{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1390282679853349504.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.2169/internalmedicine.54.3279"}},{"identifier":{"@type":"PMID","@value":"26179544"}},{"identifier":{"@type":"NAID","@value":"130005088241"}},{"identifier":{"@type":"URI","@value":"https://search.jamas.or.jp/link/ui/2016310080"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@language":"en","@value":"Pathological Renal Findings of Chronic Renal Failure in a Patient with the E66Q Mutation in the α-galactosidase A Gene"},{"@value":"Pathological Renal Findings of Chronic Renal Failure in a Patient with the E66Q Mutation in the &alpha;-galactosidase A Gene"}],"dc:language":"en","description":[{"type":"abstract","notation":[{"@language":"en","@value":"A 66-year-old Japanese man was diagnosed with interstitial nephritis on a renal biopsy at 45 years of age and began to receive hemodialysis at 65 years of age. He was suspected of having Fabry disease as a result of a screening study for Fabry disease performed in hemodialysis patients. He had an E66Q mutation in the α-galactosidase A gene. We conducted an electron microscopic examination of a renal biopsy specimen obtained when the patient was diagnosed with chronic renal failure at 45 years of age in order to elucidate the pathogenicity of the E66Q mutation. Interestingly, an electron microscopic examination of the renal biopsy specimen indicated no characteristic findings of Fabry disease.<br>"}],"abstractLicenseFlag":"disallow"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1410282679853349507","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000298898097"}],"foaf:name":[{"@language":"en","@value":"Fujita Takayuki"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Division of Nephrology, Hypertension and Endocrinology, Department of Medicine, Nihon University School of Medicine, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1410001204679832963","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000256094415"},{"@type":"NRID","@value":"9000019057884"},{"@type":"NRID","@value":"9000383076478"},{"@type":"NRID","@value":"9000003887745"},{"@type":"NRID","@value":"9000298898096"},{"@type":"NRID","@value":"9000292185113"},{"@type":"NRID","@value":"9000001758341"},{"@type":"KAKEN_RESEARCHERS","@value":"80409002"},{"@type":"NRID","@value":"1000080409002"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0152407"}],"foaf:name":[{"@language":"en","@value":"Satomura Atsushi"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1420001326215928704","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"00339334"},{"@type":"NRID","@value":"1000000339334"},{"@type":"NRID","@value":"9000002890723"},{"@type":"NRID","@value":"9000013975932"},{"@type":"NRID","@value":"9000257801449"},{"@type":"NRID","@value":"9000016673509"},{"@type":"NRID","@value":"9000238236710"},{"@type":"NRID","@value":"9000408594032"},{"@type":"NRID","@value":"9000408904945"},{"@type":"NRID","@value":"9000252753489"},{"@type":"NRID","@value":"9000240104769"},{"@type":"NRID","@value":"9000257801057"},{"@type":"NRID","@value":"9000010161784"},{"@type":"NRID","@value":"9000020757551"},{"@type":"NRID","@value":"9000258237065"},{"@type":"NRID","@value":"9000383076480"},{"@type":"NRID","@value":"9000399749881"},{"@type":"NRID","@value":"9000259319493"},{"@type":"NRID","@value":"9000375905788"},{"@type":"NRID","@value":"9000415088059"},{"@type":"NRID","@value":"9000257777677"},{"@type":"NRID","@value":"9000256093940"},{"@type":"NRID","@value":"9000415183892"},{"@type":"NRID","@value":"9000257777189"},{"@type":"NRID","@value":"9000364595196"},{"@type":"NRID","@value":"9000252876999"},{"@type":"NRID","@value":"9000412320882"},{"@type":"NRID","@value":"9000412553715"},{"@type":"NRID","@value":"9000298898098"},{"@type":"NRID","@value":"9000252824412"},{"@type":"NRID","@value":"9000412159111"},{"@type":"NRID","@value":"9000017333319"},{"@type":"NRID","@value":"9000252929311"},{"@type":"NRID","@value":"9000257802643"},{"@type":"NRID","@value":"9000257776279"},{"@type":"NRID","@value":"9000257808502"},{"@type":"NRID","@value":"9000364595183"},{"@type":"NRID","@value":"9000021839292"},{"@type":"NRID","@value":"9000257777117"},{"@type":"NRID","@value":"9000256092360"},{"@type":"NRID","@value":"9000396104907"},{"@type":"NRID","@value":"9000258236475"},{"@type":"NRID","@value":"9000021851752"},{"@type":"NRID","@value":"9000391685173"},{"@type":"NRID","@value":"9000256518533"},{"@type":"NRID","@value":"9000257776016"},{"@type":"NRID","@value":"9000413585034"},{"@type":"NRID","@value":"9000314064724"},{"@type":"NRID","@value":"9000329013124"},{"@type":"NRID","@value":"9000369335121"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0077415"}],"foaf:name":[{"@language":"en","@value":"Nakayama Tomohiro"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1410282679853349505","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000298898099"}],"foaf:name":[{"@language":"en","@value":"Kusano Hiroyuki"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Kasukabe-Kisen Hospital, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1410282679853349508","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000298898100"}],"foaf:name":[{"@language":"en","@value":"Takayama Eiichi"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Kasukabe-Kisen Hospital, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1410282679853349509","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000298898101"}],"foaf:name":[{"@language":"en","@value":"Hamada Hiroaki"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Kasukabe-Kisen Hospital, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1410282679853349510","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000298898102"}],"foaf:name":[{"@language":"en","@value":"Maruyama Toshiharu"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Kasukabe-Kisen Hospital, Japan"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"09182918"},{"@type":"EISSN","@value":"13497235"}],"prism:publicationName":[{"@language":"en","@value":"Internal Medicine"},{"@language":"en","@value":"Intern. Med."}],"dc:publisher":[{"@language":"en","@value":"The Japanese Society of Internal Medicine"},{"@language":"ja","@value":"一般社団法人 日本内科学会"}],"prism:publicationDate":"2015","prism:volume":"54","prism:number":"14","prism:startingPage":"1819","prism:endingPage":"1824"},"reviewed":"false","dcterms:accessRights":"http://purl.org/coar/access_right/c_abf2","url":[{"@id":"https://search.jamas.or.jp/link/ui/2016310080"}],"availableAt":"2015","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=Fabry%20disease","dc:title":"Fabry disease"},{"@id":"https://cir.nii.ac.jp/all?q=E66Q%20mutation","dc:title":"E66Q mutation"},{"@id":"https://cir.nii.ac.jp/all?q=hemodialysis","dc:title":"hemodialysis"},{"@id":"https://cir.nii.ac.jp/all?q=renal%20biopsy","dc:title":"renal biopsy"},{"@id":"https://cir.nii.ac.jp/all?q=enzyme%20replacement%20therapy","dc:title":"enzyme replacement 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Nephropathy"}]},{"@id":"https://cir.nii.ac.jp/crid/1363670319059561472","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A New Phenotype of Fabry Disease with Intermediate Severity between the Classical Form and the Cardiac Variant"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951794409499264","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Fabry disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951794523620096","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951794545989120","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A 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of cerebral small‐vessel occlusion in elderly Japanese males’"}]},{"@id":"https://cir.nii.ac.jp/crid/1390001204476175360","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Descriptive Epidemiology of Fabry Disease Among Beneficiaries of the Specified Disease Treatment Research Program in Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/2050870367072104576","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Significance of screening for Fabry disease among male dialysis 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