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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data

http://hdl.handle.net/20.500.12000/47023
http://hdl.handle.net/20.500.12000/47023
ab8c2d45-770a-4888-ae4e-0445b7bc7f8c
名前 / ファイル ライセンス アクション
s41439-020-0098-y.pdf s41439-020-0098-y.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-10-20
タイトル
タイトル A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy data
言語 en
作成者 Chinen, Yasutsugu

× Chinen, Yasutsugu

en Chinen, Yasutsugu

Yanagi, Kumiko

× Yanagi, Kumiko

en Yanagi, Kumiko

Nakamura, Sadao

× Nakamura, Sadao

en Nakamura, Sadao

Nakayama, Noriko

× Nakayama, Noriko

en Nakayama, Noriko

Kamiya, Motoko

× Kamiya, Motoko

en Kamiya, Motoko

Nakayashiro, Mami

× Nakayashiro, Mami

en Nakayashiro, Mami

Kaname, Tadashi

× Kaname, Tadashi

en Kaname, Tadashi

Naritomi, Kenji

× Naritomi, Kenji

en Naritomi, Kenji

Nakanishi, Koichi

× Nakanishi, Koichi

en Nakanishi, Koichi

アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 en
権利情報 Creative Commons Attribution 4.0
言語 en
権利情報Resource https://creativecommons.org/licenses/by/4.0/
権利情報 https://creativecommons.org/licenses/by/4.0/
内容記述
内容記述タイプ Other
内容記述 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.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Springer Nature
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/47023
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/s41439-020-0098-y
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/s41439-020-0098-y
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 2054-345X
収録物名
言語 en
収録物名 Human Genome Variation
書誌情報
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