{"?xml":{"@version":"1.0"},"edm:RDF":{"@xmlns:dc":"http://purl.org/dc/elements/1.1/","@xmlns:edm":"http://www.europeana.eu/schemas/edm/","@xmlns:wgs84_pos":"http://www.w3.org/2003/01/geo/wgs84_pos","@xmlns:foaf":"http://xmlns.com/foaf/0.1/","@xmlns:rdaGr2":"http://rdvocab.info/ElementsGr2","@xmlns:oai":"http://www.openarchives.org/OAI/2.0/","@xmlns:owl":"http://www.w3.org/2002/07/owl#","@xmlns:rdf":"http://www.w3.org/1999/02/22-rdf-syntax-ns#","@xmlns:ore":"http://www.openarchives.org/ore/terms/","@xmlns:skos":"http://www.w3.org/2004/02/skos/core#","@xmlns:dcterms":"http://purl.org/dc/terms/","edm:WebResource":[{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-4QP2QT90/6ae42235-43a1-4669-a8ca-d1c7e4fa97aa/PDF","dcterms:extent":"351 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-4QP2QT90/6b65cc94-db79-4953-8ce6-b47e21c4a329/TEXT","dcterms:extent":"0 KB"}],"edm:TimeSpan":{"@rdf:about":"2010-2025","edm:begin":{"@xml:lang":"en","#text":"2010"},"edm:end":{"@xml:lang":"en","#text":"2025"}},"edm:ProvidedCHO":{"@rdf:about":"URN:NBN:SI:doc-4QP2QT90","dcterms:isPartOf":[{"@rdf:resource":"https://www.dlib.si/details/URN:NBN:SI:spr-UQS2GZJE"},{"@xml:lang":"sl","#text":"Slovenska pediatrija"}],"dcterms:issued":"2022","dc:creator":["Berden, Urška","Kitanovski, Lidija","Urlep Žužej, Darja"],"dc:contributor":"Urlep Žužej, Darja","dc:format":[{"@xml:lang":"sl","#text":"letnik:29"},{"@xml:lang":"sl","#text":"številka:3"},{"@xml:lang":"sl","#text":"str. 149-153"}],"dc:identifier":["DOI:10.38031/slovpediatr-2022-3-05","ISSN:1318-4423","COBISSID:160892675","URN:URN:NBN:SI:doc-4QP2QT90"],"dc:language":"sl","dc:publisher":[{"@xml:lang":"sl","#text":"Združenje pediatrov Slovenije"},{"@xml:lang":"sl","#text":"Združenje specialistov šolske in visokošolske medicine Slovenije"}],"dc:subject":[{"@xml:lang":"sl","#text":"Crohnova bolezen"},{"@xml:lang":"sl","#text":"granulomatozno vnetje črevesa"},{"@xml:lang":"sl","#text":"Hermansky-Pudlakov sindrom"},{"@xml:lang":"sl","#text":"infliksimab"}],"dcterms:temporal":{"@rdf:resource":"2010-2025"},"dc:title":{"@xml:lang":"sl","#text":"Hermansky-Pudlakov sindrom in granulomatozno vnetje črevesa – pregledni prispevek in prikaz primera| Hermansky-Pudlak syndrome and granulomatous bowel inflammation – review article and case report|"},"dc:description":{"@xml:lang":"sl","#text":"Hermansky-Pudlakov sindrom (HPS) je zelo redka genetsko in fenotipsko heterogena večsistemska bolezen, ki nastane zaradi motnje v delovanju lizosomu podobnih znotrajceličnih organelov. Poznamo enajst genetskih različic HPS. Za vse različice sta značilna okulokutani albinizem in hemoragična diateza zaradi disfunkcije trombocitov. Značilno je tudi kopičenje ceroida lipofuscina v retikuloendotelnem sistemu različnih organov. Pri določenih različicah HPS, najpogosteje pri HPS-1 in HPS-4, se lahko razvije granulomatozno vnetje prebavne cevi, ki je podobno Crohnovi bolezni. V prispevku predstavljamo edini primer bolnice v Sloveniji z diagnosticiranim Hermansky-Pudlakovim sindromom 1 (HPS-1) ter pridruženim granulomatoznim vnetjem tankega in debelega črevesa, ki ima klinične, endoskopske in patohistološke značilnosti Crohnove bolezni"},"edm:type":"TEXT","dc:type":[{"@xml:lang":"sl","#text":"znanstveno časopisje"},{"@xml:lang":"en","#text":"journals"},{"@rdf:resource":"http://www.wikidata.org/entity/Q361785"}]},"ore:Aggregation":{"@rdf:about":"http://www.dlib.si/?URN=URN:NBN:SI:doc-4QP2QT90","edm:aggregatedCHO":{"@rdf:resource":"URN:NBN:SI:doc-4QP2QT90"},"edm:isShownBy":{"@rdf:resource":"http://www.dlib.si/stream/URN:NBN:SI:doc-4QP2QT90/6ae42235-43a1-4669-a8ca-d1c7e4fa97aa/PDF"},"edm:rights":{"@rdf:resource":"http://creativecommons.org/licenses/by-nc/4.0/"},"edm:provider":"Slovenian National E-content Aggregator","edm:intermediateProvider":{"@xml:lang":"en","#text":"National and University Library of Slovenia"},"edm:dataProvider":{"@xml:lang":"sl","#text":"Društvo za pomoč otrokom s presnovnimi motnjami"},"edm:object":{"@rdf:resource":"http://www.dlib.si/streamdb/URN:NBN:SI:doc-4QP2QT90/maxi/edm"},"edm:isShownAt":{"@rdf:resource":"http://www.dlib.si/details/URN:NBN:SI:doc-4QP2QT90"}}}}