Evolution of Fabry disease in male patients: the Greek experience

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dc.contributor.authorAndrikos, E.en
dc.contributor.authorIatrou, C.en
dc.contributor.authorBoletis, J. N.en
dc.contributor.authorDiamandopoulos, A.en
dc.contributor.authorKatsinas, C.en
dc.contributor.authorKalaitzidis, K.en
dc.contributor.authorGalinas, A.en
dc.contributor.authorXaidara, A.en
dc.contributor.authorPappas, M.en
dc.contributor.authorSiamopoulos, K. C.en
dc.date.accessioned2015-11-24T19:17:15Z
dc.date.available2015-11-24T19:17:15Z
dc.identifier.issn0301-0430-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/21755
dc.rightsDefault Licence-
dc.subjectAdolescenten
dc.subjectAdulten
dc.subjectAge Factorsen
dc.subjectAge of Onseten
dc.subject*Disease Progressionen
dc.subjectFabry Disease/*diagnosis/genetics/therapyen
dc.subjectFreedomen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenotypeen
dc.subjectHealth Surveysen
dc.subjectHumansen
dc.subjectKidney Failure, Chronic/etiology/therapyen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subjectMutationen
dc.subjectQuality of Lifeen
dc.subjectRenal Dialysisen
dc.subjectalpha-Galactosidase/*geneticsen
dc.titleEvolution of Fabry disease in male patients: the Greek experienceen
heal.abstractFabry disease is a progressive metabolic disorder with a clinical course characterized by different phases and a variety of disease manifestations. The first symptoms generally appear in childhood or early adolescence and are followed by late life-threatening complications involving vascular, renal, cardiac, and cerebral systems. We report the clinical and biochemical characteristics of 16 male patients from 10 unrelated families who represent almost the entire cohort of known Fabry patients in Greece. Despite the presence of early symptoms in almost every patient (mean age at onset of symptoms 15.6 years), the diagnosis was delayed for a mean of about 18 years (mean age of diagnosis 36 years). Patients are currently monitored and the majority (15 out 16 patients) treated with Enzyme Replacement Therapy.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/20040353-
heal.journalNameClin Nephrolen
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2010-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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