| Evolution of Fabry disease in male patients: the Greek experience. | |
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MedLine Citation:
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PMID: 20040353 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fabry 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. |
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Authors:
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E Andrikos; C Iatrou; J N Boletis; A Diamandopoulos; C Katsinas; K Kalaitzidis; A Galinas; A Xaidara; M Pappas; K C Siamopoulos |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical nephrology Volume: 73 ISSN: 0301-0430 ISO Abbreviation: Clin. Nephrol. Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2009-12-30 Completed Date: 2010-03-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0364441 Medline TA: Clin Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 58-63 Citation Subset: IM |
Affiliation:
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General Hospital G. Hatzikosta, Ioannina, Greece. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Age Factors Age of Onset Disease Progression* Fabry Disease / diagnosis*, genetics, therapy Freedom Genetic Predisposition to Disease Genotype Health Surveys Humans Kidney Failure, Chronic / etiology, therapy Male Middle Aged Mutation Quality of Life Renal Dialysis alpha-Galactosidase / genetics* |
| Chemical | |
Reg. No./Substance:
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EC 3.2.1.22/alpha-Galactosidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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