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dc.contributor.authorMarques-da-Silva, Dorindaen_UK
dc.contributor.authorFrancisco, Ritaen_UK
dc.contributor.authordos Reis Ferreira, Vanessaen_UK
dc.contributor.authorForbat, Lizen_UK
dc.contributor.authorLagoa, Ricardoen_UK
dc.contributor.authorVideira, Paula Aen_UK
dc.contributor.authorWitters, Peteren_UK
dc.contributor.authorJaeken, Jaaken_UK
dc.contributor.authorCassiman, Daviden_UK
dc.contributor.editorMorava, Evaen_UK
dc.contributor.editorBaumgartner, Matthiasen_UK
dc.contributor.editorPatterson, Marcen_UK
dc.contributor.editorRahman, Shamimaen_UK
dc.contributor.editorZschocke, Johannesen_UK
dc.contributor.editorPeters, Verenaen_UK
dc.description.abstractCongenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono- to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is often reported in CDG patients. The main objectives of this work were (1) to better understand liver involvement in CDG patients through a liver electronic questionnaire targeting CDG families (LeQCDG) and (2) to compare responses from LeQCDG participants with literature review regarding the prevalence of liver disease and the occurrence of liver symptoms in CDG patients. The network of patient advocacy groups, families and professionals (CDG & Allies – PPAIN) developed the LeQCDG by adapting validated published questionnaires. The LeQCDG was approved by an ethics committee, and the recruitment of patients and caregivers proceeded through social media platforms. Participants were asked to report past or present liver-related symptoms (e.g. hepatomegaly, liver fibrosis and cirrhosis) and laboratory results (e.g. biochemical and/or radiological). From 11 December 2016 to 22 January 2017, 155 questionnaires were completed. Liver disease was present in 29.9% of CDG patients. Main symptoms reported included hepatomegaly, increased levels of serum transaminases, fibrosis, steatosis and cirrhosis. The data obtained in this online survey confirm findings from a recent literature review of 25 years of published evidence (r = 0.927, P = 0.02). Our questionnaire collected large amounts of meaningful, clinical and patient-oriented data in a short period of time without geographic limitations. Internet-based approaches are especially relevant in the context of ultra-rare diseases such as CDG.en_UK
dc.publisherSpringer Berlin Heidelbergen_UK
dc.relationMarques-da-Silva D, Francisco R, dos Reis Ferreira V, Forbat L, Lagoa R, Videira PA, Witters P, Jaeken J & Cassiman D (2019) An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study. In: Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J & Peters V (eds.) JIMD Reports. 1st ed. JIMD Reports, 44. Berlin: Springer Berlin Heidelberg, pp. 55-64.
dc.relation.ispartofseriesJIMD Reports, 44en_UK
dc.rightsThe publisher does not allow this work to be made publicly available in this Repository. Please use the Request a Copy feature at the foot of the Repository record to request a copy directly from the author. You can only request a copy if you wish to use this work for your own research or private study.en_UK
dc.subjectCongenital disorder(s) of glycosylation (CDG)en_UK
dc.subjectLiterature reviewen_UK
dc.subjectRare diseasesen_UK
dc.titleAn Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Studyen_UK
dc.typePart of book or chapter of booken_UK
dc.rights.embargoreason[JIMD_liver questionniare.pdf] The publisher does not allow this work to be made publicly available in this Repository therefore there is an embargo on the full text of the work.en_UK
dc.citation.jtitleJournal of Inherited Metabolic Diseaseen_UK
dc.type.statusVoR - Version of Recorden_UK
dc.contributor.funderAardvark TMCen_UK
dc.citation.btitleJIMD Reportsen_UK
dc.contributor.affiliationNew University of Lisbonen_UK
dc.contributor.affiliationNew University of Lisbonen_UK
dc.contributor.affiliationPortuguese Association for CDGen_UK
dc.contributor.affiliationFaculty of Social Sciencesen_UK
dc.contributor.affiliationPolytechnic of Leiriaen_UK
dc.contributor.affiliationNew University of Lisbonen_UK
dc.contributor.affiliationKU Leuvenen_UK
dc.contributor.affiliationKU Leuvenen_UK
dc.contributor.affiliationKU Leuvenen_UK
dc.contributor.affiliationTulane Universityen_UK
dc.contributor.affiliationUniversity Hospital Zurichen_UK
dc.contributor.affiliationMayo Clinicen_UK
dc.contributor.affiliationUCL Institute of Child Health Care and G O S Hen_UK
dc.contributor.affiliationThe Medical University of Innsbrucken_UK
dc.contributor.affiliationHeidelberg University Hospitalen_UK
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