423279},{"id":"https://openalex.org/keywords/thalassemia","display_name":"thalassemia","score":0.8790000081062317},{"id":"https://openalex.org/keywords/drug-development-costs","display_name":"drug development costs","score":0.7739999890327454},{"id":"https://openalex.org/keywords/health-care-costs","display_name":"health care costs","score":0.6539999842643738},{"id":"https://openalex.org/keywords/developing-countries","display_name":"developing countries","score":0.6769999861717224},{"id":"https://openalex.org/keywords/global-health-policy","display_name":"global health policy","score":0.6259999871253967}],"concepts":[{"id":"https://openalex.org/C75480439","wikidata":"https://www.wikidata.org/wiki/Q1367466","display_name":"Orphan drug","level":2,"score":0.911180317401886},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5928675532341003},{"id":"https://openalex.org/C83864248","wikidata":"https://www.wikidata.org/wiki/Q177323","display_name":"Developing country","level":2,"score":0.5126459002494812},{"id":"https://openalex.org/C189326681","wikidata":"https://www.wikidata.org/wiki/Q10294","display_name":"Poverty","level":2,"score":0.48830461502075195},{"id":"https://openalex.org/C2777424817","wikidata":"https://www.wikidata.org/wiki/Q35456","display_name":"Essential medicines","level":3,"score":0.46071040630340576},{"id":"https://openalex.org/C46578552","wikidata":"https://www.wikidata.org/wiki/Q2725393","display_name":"Global health","level":3,"score":0.45418938994407654},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.4238091707229614},{"id":"https://openalex.org/C50522688","wikidata":"https://www.wikidata.org/wiki/Q189833","display_name":"Economic growth","level":1,"score":0.3769599497318268},{"id":"https://openalex.org/C138816342","wikidata":"https://www.wikidata.org/wiki/Q189603","display_name":"Public health","level":2,"score":0.350506067276001},{"id":"https://openalex.org/C162324750","wikidata":"https://www.wikidata.org/wiki/Q8134","display_name":"Economics","level":0,"score":0.10254141688346863},{"id":"https://openalex.org/C159110408","wikidata":"https://www.wikidata.org/wiki/Q121176","display_name":"Nursing","level":1,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.5662/wjm.v4.i3.163","doi":"https://doi.org/10.5662/wjm.v4.i3.163","is_oa":true,"landing_page_url":"https://doi.org/10.5662/wjm.v4.i3.163","pdf_url":"https://www.wjgnet.com/2222-0682/full/v4/i3/163.htm","source":{"id":"https://openalex.org/S4210179924","display_name":"World Journal of Methodology","issn_l":"2222-0682","issn":["2222-0682"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","vabb-shw"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"World Journal of Methodology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4202455","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4202455","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"World J Methodol","raw_type":"Text"},{"id":"pmid:25332915","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25332915","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":"World journal of methodology","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.5662/wjm.v4.i3.163","doi":"https://doi.org/10.5662/wjm.v4.i3.163","is_oa":true,"landing_page_url":"https://doi.org/10.5662/wjm.v4.i3.163","pdf_url":"https://www.wjgnet.com/2222-0682/full/v4/i3/163.htm","source":{"id":"https://openalex.org/S4210179924","display_name":"World Journal of Methodology","issn_l":"2222-0682","issn":["2222-0682"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","vabb-shw"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"World Journal of Methodology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2068066009.pdf","grobid_xml":"https://content.openalex.org/works/W2068066009.grobid-xml"},"referenced_works_count":158,"referenced_works":["https://openalex.org/W79844378","https://openalex.org/W156806157","https://openalex.org/W1488109698","https://openalex.org/W1542879042","https://openalex.org/W1567051584","https://openalex.org/W1575236942","https://openalex.org/W1576065899","https://openalex.org/W1576441355","https://openalex.org/W1581428086","https://openalex.org/W1591841112","https://openalex.org/W1668277427","https://openalex.org/W1964939841","https://openalex.org/W1965415929","https://openalex.org/W1970755611","https://openalex.org/W1972513910","https://openalex.org/W1972825203","https://openalex.org/W1973815056","https://openalex.org/W1974340954","https://openalex.org/W1974953723","https://openalex.org/W1977827387","https://openalex.org/W1983680508","https://openalex.org/W1984408401","https://openalex.org/W1986381199","https://openalex.org/W1988077473","https://openalex.org/W1989509557","https://openalex.org/W1991479634","https://openalex.org/W1991976348","https://openalex.org/W1992439969","https://openalex.org/W1992936172","https://openalex.org/W1995255139","https://openalex.org/W1995458368","https://openalex.org/W1998384196","https://openalex.org/W2001204305","https://openalex.org/W2003439510","https://openalex.org/W2003580194","https://openalex.org/W2003597857","https://openalex.org/W2004628001","https://openalex.org/W2005746290","https://openalex.org/W2005835393","https://openalex.org/W2007273763","https://openalex.org/W2009450326","https://openalex.org/W2011101238","https://openalex.org/W2013938992","https://openalex.org/W2015246582","https://openalex.org/W2015842541","https://openalex.org/W2016254654","https://openalex.org/W2019830137","https://openalex.org/W2020571310","https://openalex.org/W2020829586","https://openalex.org/W2022708198","https://openalex.org/W2023634994","https://openalex.org/W2024559544","https://openalex.org/W2025191892","https://openalex.org/W2027039165","https://openalex.org/W2028174473","https://openalex.org/W2029269773","https://openalex.org/W2031488844","https://openalex.org/W2031988543","https://openalex.org/W2034083677","https://openalex.org/W2040777684","https://openalex.org/W2042087520","https://openalex.org/W2044849847","https://openalex.org/W2049385753","https://openalex.org/W2053355927","https://openalex.org/W2053994396","https://openalex.org/W2055911002","https://openalex.org/W2058405151","https://openalex.org/W2058820674","https://openalex.org/W2062919513","https://openalex.org/W2063102842","https://openalex.org/W2064926813","https://openalex.org/W2065399808","https://openalex.org/W2065967941","https://openalex.org/W2068925304","https://openalex.org/W2069478526","https://openalex.org/W2071118860","https://openalex.org/W2074693666","https://openalex.org/W2075154791","https://openalex.org/W2076597625","https://openalex.org/W2077429231","https://openalex.org/W2078982459","https://openalex.org/W2079831248","https://openalex.org/W2079968246","https://openalex.org/W2080101498","https://openalex.org/W2080382699","https://openalex.org/W2080684826","https://openalex.org/W2081169927","https://openalex.org/W2081568231","https://openalex.org/W2081803583","https://openalex.org/W2083790580","https://openalex.org/W2084248446","https://openalex.org/W2087254432","https://openalex.org/W2087305113","https://openalex.org/W2087758229","https://openalex.org/W2087887501","https://openalex.org/W2089553492","https://openalex.org/W2093211879","https://openalex.org/W2096528587","https://openalex.org/W2099727192","https://openalex.org/W2099766948","https://openalex.org/W2101392496","https://openalex.org/W2106386201","https://openalex.org/W2108156076","https://openalex.org/W2108344016","https://openalex.org/W2108367321","https://openalex.org/W2108978878","https://openalex.org/W2109006940","https://openalex.org/W2115830594","https://openalex.org/W2117460722","https://openalex.org/W2117784691","https://openalex.org/W2118100094","https://openalex.org/W2119163321","https://openalex.org/W2119259412","https://openalex.org/W2119360186","https://openalex.org/W2121974193","https://openalex.org/W2122707576","https://openalex.org/W2124846732","https://openalex.org/W2128922975","https://openalex.org/W2130766471","https://openalex.org/W2130963599","https://openalex.org/W2133283268","https://openalex.org/W2137755173","https://openalex.org/W2139864557","https://openalex.org/W2140924749","https://openalex.org/W2142835186","https://openalex.org/W2145864623","https://openalex.org/W2146852370","https://openalex.org/W2148602524","https://openalex.org/W2151869002","https://openalex.org/W2153770666","https://openalex.org/W2156131212","https://openalex.org/W2156469375","https://openalex.org/W2159739693","https://openalex.org/W2160555510","https://openalex.org/W2160760548","https://openalex.org/W2161213462","https://openalex.org/W2162085688","https://openalex.org/W2163003062","https://openalex.org/W2164074033","https://openalex.org/W2166874051","https://openalex.org/W2167980905","https://openalex.org/W2396072317","https://openalex.org/W2401161374","https://openalex.org/W2409872943","https://openalex.org/W2412003750","https://openalex.org/W2414027695","https://openalex.org/W2418753837","https://openalex.org/W2435211891","https://openalex.org/W2485030599","https://openalex.org/W4233143817","https://openalex.org/W4236671384","https://openalex.org/W4241820278","https://openalex.org/W4252818207","https://openalex.org/W4285719527","https://openalex.org/W4292115665","https://openalex.org/W4292230194","https://openalex.org/W4298372264","https://openalex.org/W4360894011"],"related_works":["https://openalex.org/W4298262786","https://openalex.org/W1982904622","https://openalex.org/W2321602274","https://openalex.org/W1595541401","https://openalex.org/W7117416360","https://openalex.org/W2980074881","https://openalex.org/W4238815350","https://openalex.org/W3092321807","https://openalex.org/W2786415393","https://openalex.org/W3013517174"],"abstract_inverted_index":{"According":[0],"to":[1,259,275,293,310,313],"global":[2,100,220,321],"annual":[3,124,136,210],"estimates":[4],"hunger/malnutrition":[5],"is":[6,272],"the":[7,25,54,107,127,135,141,154,163,166,173,193,198,209,241,244,286,294,330],"major":[8,26,55,94],"cause":[9],"of":[10,13,21,28,50,57,66,73,109,126,208,230,296,332,335,342],"death":[11,29,58],"(36":[12],"62":[14],"million).":[15],"Cardiovascular":[16],"diseases":[17,339],"and":[18,47,106,111,153,216,227,251,307,317,337,340,347],"cancer":[19],"(5.44":[20],"13.43":[22],"million)":[23,52],"are":[24,53,93,120],"causes":[27,56],"in":[30,59,69,97,138,146,172,197,240,247,257,345],"developed":[31,189,348],"countries,":[32],"while":[33],"lower":[34],"respiratory":[35],"tract":[36],"infections,":[37],"human":[38],"immunodeficiency":[39,42],"virus":[40],"infection/acquired":[41],"syndrome,":[43],"diarrhoeal":[44],"disease,":[45],"malaria":[46],"tuberculosis":[48],"(10.88":[49],"27.12":[51],"developing":[60,174,285,346],"countries":[61,148,175],"with":[62,78,86,99,123,180,255],"more":[63,201],"than":[64,202],"70%":[65],"deaths":[67],"occurring":[68],"children.":[70],"The":[71,300],"majority":[72],"approximately":[74,115],"800":[75],"million":[76,281],"people":[77],"other":[79],"rare":[80,112,338],"diseases,":[81],"including":[82],"100000":[83],"children":[84],"born":[85],"thalassaemia":[87,291],"annually":[88],"receive":[89],"no":[90],"treatment.":[91],"There":[92],"ethical":[95],"dilemmas":[96],"dealing":[98],"health":[101,171,211,221,322],"issues":[102],"such":[103],"as":[104,186],"poverty":[105],"treatment":[108,331],"orphan":[110,121,336,343],"diseases.":[113],"Of":[114],"50000":[116],"drugs":[117,327],"about":[118],"10%":[119,207],"drugs,":[122],"sales":[125],"latter":[128],"approaching":[129],"100":[130,159],"billion":[131,151,160,178,204,232],"USD.":[132,161],"In":[133,162],"comparison,":[134],"revenue":[137],"2009":[139],"from":[140,188],"top":[142,155],"12":[143],"pharmaceutical":[144,238],"companies":[145,239],"Western":[147],"was":[149,176,249,283],"445":[150],"USD":[152,179,205,233,282],"drug,":[156],"atorvastatin,":[157],"reached":[158],"same":[164],"year,":[165],"total":[167],"government":[168],"expenditure":[169,268],"for":[170,269,290,302],"410":[177],"only":[181,279],"6%-7%":[182],"having":[183],"been":[184],"received":[185],"aid":[187],"countries.":[190,349],"Drugs":[191],"cost":[192],"National":[194],"Health":[195],"Service":[196],"United":[199,242],"Kingdom":[200],"20":[203],"or":[206],"budget.":[212],"Uncontrollable":[213],"drug":[214,270,287,303,315],"prices":[215],"marketing":[217,276],"policies":[218,323],"affect":[219],"budgets,":[222],"clinical":[223,298],"practice,":[224],"patient":[225,265],"safety":[226,316],"survival.":[228],"Fines":[229],"5.3":[231],"were":[234,253],"imposed":[235],"on":[236,325],"two":[237],"States,":[243],"regulatory":[245],"authority":[246],"France":[248],"replaced":[250],"clinicians":[252],"charged":[254],"bribery":[256],"order":[258],"overcome":[260],"recent":[261],"illegal":[262],"practises":[263],"affecting":[264],"care.":[266],"High":[267],"development":[271],"mainly":[273],"related":[274],"costs.":[277,319],"However,":[278],"2":[280],"spent":[284],"deferiprone":[288],"(L1)":[289],"up":[292],"stage":[295],"multicentre":[297],"trials.":[299],"criteria":[301],"development,":[304],"price":[305],"levels":[306],"use":[308],"needs":[309],"be":[311],"readdressed":[312],"improve":[314],"minimise":[318],"New":[320],"based":[324],"cheaper":[326],"can":[328],"help":[329],"many":[333],"categories":[334],"millions":[341],"patients":[344]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":8},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":5},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2016-06-24T00:00:00"}