{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T12:38:10Z","timestamp":1789821490472,"version":"4.0.1"},"reference-count":10,"publisher":"Akademiai Kiado Zrt.","issue":"30","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:p> The long diagnostic delay is a characteristic problem of rare disease patients. Aims: Diagnostic delay was studied in 14 countries by EurordisCare2 involving patient organizations. Methods: 252 Hungarian patients (cystic fibrosis; Duchenne muscular dystrophy; tuberous sclerosis, retinitis pigmentosa, and Williams\u2019 syndrome) completed the questionnaires. Results: The median delay was longer in Hungary than in Europe (cystic fibrosis: 227 vs. 45 days; Duchenne muscular dystrophy: 467 vs. 360 days; tuberous sclerosis: 155 vs. 120 days). Patients\u2019 experience was similar in Hungary and in Europe. The proportion of misdiagnosis was 30.8% in Hungary (Europe: 41%), 34.8% of patients got diagnosis outside of living place region (EU: 26%) and 19.9% of them found the personal expenses too high (EU: 10%). Delivery of the diagnosis was unnecessary according to 27.4% of Hungarian patients (EU: 35%). Conclusions: The qualitative survey demonstrated that the problems with the diagnosis of rare diseases are widespread, the identified areas require interventions, and it confirmed the importance of centralized care. Orv. Hetil., 2012, 153, 1185\u20131190. <\/jats:p>","DOI":"10.1556\/oh.2012.29418","type":"journal-article","created":{"date-parts":[[2012,7,26]],"date-time":"2012-07-26T15:52:04Z","timestamp":1343317924000},"page":"1185-1190","source":"Crossref","is-referenced-by-count":9,"title":["Diagnostic delay of rare diseases in Europe and in Hungary"],"prefix":"10.1556","volume":"153","author":[{"given":"Anett","family":"F\u00f6ldv\u00e1ri","sequence":"first","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum, N\u00e9peg\u00e9szs\u00e9g\u00fcgyi Kar Megel\u0151z\u0151 Orvostani Int\u00e9zet, Biostatisztikai \u00e9s Epidemiol\u00f3giai Tansz\u00e9k Debrecen Kassai \u00fat 26. 4012"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ildik\u00f3","family":"Szy","sequence":"additional","affiliation":[{"name":"Nemzeti Hum\u00e1n Er\u0151forr\u00e1s Miniszt\u00e9rium Eg\u00e9szs\u00e9gpolitikai F\u0151oszt\u00e1ly Budapest"},{"name":"Orsz\u00e1gos Eg\u00e9szs\u00e9gfejleszt\u00e9si Int\u00e9zet Ritka Betegs\u00e9gek K\u00f6zpontja Budapest"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e1nos","family":"S\u00e1ndor","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum, N\u00e9peg\u00e9szs\u00e9g\u00fcgyi Kar Megel\u0151z\u0151 Orvostani Int\u00e9zet, Biostatisztikai \u00e9s Epidemiol\u00f3giai Tansz\u00e9k Debrecen Kassai \u00fat 26. 4012"},{"name":"Orsz\u00e1gos Eg\u00e9szs\u00e9gfejleszt\u00e9si Int\u00e9zet Ritka Betegs\u00e9gek K\u00f6zpontja Budapest"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e1bor","family":"Pog\u00e1ny","sequence":"additional","affiliation":[{"name":"Ritka \u00e9s Velesz\u00fcletett Rendelleness\u00e9ggel \u00c9l\u0151k Orsz\u00e1gos Sz\u00f6vets\u00e9ge Budapest"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gy\u00f6rgy","family":"Kosztol\u00e1nyi","sequence":"additional","affiliation":[{"name":"Orsz\u00e1gos Eg\u00e9szs\u00e9gfejleszt\u00e9si Int\u00e9zet Ritka Betegs\u00e9gek K\u00f6zpontja Budapest"},{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Orvosi Genetikai Int\u00e9zet P\u00e9cs"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1136\/bmj.331.7523.1016","volume":"331","year":"2005","journal-title":"BMJ"},{"key":"atypb2","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1016\/S0140-6736(08)60872-7","volume":"371","year":"2008","journal-title":"Lancet"},{"key":"atypb6","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.healthpol.2012.02.003","volume":"105","year":"2012","journal-title":"Health Policy"},{"key":"atypb7","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-3-16","volume":"3","year":"2008","journal-title":"Orphanet J. Rare Dis."},{"key":"atypb8","volume-title":"The Voice of 12 000 Patients. Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe","year":"2009"},{"key":"atypb9","first-page":"2361","volume":"149","year":"2009","journal-title":"Am. J. Med. Genet."},{"key":"atypb11","first-page":"121","volume":"1","year":"2000","journal-title":"Paediatr. Respir. Rev."},{"key":"atypb12","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1185\/03007990802081543","volume":"24","year":"2008","journal-title":"Curr. Med. Res. Opin."},{"key":"atypb13","volume-title":"Rare diseases epidemiology","year":"2010"},{"key":"atypb14","first-page":"S5","volume":"9","year":"2010","journal-title":"J. Cyst. Fibros."}],"container-title":["Orvosi Hetilap"],"original-title":[],"language":"hu","link":[{"URL":"https:\/\/www.akademiai.com\/doi\/pdf\/10.1556\/OH.2012.29418","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T09:52:09Z","timestamp":1590141129000},"score":1,"resource":{"primary":{"URL":"https:\/\/akjournals.com\/doi\/10.1556\/oh.2012.29418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7]]},"references-count":10,"journal-issue":{"issue":"30","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1556\/OH.2012.29418"],"URL":"https:\/\/doi.org\/10.1556\/oh.2012.29418","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7]]}}}