{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:38:16Z","timestamp":1791250696883,"version":"4.1.0"},"reference-count":32,"publisher":"Akademiai Kiado Zrt.","issue":"9","content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2014,3,2]]},"abstract":"A szerz\u0151k a feln\u0151ttkorban kiteljesed\u0151 ritka k\u00f3rk\u00e9pekre h\u00edvj\u00e1k fel a figyelmet.\n Ezek r\u00e9szben nem genetikai eredet\u0171ek, hanem egy adott r\u00e9gi\u00f3ban, popul\u00e1ci\u00f3ban\n vagy abszol\u00fat \u00e9rtelemben is ritka fert\u0151z\u00e9ses, anyagcsere-, autoimmun, daganatos,\n k\u00f6rnyezeti \u00e1rtalmak okozta betegs\u00e9gek. Azonban a genetikai k\u00f3rok\u00fa k\u00f3rk\u00e9pek\n jelent\u0151s r\u00e9sze is \u2013 bele\u00e9rtve a t\u00e1rol\u00e1si betegs\u00e9geket (p\u00e9ld\u00e1ul Tay\u2013Sachs-k\u00f3r \u00e9s\n Gaucher-k\u00f3r feln\u0151ttkori form\u00e1ja), az enzimhi\u00e1nyokat (p\u00e9ld\u00e1ul az ureaciklus\n betegs\u00e9gein bel\u00fcl az ornitin-transzkarbamil\u00e1z deficiencia), a ritka\n thrombophili\u00e1kat (p\u00e9ld\u00e1ul homozig\u00f3ta V. faktor Leiden-mut\u00e1ci\u00f3,\n antitrombindeficientia), egyes ritka, monog\u00e9nes \u00f6r\u00f6kl\u00e9s\u0171 betegs\u00e9geket, mint a\n Huntington-chorea \u2013 csak k\u00e9sei gyermekkorban vagy feln\u0151ttkorban\n manifeszt\u00e1l\u00f3dnak, \u00e9rintve az orvosl\u00e1s valamennyi ter\u00fclet\u00e9t. Az \u00e1ltal\u00e1nosan\n elfogadott becsl\u00e9s szerint a mintegy 6\u20138 ezer ritka betegs\u00e9gnek legal\u00e1bb a fele\n teh\u00e1t a feln\u0151ttell\u00e1t\u00f3k (belgy\u00f3gy\u00e1szat, neurol\u00f3gia stb.), illetve \u201ekorsemleges\u201d\n szakter\u00fcletek (p\u00e9ld\u00e1ul szem\u00e9szet, f\u00fcl-orr-g\u00e9g\u00e9szet, b\u0151rgy\u00f3gy\u00e1szat stb.)\n feladata. Orv. Hetil., 2014, 155<\/jats:italic>(9), 334\u2013340.<\/jats:p>","DOI":"10.1556\/oh.2014.29857","type":"journal-article","created":{"date-parts":[[2014,2,25]],"date-time":"2014-02-25T02:09:46Z","timestamp":1393294186000},"page":"334-340","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":3,"title":["Feln\u0151ttkorban kiteljesed\u0151 ritka k\u00f3rk\u00e9pek"],"prefix":"10.1556","volume":"155","author":[{"given":"Gy\u00f6rgy","family":"Pfliegler","sequence":"first","affiliation":[{"name":"Belgy\u00f3gy\u00e1szati Int\u00e9zet, Ritka Betegs\u00e9gek Tansz\u00e9k, Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erzs\u00e9bet","family":"Kov\u00e1cs","sequence":"additional","affiliation":[{"name":"Belgy\u00f3gy\u00e1szati Int\u00e9zet, Ritka Betegs\u00e9gek Tansz\u00e9k, Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gy\u00f6rgy","family":"Kov\u00e1cs","sequence":"additional","affiliation":[{"name":"Belgy\u00f3gy\u00e1szati Int\u00e9zet, Ritka Betegs\u00e9gek Tansz\u00e9k, Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kriszti\u00e1n","family":"Urb\u00e1n","sequence":"additional","affiliation":[{"name":"Belgy\u00f3gy\u00e1szati Int\u00e9zet, Ritka Betegs\u00e9gek Tansz\u00e9k, Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9ria","family":"Nagy","sequence":"additional","affiliation":[{"name":"Szem\u00e9szeti Klinika, Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Debrecen Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bogl\u00e1rka","family":"Br\u00fag\u00f3s","sequence":"additional","affiliation":[{"name":"Belgy\u00f3gy\u00e1szati Int\u00e9zet, Ritka Betegs\u00e9gek Tansz\u00e9k, Debreceni Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar Debrecen, Nagyerdei krt. 98., 4032 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","reference":[{"key":"1","unstructured":"S\u00e1ndor, J., M\u00e9tneki, J., Szunyogh, M.:<\/i> Rare diaseases. 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