Vis enkel innførsel

dc.contributor.authorTollånes, Mette Christophersenen_US
dc.contributor.authorAarsand, Aasne K.en_US
dc.contributor.authorVillanger, Jørild Haugenen_US
dc.contributor.authorStøle, Egilen_US
dc.contributor.authorDeybach, Jean-Charlesen_US
dc.contributor.authorMarsden, Joanneen_US
dc.contributor.authorTo-Figueras, Jordien_US
dc.contributor.authorSandberg, Sverreen_US
dc.contributor.authorEuropean Porphyria Networken_US
dc.date.accessioned2013-05-16T08:51:48Z
dc.date.available2013-05-16T08:51:48Z
dc.date.issued2012-12-10eng
dc.PublishedOrphanet Journal of Rare Diseases 2012, 7:93eng
dc.identifier.issn1750-1172
dc.identifier.urihttps://hdl.handle.net/1956/6614
dc.description.abstractBackground: The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres. The European Porphyria Initiative (EPI), a collaborative network of porphyria centres formed in 2001, evolved in 2007 into the European Porphyria Network (EPNET), where participating centres are required to adhere to agreed quality criteria. The aim of this study was to examine the state and distribution of porphyria diagnostic services in 2009 and to explore potential effects of increased international collaboration in the field of these rare diseases in the period 2006–2009. Methods: Data on laboratory, diagnostic and clinical activities and services reported to EPI/EPNET in yearly activity reports during 2006 through 2009 were compared between reporting centres, and possible time trends explored. Results: Thirty-five porphyria centres from 22 countries, five of which were non-European associate EPNET members, filed one or more activity reports to EPI/EPNET during the study period. Large variations between centres were observed in the analytical repertoire offered, numbers of analyses performed and type and number of staff engaged. The proportion of centres fulfilling the minimum criteria set by EPNET to be classified as a specialist porphyria centre increased from 80% to 94% during the study period. Conclusions: Porphyria services are unevenly distributed, and some areas are probably still lacking in specialized porphyria services altogether. However, improvements in the quality of diagnostic services provided by porphyria centres participating in EPI/EPNET were observed during 2006 through 2009.en_US
dc.language.isoengeng
dc.publisherBioMed Centraleng
dc.rightsAttribution CC BYeng
dc.rights.urihttp://creativecommons.org/licenses/by/2.0/eng
dc.subjectActivity dataeng
dc.subjectDiagnosticseng
dc.subjectMetabolic diseaseeng
dc.subjectPorphyriaeng
dc.titleEstablishing a network of specialist Porphyria centres - effects on diagnostic activities and servicesen_US
dc.typePeer reviewed
dc.typeJournal article
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright 2012 Tollånes et al.; licensee BioMed Central Ltd.
dc.identifier.doihttps://doi.org/10.1186/1750-1172-7-93
dc.identifier.cristin1009129
dc.source.journalOrphanet Journal of Rare Diseases
dc.source.407
dc.source.1493


Tilhørende fil(er)

Thumbnail

Denne innførselen finnes i følgende samling(er)

Vis enkel innførsel

Attribution CC BY
Med mindre annet er angitt, så er denne innførselen lisensiert som Attribution CC BY