{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T06:54:50Z","timestamp":1760424890694,"version":"3.35.0"},"reference-count":36,"publisher":"Akademiai Kiado Zrt.","issue":"25","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,6,1]]},"abstract":"<jats:p>A lizosz\u00f3m\u00e1k enzimeinek hi\u00e1nya vagy cs\u00f6kkent m\u0171k\u00f6d\u00e9se, illetve az enzimek \u00e9s szubsztr\u00e1tjaik transzportzavara okozza a lizoszom\u00e1lis t\u00e1rol\u00e1si rendelleness\u00e9geket. A le nem bontott makromolekul\u00e1k felhalmoz\u00f3dnak, k\u00e1ros\u00edtj\u00e1k a sejteket, ami k\u00fcl\u00f6nb\u00f6z\u0151 klinikai t\u00fcneteket okozhat. Ma megk\u00f6zel\u00edt\u0151leg 40 k\u00fcl\u00f6nb\u00f6z\u0151 t\u00e1rol\u00e1si betegs\u00e9get k\u00fcl\u00f6n\u00edt\u00fcnk el. Kezel\u00e9s\u00fckben az elm\u00falt \u00e9vtizedekig csak szupport\u00edv m\u00f3dszereket alkalmaztunk. Az elm\u00falt \u00e9vtizedek kutat\u00e1si eredm\u00e9nyei kisz\u00e9les\u00edtett\u00e9k a ter\u00e1pi\u00e1s lehet\u0151s\u00e9geket. A k\u00f6zlem\u00e9ny bemutatja a lizoszom\u00e1lis t\u00e1rol\u00e1si betegs\u00e9geket, \u00e1ttekinti a ter\u00e1pi\u00e1s lehet\u0151s\u00e9geket jelent\u0151 enzimp\u00f3tl\u00f3 kezel\u00e9st, a szubsztr\u00e1tcs\u00f6kkent\u0151 ter\u00e1pi\u00e1t, a csontvel\u0151-\u00e1t\u00fcltet\u00e9st, \u00e9s felveti a j\u00f6v\u0151 lehets\u00e9ges kezel\u00e9s\u00e9t, az \u0151ssejtbe\u00fcltet\u00e9st \u00e9s a g\u00e9nter\u00e1pi\u00e1t.<\/jats:p>","DOI":"10.1556\/oh.2008.28382","type":"journal-article","created":{"date-parts":[[2008,6,11]],"date-time":"2008-06-11T18:54:31Z","timestamp":1213210471000},"page":"1171-1179","source":"Crossref","is-referenced-by-count":1,"title":["Treatment prospects of lysosomal storage disorders"],"prefix":"10.1556","volume":"149","author":[{"given":"P\u00e9ter","family":"Reismann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsolt","family":"Tulassay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","first-page":"57","volume":"24","year":"1972","journal-title":"Magy. 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