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dc.contributor.authorOzelsancak, Ruya
dc.contributor.authorUyar, Bulent
dc.date.accessioned2019-08-08T10:13:09Z
dc.date.available2019-08-08T10:13:09Z
dc.date.issued2016
dc.identifier.issn1941-5923
dc.identifier.urihttp://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC4913751&blobtype=pdf
dc.identifier.urihttp://hdl.handle.net/11727/3840
dc.description.abstractPatient: Male, 39 Final Diagnosis: Fabry disease Symptoms: - Acropareshesia . fatique Medication: - Clinical Procedure: Gene analysis Specialty: Metabolic Disorders and Diabetics Objective: Rare disease Background: Fabry disease is an X-linked disorder. Due to deficiency of the enzyme a-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. Case Report: We report a case of Fabry disease with a p. R301X (c. 901 C> T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband's mother, sister, and daughter had the same mutation with different phenotypes. Levels of a-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated. Conclusions: Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease.en_US
dc.language.isoengen_US
dc.relation.isversionof10.12659/AJCR.897024en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCodon, Nonsenseen_US
dc.subjectFabry Diseaseen_US
dc.subjectHeart Diseasesen_US
dc.subjectKidney Failureen_US
dc.subjectChronicen_US
dc.titlep.R301X Mutation and Variable Phenotypic Appearance of Fabry Diseaseen_US
dc.typearticleen_US
dc.relation.journalAMERICAN JOURNAL OF CASE REPORTSen_US
dc.identifier.volume17en_US
dc.identifier.startpage315en_US
dc.identifier.endpage319en_US
dc.identifier.wos000377017900001en_US
dc.identifier.scopus2-s2.0-84985001735en_US
dc.contributor.pubmedID27156739en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US


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