{"created":"2022-02-01T06:36:37.611259+00:00","id":2011168,"links":{},"metadata":{"_buckets":{"deposit":"a6c4e611-65e6-464b-8a82-aafed4f87bb0"},"_deposit":{"id":"2011168","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"2011168"},"status":"published"},"_oai":{"id":"oai:u-ryukyu.repo.nii.ac.jp:02011168","sets":["1642838163960:1642838338003","1642838403551:1642838407795"]},"author_link":[],"item_1617186331708":{"attribute_name":"Title","attribute_value_mlt":[{"subitem_1551255647225":"A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data","subitem_1551255648112":"en"}]},"item_1617186419668":{"attribute_name":"Creator","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Chinen, Yasutsugu","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Yanagi, Kumiko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nakamura, Sadao","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nakayama, Noriko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kamiya, Motoko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nakayashiro, Mami","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kaname, Tadashi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Naritomi, Kenji","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nakanishi, Koichi","creatorNameLang":"en"}]}]},"item_1617186476635":{"attribute_name":"Access Rights","attribute_value_mlt":[{"subitem_1522299639480":"open access","subitem_1600958577026":"http://purl.org/coar/access_right/c_abf2"}]},"item_1617186499011":{"attribute_name":"Rights","attribute_value_mlt":[{"subitem_1522650717957":"en","subitem_1522651041219":"Creative Commons Attribution 4.0"},{"subitem_1522650717957":"en","subitem_1522650727486":"https://creativecommons.org/licenses/by/4.0/","subitem_1522651041219":"https://creativecommons.org/licenses/by/4.0/"}]},"item_1617186626617":{"attribute_name":"Description","attribute_value_mlt":[{"subitem_description":"Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous missense mutations of p.Arg275Gln within the SLC25A20 gene. One patient died from hypoglycemia and arrhythmia at 26 months; his pathological autopsy revealed increased and enlarged mitochondria in the heart but not in the liver.","subitem_description_type":"Other"},{"subitem_description":"論文","subitem_description_type":"Other"}]},"item_1617186643794":{"attribute_name":"Publisher","attribute_value_mlt":[{"subitem_1522300295150":"en","subitem_1522300316516":"Springer Nature"}]},"item_1617186702042":{"attribute_name":"Language","attribute_value_mlt":[{"subitem_1551255818386":"eng"}]},"item_1617186783814":{"attribute_name":"Identifier","attribute_value_mlt":[{"subitem_identifier_type":"HDL","subitem_identifier_uri":"http://hdl.handle.net/20.500.12000/47023"}]},"item_1617186920753":{"attribute_name":"Source Identifier","attribute_value_mlt":[{"subitem_1522646500366":"ISSN","subitem_1522646572813":"2054-345X"}]},"item_1617186941041":{"attribute_name":"Source Title","attribute_value_mlt":[{"subitem_1522650068558":"en","subitem_1522650091861":"Human Genome Variation"}]},"item_1617187056579":{"attribute_name":"Bibliographic Information","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-04-16","bibliographicIssueDateType":"Issued"},"bibliographicVolumeNumber":"7"}]},"item_1617258105262":{"attribute_name":"Resource Type","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_1617265215918":{"attribute_name":"Version Type","attribute_value_mlt":[{"subitem_1522305645492":"VoR","subitem_1600292170262":"http://purl.org/coar/version/c_970fb48d4fbd8a85"}]},"item_1617353299429":{"attribute_name":"Relation","attribute_value_mlt":[{"subitem_1522306287251":{"subitem_1522306382014":"DOI","subitem_1522306436033":"https://doi.org/10.1038/s41439-020-0098-y"}},{"subitem_1522306287251":{"subitem_1522306382014":"DOI","subitem_1522306436033":"https://doi.org/10.1038/s41439-020-0098-y"}}]},"item_1617605131499":{"attribute_name":"File","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","filename":"s41439-020-0098-y.pdf","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://u-ryukyu.repo.nii.ac.jp/record/2011168/files/s41439-020-0098-y.pdf"},"version_id":"2cb46471-8d06-469b-977c-73b45aa615a3"}]},"item_title":"A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data","item_type_id":"15","owner":"1","path":["1642838338003","1642838407795"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2020-10-20"},"publish_date":"2020-10-20","publish_status":"0","recid":"2011168","relation_version_is_last":true,"title":["A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-08-03T05:38:06.528159+00:00"}