{"@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/1390282680011414784.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.5692/clinicalneurol.50.844"}},{"identifier":{"@type":"COI","@value":"1:STN:280:DC%2BC3MfktVaktg%3D%3D"}},{"identifier":{"@type":"PMID","@value":"21921468"}},{"identifier":{"@type":"NAID","@value":"130004504652"}}],"dc:title":[{"@language":"en","@value":"Therapeutic approaches for patients with adult-onset type II citrullinemia (CTLN2): effectiveness of treatment with low-carbohydrate diet and sodium pyruvate"},{"@language":"ja","@value":"シンポジウム０２‐５　アカデミア発の創薬・治療研究　成人型シトルリン血症の治療‐低炭水化物食と経口ピルビン酸投与の有効性"}],"dc:language":"ja","description":[{"type":"abstract","notation":[{"@language":"en","@value":"Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease characterized by highly elevated plasma levels of citrulline and ammonia due to the urea cycle dysfunction associated with citrin deficiency. Patients with CTLN2 show various neurological symptoms with hyperammonemia closely resembling those of hepatic encephalopathy. Since 1990, 26 CTLN2 patients (17 males and 9 females) have been admitted and treated at Shinshu University Hospital. Twelve of the 26 patients received living related partial liver transplantation (LRLT). After LRLT, neurological symptoms soon disappeared, and all patients returned to their previous social lives. Among the 14 patients that did not undergo LRLT, 6 died of intractable encephalopathy or the development of hepatic cancer, but 8 patients have had relatively good clinical courses (follow-up range 0.5-8 years) with oral intake of L-arginine and low-carbohydrate and relatively protein-rich diet. Six patients have been also given sodium pyruvate and the frequency of attacks of encephalopathy markedly decreased in 5 of 6 patients. Our observations indicated that liver transplantation is a very promising type of therapy but that other therapeutic approaches, including low-carbohydrate diet and pyruvate, are being established.<br>"}],"abstractLicenseFlag":"disallow"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1420001326212727680","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"70372513"},{"@type":"NRID","@value":"1000070372513"},{"@type":"NRID","@value":"9000001488771"},{"@type":"NRID","@value":"9000412637331"},{"@type":"NRID","@value":"9000001476585"},{"@type":"NRID","@value":"9000413473725"},{"@type":"NRID","@value":"9000411811732"},{"@type":"NRID","@value":"9000351078783"},{"@type":"NRID","@value":"9000022065069"},{"@type":"NRID","@value":"9000001488829"},{"@type":"NRID","@value":"9000021888792"},{"@type":"NRID","@value":"9000021432692"},{"@type":"NRID","@value":"9000379610229"},{"@type":"NRID","@value":"9000001476797"},{"@type":"NRID","@value":"9000261675994"},{"@type":"NRID","@value":"9000412604346"},{"@type":"NRID","@value":"9000257859516"},{"@type":"NRID","@value":"9000020737093"},{"@type":"NRID","@value":"9000242155161"},{"@type":"NRID","@value":"9000021925488"},{"@type":"NRID","@value":"9000021330096"},{"@type":"NRID","@value":"9000411515084"},{"@type":"NRID","@value":"9000415323665"},{"@type":"NRID","@value":"9000402771823"},{"@type":"NRID","@value":"9000021889627"},{"@type":"NRID","@value":"9000412320118"},{"@type":"NRID","@value":"9000412601804"},{"@type":"NRID","@value":"9000412604114"},{"@type":"NRID","@value":"9000000562281"},{"@type":"NRID","@value":"9000240524982"},{"@type":"NRID","@value":"9000020284922"},{"@type":"NRID","@value":"9000021405931"},{"@type":"NRID","@value":"9000409987637"},{"@type":"NRID","@value":"9000259296279"},{"@type":"NRID","@value":"9000021490239"},{"@type":"NRID","@value":"9000411514321"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0116212"}],"foaf:name":[{"@language":"en","@value":"Yazaki Masahide"},{"@language":"ja","@value":"矢崎 正英"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine"},{"@language":"ja","@value":"信州大脳神経内科，リウマチ・膠原病内科"}]},{"@id":"https://cir.nii.ac.jp/crid/1410853646344632321","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000258058665"}],"foaf:name":[{"@language":"en","@value":"Ikeda Shu-ichi"},{"@language":"ja","@value":"池田 修一"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"信州大脳神経内科，リウマチ・膠原病内科"},{"@language":"en","@value":"Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine"}]},{"@id":"https://cir.nii.ac.jp/crid/1410853646344632320","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000258058666"}],"foaf:name":[{"@language":"en","@value":"Kobayashi Keiko"},{"@language":"ja","@value":"小林 圭子"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medicine and Dental Sciences"},{"@language":"ja","@value":"鹿児島大大学院分子病態生化学"}]},{"@id":"https://cir.nii.ac.jp/crid/1030003658328348931","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"10056070"},{"@type":"NRID","@value":"1000010056070"},{"@type":"CINII_AUTHOR_ID","@value":"DA06567470"},{"@type":"URI","@value":"https://ci.nii.ac.jp/author/DA06567470#entity"},{"@type":"URI","@value":"https://viaf.org/viaf/NII%7CDA06567470"},{"@type":"NRID","@value":"9000019243014"},{"@type":"NRID","@value":"9000254480268"},{"@type":"NRID","@value":"9000001182535"},{"@type":"NRID","@value":"9000311052033"},{"@type":"NRID","@value":"9000253196534"},{"@type":"NRID","@value":"9000253203841"},{"@type":"NRID","@value":"9000283679887"},{"@type":"NRID","@value":"9000107306758"},{"@type":"NRID","@value":"9000021694254"},{"@type":"NRID","@value":"9000021849411"},{"@type":"NRID","@value":"9000017813567"},{"@type":"NRID","@value":"9000022065077"},{"@type":"NRID","@value":"9000411804307"},{"@type":"NRID","@value":"9000253194910"},{"@type":"NRID","@value":"9000009516210"},{"@type":"NRID","@value":"9000004459426"},{"@type":"NRID","@value":"9000391621654"},{"@type":"NRID","@value":"9000253177152"},{"@type":"NRID","@value":"9000256361450"},{"@type":"NRID","@value":"9000011049321"},{"@type":"NRID","@value":"9000006092892"},{"@type":"NRID","@value":"9000006091909"},{"@type":"NRID","@value":"9000021404483"},{"@type":"NRID","@value":"9000391625902"},{"@type":"NRID","@value":"9000391613682"},{"@type":"NRID","@value":"9000253200623"},{"@type":"NRID","@value":"9000256186406"},{"@type":"NRID","@value":"9000001587756"},{"@type":"NRID","@value":"9000001539147"},{"@type":"NRID","@value":"9000001400413"},{"@type":"NRID","@value":"9000391637350"},{"@type":"NRID","@value":"9000391638046"},{"@type":"NRID","@value":"9000391638130"},{"@type":"NRID","@value":"9000391635194"},{"@type":"NRID","@value":"9000021849549"},{"@type":"NRID","@value":"9000255751776"},{"@type":"NRID","@value":"9000017870525"},{"@type":"NRID","@value":"9000391644195"},{"@type":"NRID","@value":"9000253566210"},{"@type":"NRID","@value":"9000253164117"},{"@type":"NRID","@value":"9000253175657"},{"@type":"NRID","@value":"9000391637454"},{"@type":"NRID","@value":"9000018339042"},{"@type":"NRID","@value":"9000391638134"},{"@type":"NRID","@value":"9000252818341"},{"@type":"NRID","@value":"9000255751772"},{"@type":"NRID","@value":"9000018484439"},{"@type":"NRID","@value":"9000391646945"},{"@type":"NRID","@value":"9000391656658"},{"@type":"NRID","@value":"9000321623532"},{"@type":"NRID","@value":"9000347123801"},{"@type":"NRID","@value":"9000253199507"},{"@type":"NRID","@value":"9000253202531"},{"@type":"NRID","@value":"9000253199254"},{"@type":"NRID","@value":"9000253198574"},{"@type":"NRID","@value":"9000253192382"},{"@type":"NRID","@value":"9000001902379"},{"@type":"NRID","@value":"9000020284989"},{"@type":"NRID","@value":"9000391636227"},{"@type":"NRID","@value":"9000253197125"},{"@type":"NRID","@value":"9000258058667"},{"@type":"NRID","@value":"9000256185595"},{"@type":"NRID","@value":"9000259834697"},{"@type":"NRID","@value":"9000021480430"},{"@type":"NRID","@value":"9000021391064"},{"@type":"NRID","@value":"9000020962591"},{"@type":"NRID","@value":"9000021633122"},{"@type":"NRID","@value":"9000253194914"},{"@type":"NRID","@value":"9000253042048"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0017520"}],"foaf:name":[{"@language":"en","@value":"Saheki Takeyori"},{"@language":"ja","@value":"佐伯 武頼"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Institute for Health Sciences, Tokushima Bunri University"},{"@language":"ja","@value":"徳島文理大健康科学研究所"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"0009918X"},{"@type":"EISSN","@value":"18820654"}],"prism:publicationName":[{"@language":"en","@value":"Rinsho Shinkeigaku"},{"@language":"ja","@value":"臨床神経学"},{"@language":"en","@value":"Rinsho Shinkeigaku"},{"@language":"ja","@value":"臨床神経学"}],"dc:publisher":[{"@language":"en","@value":"Societas Neurologica Japonica"},{"@language":"ja","@value":"日本神経学会"}],"prism:publicationDate":"2010","prism:volume":"50","prism:number":"11","prism:startingPage":"844","prism:endingPage":"847"},"reviewed":"false","dcterms:accessRights":"http://purl.org/coar/access_right/c_abf2","availableAt":"2010","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=adult-onset%20type%20II%20citrullinemia","dc:title":"adult-onset type II citrullinemia"},{"@id":"https://cir.nii.ac.jp/all?q=low%20carbohydrate%20diet","dc:title":"low carbohydrate diet"},{"@id":"https://cir.nii.ac.jp/all?q=Sodium%20pyruvate","dc:title":"Sodium pyruvate"},{"@id":"https://cir.nii.ac.jp/all?q=argininosuccinate%20synthetase","dc:title":"argininosuccinate synthetase"},{"@id":"https://cir.nii.ac.jp/all?q=citrin","dc:title":"citrin"},{"@id":"https://cir.nii.ac.jp/all?q=%E6%88%90%E4%BA%BA%E5%9E%8B%E3%82%B7%E3%83%88%E3%83%AB%E3%83%AA%E3%83%B3%E8%A1%80%E7%97%87","dc:title":"成人型シトルリン血症"},{"@id":"https://cir.nii.ac.jp/all?q=%E4%BD%8E%E7%82%AD%E6%B0%B4%E5%8C%96%E7%89%A9%E5%88%B6%E9%99%90%E9%A3%9F","dc:title":"低炭水化物制限食"},{"@id":"https://cir.nii.ac.jp/all?q=%E3%83%94%E3%83%AB%E3%83%93%E3%83%B3%E9%85%B8%E3%83%8A%E3%83%88%E3%83%AA%E3%82%A6%E3%83%A0","dc:title":"ピルビン酸ナトリウム"},{"@id":"https://cir.nii.ac.jp/all?q=%E3%82%A2%E3%83%AB%E3%82%AE%E3%83%8B%E3%83%8E%E3%82%B3%E3%83%8F%E3%82%AF%E9%85%B8%E5%90%88%E6%88%90%E9%85%B5%E7%B4%A0","dc:title":"アルギニノコハク酸合成酵素"},{"@id":"https://cir.nii.ac.jp/all?q=%E3%82%B7%E3%83%88%E3%83%AA%E3%83%B3","dc:title":"シトリン"}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360004235757634816","@type":"Article","resourceType":"学術雑誌論文(journal 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Encephalopathy after Intravenous Glycerol Therapy in Patients with Adult-onset Type 2 Citrullinemia(CTLN2)"},{"@value":"Risk of Worsened Encephalopathy after Intravenous Glycerol Therapy in Patients with Adult-onset Type II Citrullinemia (CTLN2)"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282679847185280","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Conventional Diet Therapy for Hyperammonemia is Risky in the Treatment of Hepatic Encephalopathy Associated with Citrin Deficiency"}]},{"@id":"https://cir.nii.ac.jp/crid/1390580947974818816","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment"}]},{"@id":"https://cir.nii.ac.jp/crid/1571980076071872256","@type":"Article","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Patient with adult-onset type II citrullinemia beginning 2 years after operation for duodenal malignant somatostatinoma : Indication for liver 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