Aoyama Yuka 青山友佳

… Alternative Names

AOYAMA Yuka 青山友佳

Less

Researcher Number	40460498
Other IDs
Affiliation (Current)	2026: 中部大学, 生命健康科学部, 准教授
Affiliation (based on the past Project Information) *help	2022 – 2025: 中部大学, 生命健康科学部, 准教授 2017 – 2018: 中部大学, 臨床検査技術教育・実習センター, 講師 2015 – 2016: 中部大学, 臨床検査技術教育・実習センター, 助教
Review Section/Research Field	Principal Investigator Basic Section 59040:Nutrition science and health science-related / Applied health science
Keywords	Principal Investigator ケトン体代謝異常症 / ケトン体 / 乳酸 / 先天性ケトン体代謝異常症 / ケトン体代謝 / 先天代謝異常症 / 先天性代謝異常症 / MCT1欠損症 / 分子栄養学 / モノカルボン酸トランスポーター … More / 乳幼児突然死 / 遺伝子多型解析 / 遺伝子多型 / モノカルボン酸トランスポーター(MCT) / 先天性ケトン体代謝異常 / MCT4 / SNP / MCT1 / Minigene splicing 実験 / スプライシング / HSD17B10 / HSD17B10遺伝子 / ACAT1遺伝子 / T2欠損症 / HSD10病 / minigene splice実験 / スプライシング異常 / ACAT1 / β-ケトチオラーゼ Less

Research Projects
(3 results)
Research Products
(38 results)

Evaluation of the Impact of MCT1 gene mutations on transmembrane protein function and ketone body and lactate metabolismPrincipal Investigator
- Principal Investigator
  
  青山友佳
- Project Period (FY)
  2025 – 2027
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 59040:Nutrition science and health science-related
- Research Institution
  Chubu University
Elucidation of aberrant ketone body metabolism in transporter polymorphisms and establishment of biomarkersPrincipal Investigator
- Principal Investigator
  
  青山友佳
- Project Period (FY)
  2022 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 59040:Nutrition science and health science-related
- Research Institution
  Chubu University
Asian T2 deficiency and HSD10 disease gene mutation identification and genotype-phenotype analysisPrincipal Investigator
- Principal Investigator
  
  AOYAMA Yuka
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Applied health science
- Research Institution
  Chubu University

All 2025 2024 2019 2018 2017 2016 2015

All Journal Article Presentation

[Journal Article] Functional Analysis of Novel Variants Located in the Tetramerization Loop of <i>ACAT1</i>2025
- Author(s)
  Xiao Yue、Sasai Hideo、Matsumoto Hideki、Mori Mai、Aoyama Yuka、Kawamoto Norio、Bratkovic Drago、Ohnishi Hidenori
- Journal Title
  
  Tohoku J. Exp. Med.
  
  Volume: 267 Issue: 1 Pages: 11-19
- DOI
  10.1620/tjem.2024.J132
- ISSN
  0040-8727, 1349-3329
- Language
  English
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07889, KAKENHI-PROJECT-22K11867
[Journal Article] ケトン体代謝異常症 -ケトン体利用障害の病態解析-2024
- Author(s)
  青山友佳
- Journal Title
  
  中部大学生命健康科学研究所紀要
  
  Volume: 20 Pages: 41-45
- Open Access
- Data Source
  KAKENHI-PROJECT-22K11867
[Journal Article] Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency2019
- Author(s)
  Fukao T, Sasai H, Aoyama Y, Otsuka H, Ago Y, Matsumoto H, Abdelkreem E.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 2 Pages: 99-111
- DOI
  10.1038/s10038-018-0524-x
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962, KAKENHI-PROJECT-17K16245
[Journal Article] Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons2018
- Author(s)
  Nakama M, Otsuka H, Ago Y, Sasai H, Abdelkreem E, Aoyama Y, Fukao T.
- Journal Title
  
  Gene
  
  Volume: 664 Pages: 84-89
- DOI
  10.1016/j.gene.2018.04.064
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-17K16245
[Journal Article] A novel mutation (c.121-13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene2017
- Author(s)
  Aoyama Y, Sasai H, Abdelkreem E, Otsuka H, Nakama M, Kumar S, Aroor S,Shukla A, Fukao T
- Journal Title
  
  Molecular Medicine Reports
  
  Volume: 印刷中 Issue: 6 Pages: 3879-3884
- DOI
  10.3892/mmr.2017.6434
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
[Journal Article] Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene. Molecular Genetics and Genomic Medicine2017
- Author(s)
  Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Nakama M, Hori T, Ohnishi H, Turner L, Fukao T
- Journal Title
  
  Molecular Genetics and Genomic Medicine
  
  Volume: 5 Issue: 2 Pages: 177-184
- DOI
  10.1002/mgg3.275
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
[Journal Article] Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis2017
- Author(s)
  Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Naiki Y, Kubota M, Sekine Y, Itoh M, Nakama M, Ohnishi H, Fujiki R, Ohara O, Fukao T
- Journal Title
  
  Journal of Inherited Metabolic Disease
  
  Volume: 40 Issue: 6 Pages: 845-852
- DOI
  10.1007/s10545-017-0065-z
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
[Journal Article] Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency2017
- Author(s)
  Abdelkreem E, Akella RR, Dave U, Sane S, Otsuka H, Sasai H, Aoyama Y, Nakama M, Ohnishi H, Mahmoud S, Abd El Aal M, Fukao T
- Journal Title
  
  JIMD reports
  
  Volume: 印刷中 Pages: 59-65
- DOI
  10.1007/8904_2016_26
- ISBN
  9783662558324, 9783662558331
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
[Journal Article] Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam2017
- Author(s)
  Nguyen KN, Abdelkreem E, Colombo R, Hasegawa Y, Can NT, Bui TP, Le HT, Tran MT, Nguyen HT, Trinh HT, Aoyama Y, Sasai H, Yamaguchi S, Fukao T, Vu DC
- Journal Title
  
  Journal of Inherited Metabolic Disease
  
  Volume: 40 Issue: 3 Pages: 395-401
- DOI
  10.1007/s10545-017-0026-6
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
[Journal Article] Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression2017
- Author(s)
  Akagawa S, Fukao T, Akagawa Y, Sasai H, Kohdera U, Kino M, Shigematsu Y, Aoyama Y, Kaneko K
- Journal Title
  
  JIMD reports
  
  Volume: 32 Pages: 81-85
- DOI
  10.1007/8904_2016_570
- ISBN
  9783662543849, 9783662543856
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
[Journal Article] Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature2017
- Author(s)
  Abdelkreem E, Alobaidy H, Aoyama Y, Mahmoud S, El Aal MA, Fukao T
- Journal Title
  
  The Egyptian Journal of Medical Human Genetics
  
  Volume: 18 Issue: 2 Pages: 100-203
- DOI
  10.1016/j.ejmhg.2016.11.001
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693, KAKENHI-PROJECT-16K09962
[Journal Article] 3-hydroxy-3-methylglutaryl CoA（HMGCL）lyase欠損症における新たな遺伝子診断法2016
- Author(s)
  青山友佳
- Journal Title
  
  中部大学生命健康科学研究所紀要
  
  Volume: 12 Pages: 87-91
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K01693
[Journal Article] Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site2016
- Author(s)
  Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Konstantopoulou V, Sass JO, Fukao T
- Journal Title
  
  Molecular Medicine Reports
  
  Volume: 14 Issue: 5 Pages: 4906-4910
- DOI
  10.3892/mmr.2016.5819
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Journal Article] Beta-Ketothiolase Deficiency: Resolving Challenges in Diagnosis. Journal of Inborn Errors of Metabolism and Screening2016
- Author(s)
  Abdelkreem E, Otsuka H, Sasai H, Aoyama Y, Hori T, Abd El Aal M, Mahmoud S, Fukao T
- Journal Title
  
  Journal of Inborn Errors of Metabolism & Screening
  
  Volume: 4 Pages: 1-9
- DOI
  10.1177/2326409816636644
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Journal Article] Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency2015
- Author(s)
  Aoyama Y, Yamamoto T, Sakaguchi N, Ishige M, Tanaka T, Ichihara T, Ohara K, Kouzan H, Kinosada Y, Fukao T.
- Journal Title
  
  International Journal of Molecular Medicine
  
  Volume: 35 Issue: 6 Pages: 1554-1560
- DOI
  10.3892/ijmm.2015.2184
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693, KAKENHI-PUBLICLY-26114708
[Presentation] ACAT1遺伝子におけるイントロン9のsplice acceptor siteのpoly T/C stretch変異はエクソン10のスキップをきたす2018
- Author(s)
  笹井英雄、中原茉保、宮部亜里紗、仲間美奈、大塚博樹、松本英樹、吾郷耕彦青山友佳、深尾敏幸
- Organizer
  第109回東海臨床遺伝・代謝懇話会
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] 日本におけるHMGCS欠損症患者の変異酵素の特徴2018
- Author(s)
  吾郷耕彦、大塚博樹、Elsayed Abdelkreem、笹井英雄、仲間美奈、青山友佳、西村洋子、中島葉子、伊藤哲哉、深尾敏幸、渡邊順子、福井香織、秋山和政、李知子
- Organizer
  第60回日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] 乳児期の3ヒドロキシ酪酸脱水素酵素(Bdh1)KOマウスにおける絶食負荷試験2018
- Author(s)
  大塚博樹、木村豪、吾郷耕彦、仲間美奈、Elsayed Abdelkreem、青山友佳、松本英樹、笹井英雄、大西秀典、深尾敏幸
- Organizer
  第60回日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] Functional analysis of mutant recombinant HSD17B10 proteins using an E. Coli expression system2018
- Author(s)
  Sasai H, Ohnishi H, Akagawa S, Akiba K, Hasegawa Y, Kobayashi M, Otsuka H, Aoyama Y, Ago Y, Fukao T.
- Organizer
  Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis2017
- Author(s)
  Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Naiki Y, Kubota M, Sekine Y, Itoh M, Nakama M, Ohnishi H, Fujiki R, Ohara O, Fukao T
- Organizer
  International Congress of Inborn Errors of Metabolism
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] 絶食負荷試験において3 ヒドロキシ酪酸脱水素酵素 (Bdh1) KOマウスではケトン体産生が障害される2017
- Author(s)
  大塚博樹、木村豪、吾郷耕彦、仲間美奈、Abdelkreem Elsayed, 青山友佳、笹井英雄、大西秀典、大沢匡毅、川島祐介、小原収、山口清次、深尾敏幸
- Organizer
  第58回日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis2017
- Author(s)
  Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Naiki Y, Kubota M, Sekine Y, Itoh M, Nakama M, Ohnishi H, Fujiki R, Ohara O, Fukao T
- Organizer
  Asia-Pacific Conference on Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] Pathophysiology of 3-Hydroxybutyrate Dehydrogenase (3HBD) deficiency in Ketone Body Metabolism using a Bdh1 Knockout Mouse Model2017
- Author(s)
  Otsuka H, Kimura T, Ago Y, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Osawa M, Yamaguchi S, Kawashima Y, Ohara O, Fukao T
- Organizer
  International Congress of Inborn Errors of Metabolism
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] リコンビナントHSD17B10タンパクを用いたHSD10病の病態解析2017
- Author(s)
  笹井英雄、大西秀典、赤川翔平、秋葉和壽、長谷川行洋、小林正久、大塚博樹、青山友佳、深尾敏幸
- Organizer
  第58回日本先天代謝異常学会
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] 3 ヒドロキシ酪酸脱水素酵素Bdh1 KO マウスの作成とその病態解析2016
- Author(s)
  大塚博樹、木村豪、仲間美奈、Elsayed Abdelkreem、青山友佳、笹井英雄、大西秀典、大沢匡毅、深尾敏幸
- Organizer
  第58回日本先天代謝異常学会
- Place of Presentation
  京王プラザホテル（東京都、新宿）
- Year and Date
  2016-10-27
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] Oral glucose tolerance tests in Japanese citrin-deficient siblings before and after MCT-oil supplementation2016
- Author(s)
  Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Kawamoto N, Kawamoto M, Ohnishi H, Numakura C, Hayasaka K, Fukao T
- Organizer
  Annual symposium of the society for the study of inborn errors of metabolism
- Place of Presentation
  Rome, Italy
- Year and Date
  2016-09-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] Clinical and mutational characterizations of 10 Indian patients with beta-ketothiolase deficiency2016
- Author(s)
  Elsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, Sudhir Sane, Hiroki Otsuka, Hideo Sasai, Yuka Aoyama, Mina Nakama, Hidenori Ohnishi, Shaimaa Mahmoud, Mohamed Abd El Aal, Toshiyuki Fukao
- Organizer
  第58回日本先天代謝異常学会
- Place of Presentation
  京王プラザホテル（東京都、新宿）
- Year and Date
  2016-10-27
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] ACAT1 遺伝子イントロン2 のc.121-13T ＞ A によるエクソン3スキップとスプライシングの予測2016
- Author(s)
  青山友佳、笹井英雄、大塚博樹、Elsayed Abdelkreem、深尾敏幸
- Organizer
  第43回日本マススクリーニング学会
- Place of Presentation
  ホテルさっぽろ芸文館（北海道、札幌）
- Year and Date
  2016-08-26
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] An c. IVS9-9 T >A substitution identified in beta-ketothiolase deficient patients results in exon 10 skipping in most transcripts of ACAT1 gene2016
- Author(s)
  Fukao T, Sasai H, Otsuka H, Aoyama Y, Elsayed A, Nakama M, Hori T, Ohnishi H, Turner L, Sweetman L
- Organizer
  Annual symposium of the society for the study of inborn errors of metabolism
- Place of Presentation
  Rome, Italy
- Year and Date
  2016-09-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] ACAT1遺伝子のエクソン10のc.949G>Aによるエクソン10スキップ2015
- Author(s)
  大塚博樹、笹井英雄、青山友佳、深尾敏幸
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場（大阪府）
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] ACAT1遺伝子におけるイントロン9のsplice acceptor siteでのpolyT/C内の単一塩基置換(T to A)がエクソン10のスキップをきたす2015
- Author(s)
  笹井秀雄、大塚博樹、青山友佳、堀友博、久保田一生、折居建治、深尾敏幸
- Organizer
  第60回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル（東京都）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] Two patients with atypical form and one with infantile form of HSD10 disease were identified in Japan2015
- Author(s)
  Fukao T, Sasai H, Aoyama Y, Akiba K, Goto M, Hasegawa Y, Kobayashi M, Ida H, Akagawa S, Hasegawa Y, Yamaguchi S, Shigematsu Y.
- Organizer
  Annual symposium of the society for the study of inborn erroros of metabolism
- Place of Presentation
  Lyon (France)
- Year and Date
  2015-09-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] OXCT1ヘテロキャリアーでもケトアシドーシス発作を起こしうる2015
- Author(s)
  笹井英雄、青山友佳、大塚博樹、堀友博、藤木亮次、小原收、深尾敏幸
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場（大阪府）
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] OXCT1 heterozygous carriers could develop severe ketoacidotic episodes in conjunction with ketogenic stresses2015
- Author(s)
  Sasai H, Aoyama Y, Ohtsuka H, Ohara O, Fukao T.
- Organizer
  Annual symposium of the society for the study of inborn erroros of metabolism
- Place of Presentation
  Lyon (France)
- Year and Date
  2015-09-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] ミトコンドリアHMG-CoA合成酵素欠損症の2症例における臨床的、生化学的共通点2015
- Author(s)
  中島葉子、深尾敏幸、加藤沙耶香、中野優、笹井英雄、青山友佳、長谷川有紀、酒井好美、吉川哲史、伊藤哲哉
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場（大阪府）
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] First two patients with mitochondrial HMG-CoA synthase deficiency in Asia2015
- Author(s)
  Nakajima Y, Fukao T, Nakano Y, Sasai H, Aoyama Y, Kato S, Hasegawa Y, Sakai Y, Yoshikawa T, Ito T.
- Organizer
  Annual symposium of the society for the study of inborn erroros of metabolism
- Place of Presentation
  Lyon (France)
- Year and Date
  2015-09-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] シトリン欠損症の兄妹例で行ったグルコース負荷試験およびMCTオイル投与の効果2015
- Author(s)
  大塚博樹、笹井英雄、青山友佳、川本典生、川本美奈子、松井永子、深尾敏幸
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場（大阪府）
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K01693
[Presentation] ACAT1遺伝子のイントロン２内のc.121-13T>A変異によるエクソン3のスキップ2015
- Author(s)
  青山友佳、笹井英雄、大塚博樹、Sandeep Kumar、Anju Sukla、 Shrikiran Aroor、Suneel Mundkur、深尾敏幸
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場（大阪府）
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K01693

Aoyama Yuka 青山 友佳

AOYAMA Yuka 青山 友佳

Research Projects

Research Products

Evaluation of the Impact of MCT1 gene mutations on transmembrane protein function and ketone body and lactate metabolismPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Elucidation of aberrant ketone body metabolism in transporter polymorphisms and establishment of biomarkersPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Asian T2 deficiency and HSD10 disease gene mutation identification and genotype-phenotype analysisPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Functional Analysis of Novel Variants Located in the Tetramerization Loop of <i>ACAT1</i>2025

Author(s)

Journal Title

DOI

ISSN

Language

Data Source

[Journal Article] ケトン体代謝異常症 -ケトン体利用障害の病態解析-2024

Author(s)

Journal Title

Data Source

[Journal Article] Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency2019

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons2018

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A novel mutation (c.121-13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene2017

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene. Molecular Genetics and Genomic Medicine2017

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis2017

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency2017

Author(s)

Journal Title

DOI

ISBN

Data Source

[Journal Article] Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam2017

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression2017

Author(s)

Journal Title

DOI

ISBN

Data Source

[Journal Article] Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature2017

Author(s)

Journal Title

DOI

Data Source

Aoyama Yuka 青山友佳

AOYAMA Yuka 青山友佳