Sasai Hideo 笹井英雄

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笹井英雄ササイヒデオ

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Researcher Number	20509781
Other IDs
Affiliation (Current)	2025: 岐阜大学, 大学院医学系研究科, 特任准教授
Affiliation (based on the past Project Information) *help	2025: 岐阜大学, 大学院医学系研究科, 特任准教授 2023: 岐阜大学, 大学院医学系研究科, 特任准教授 2022: 岐阜大学, 大学院医学系研究科小児希少難病早期診断・予防医学講座, 特任准教授 2020: 岐阜大学, 大学院医学系研究科小児科学, 助教 2017 – 2020: 岐阜大学, 医学部附属病院, 助教
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 54040:Metabolism and endocrinology-related / Pediatrics
Keywords	Principal Investigator ケトン体代謝異常症 / 先天代謝異常症 / マルチオミックス解析 / ケトン体 / HSD10病 / 17β-hydroxysteroid

Integrated Multi-omics Approaches for Diagnostic Support and Pathophysiological Insights into Disorders of Ketone Body MetabolismPrincipal Investigator
- Principal Investigator
  
  笹井英雄
- Project Period (FY)
  2025 – 2027
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Gifu University
Developments of comprehensive diagnosis and analysis systems for disorders of ketone body metabolismPrincipal Investigator
- Principal Investigator
  
  笹井英雄
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Gifu University
Molecular and functional analysis of HSD 10 diseasePrincipal Investigator
- Principal Investigator
  
  Sasai Hideo
- Project Period (FY)
  2019 – 2020
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 54040:Metabolism and endocrinology-related
- Research Institution
  Gifu University
Functional analysis of HSD 10 diseasePrincipal Investigator
- Principal Investigator
  
  Sasai Hideo
- Project Period (FY)
  2017 – 2018
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Gifu University

All 2024 2023 2022 2021 2020 2019 2018 2017

All Journal Article Presentation Book

[Book] 外来で見つける先天代謝異常症シマウマ診断の勧め(窪田満編) 「岐阜大学大学院医学系研究科小児科学教室」2023
- Author(s)
  笹井英雄
- Total Pages
  2
- Publisher
  中山書店
- ISBN
  9784521749242
- Data Source
  KAKENHI-PROJECT-22K07889
[Book] 外来で見つける先天代謝異常症シマウマ診断の勧め(窪田満編) 「遺伝子診断」2023
- Author(s)
  笹井英雄
- Total Pages
  7
- Publisher
  中山書店
- ISBN
  9784521749242
- Data Source
  KAKENHI-PROJECT-22K07889
[Book] 小児疾患診療のための病態生理3 改訂第6版(小児内科, 小児外科編集委員会共編) 「ケトン体代謝異常症」2022
- Author(s)
  笹井英雄
- Total Pages
  7
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-22K07889
[Book] 小児科診療 2021 Vol.84 No.2 「ケトン体代謝異常症」2021
- Author(s)
  笹井英雄
- Total Pages
  7
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-19K17959
[Book] 小児科診療 2021 Vol.84 No.2 「確定検査：遺伝子解析を中心に」2021
- Author(s)
  笹井英雄
- Total Pages
  7
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-19K17959
[Book] 今日の小児治療指針(第17版) 「ミトコンドリアβ酸化異常症」2020
- Author(s)
  笹井英雄
- Total Pages
  2
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-19K17959
[Book] よくわかる新生児マススクリーニングガイドブック(山口清次編) 「HSD10病」2019
- Author(s)
  笹井英雄, 深尾敏幸
- Total Pages
  2
- Publisher
  診断と治療社
- ISBN
  9784787823892
- Data Source
  KAKENHI-PROJECT-19K17959
[Journal Article] Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan2024
- Author(s)
  Tajima Go、Aisaki Junko、Hara Keiichi、Tsumura Miyuki、Kagawa Reiko、Sakura Fumiaki、Sasai Hideo、Yuasa Miori、Shigematsu Yosuke、Okada Satoshi
- Journal Title
  
  International Journal of Neonatal Screening
  
  Volume: 10 Issue: 1 Pages: 15-15
- DOI
  10.3390/ijns10010015
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K14943, KAKENHI-PROJECT-22K07889, KAKENHI-PROJECT-21K15904
[Journal Article] Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing2023
- Author(s)
  Hijikata A、Suyama M、Kikugawa S、Matoba R、Naruto T、Enomoto Y、Kurosawa K、Harada N、Yanagi K、Kaname T、Miyako K、Takazawa M、Sasai H、Hosokawa J、Itoga S、Yamaguchi T、Kosho T、Matsubara K、Kuroki Y、Fukami M、Adachi K、Nanba E、Tsuchida N、Uchiyama Y、Matsumoto N、Nishimura K、Ohara O
- Journal Title
  
  Nucleic Acids Research
  
  Volume: 52 Issue: 1 Pages: 114-124
- DOI
  10.1093/nar/gkad1140
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07889, KAKENHI-PROJECT-23K07229
[Journal Article] Novel ITPA variants identified by whole genome sequencing and RNA sequencing2023
- Author(s)
  Omichi Nanako、Kishita Yoshihito、Nakama Mina、Sasai Hideo、Terazawa Atsushi、Kobayashi Emiko、Fushimi Takuya、Sugiyama Yohei、Ichimoto Keiko、Nitta Kazuhiro R.、Yatsuka Yukiko、Ohtake Akira、Murayama Kei、Okazaki Yasushi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 68 Issue: 9 Pages: 649-652
- DOI
  10.1038/s10038-023-01156-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K15950, KAKENHI-PROJECT-22K07889, KAKENHI-PROJECT-23K07236
[Journal Article] Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity2023
- Author(s)
  Tajima Go、Hara Keiichi、Tsumura Miyuki、Kagawa Reiko、Sakura Fumiaki、Sasai Hideo、Yuasa Miori、Shigematsu Yosuke、Okada Satoshi
- Journal Title
  
  International Journal of Neonatal Screening
  
  Volume: 9 Issue: 4 Pages: 62-62
- DOI
  10.3390/ijns9040062
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K14943, KAKENHI-PROJECT-22K07889, KAKENHI-PROJECT-21K15904
[Journal Article] Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan2022
- Author(s)
  Kido J, Haberle J, Sugawara K, Tanaka T, Nagao M, Sawada T, Wada Y, Numakura C, Murayama K, Watanabe Y, Kojima-Ishii K, Sasai H, Kosugiyama K, Nakamura K.
- Journal Title
  
  J Inherit Metab Dis .
  
  Volume: none Issue: 3 Pages: 431-444
- DOI
  10.1002/jimd.12483
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08207, KAKENHI-PROJECT-20K08259, KAKENHI-PROJECT-22K07889
[Journal Article] The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening2022
- Author(s)
  Osawa Yoshimitsu、Kobayashi Hironori、Tajima Go、Hara Keiichi、Yamada Kenji、Fukuda Seiji、Hasegawa Yuki、Aisaki Junko、Yuasa Miori、Hata Ikue、Okada Satoshi、Shigematsu Yosuke、Sasai Hideo、Fukao Toshiyuki、Takizawa Takumi、Yamaguchi Seiji、Taketani Takeshi
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 136 Issue: 1 Pages: 74-79
- DOI
  10.1016/j.ymgme.2022.03.009
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07753, KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-22K07889, KAKENHI-PROJECT-19K08347
[Journal Article] Deficiency of 3‐hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting2020
- Author(s)
  Otsuka Hiroki、Kimura Takeshi、Ago Yasuhiko、Nakama Mina、Aoyama Yuka、Abdelkreem Elsayed、Matsumoto Hideki、Ohnishi Hidenori、Sasai Hideo、Osawa Masatake、Yamaguchi Seiji、Mitchell Grant A.、Fukao Toshiyuki
- Journal Title
  
  Journal of Inherited Metabolic Disease
  
  Volume: 43 Issue: 5 Pages: 960-968
- DOI
  10.1002/jimd.12243
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08770, KAKENHI-PROJECT-19K17959
[Journal Article] Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency2020
- Author(s)
  Nakama Mina、Sasai Hideo、Kubota Mitsuru、Hasegawa Yuki、Fujiki Ryoji、Okuyama Torayuki、Ohara Osamu、Fukao Toshiyuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 7 Issue: 1
- DOI
  10.1038/s41439-020-0097-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17959
[Journal Article] Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: <em>In vitro</em> functional analysis of five novel <em>HMGCS2</em> mutations2020
- Author(s)
  Ago Yasuhiko、Otsuka Hiroki、Sasai Hideo、Abdelkreem Elsayed、Nakama Mina、Aoyama Yuka、Matsumoto Hideki、Fujiki Ryoji、Ohara Osamu、Akiyama Kazumasa、Fukui Kaori、Watanabe Yoriko、Nakajima Yoko、Ohnishi Hidenori、Ito Tetsuya、Fukao Toshiyuki
- Journal Title
  
  Experimental and Therapeutic Medicine
  
  Volume: 20 Issue: 5 Pages: 1-1
- DOI
  10.3892/etm.2020.9166
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17959
[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
[Presentation] ミトコンドリアHMG-CoA合成酵素欠損症の兄妹例2023
- Author(s)
  松井美樹, 李知子, 起塚庸, 四本由郁, 小林弘典, 長谷川有紀, 笹井英雄, 竹島泰弘
- Organizer
  日本先天代謝異常学会学術集会(第64回)
- Data Source
  KAKENHI-PROJECT-22K07889
[Presentation] 代謝性アシドーシスからケトン体利用障害と診断した6歳男児2023
- Author(s)
  岩越智恭, 玉木鷹志, 植田智希, 池田, 麻衣子, 伊藤祥絵, 松岡佐知, 市川瑞穂, 木村量子, 西川和夫, 長谷川正幸, 星野伸, 森真以, 松本英樹, 笹井英雄
- Organizer
  日本小児科学会東海地方会(第289回)
- Data Source
  KAKENHI-PROJECT-22K07889
[Presentation] 追加NBSを開始して -各県における実情と問題点-（岐阜県）2023
- Author(s)
  笹井英雄
- Organizer
  東海マススクリーニング推進協会マススクリーニング推進セミナー(第4回)
- Invited
- Data Source
  KAKENHI-PROJECT-22K07889
[Presentation] Functional analysis of a novel variant identified in the tetramerization loop of ACAT12023
- Author(s)
  肖月, 笹井英雄, 森真以, 松本英樹, 大塚博樹, 青山友佳, 小関道夫, 川本典生, 大西秀典
- Organizer
  日本先天代謝異常学会学術集会(第64回)
- Data Source
  KAKENHI-PROJECT-22K07889
[Presentation] 未解決症例を対象とした全ゲノム解析およびRNA-seqによるITPA遺伝子異常の同定2023
- Author(s)
  大道納菜子, 新田和広, 八塚由紀子, 仲間美奈, 寺澤厚志, 小林瑛美子, 伏見拓也, 杉山洋平, 市本景子, 笹井英雄, 大竹明, 村山圭, 岡崎康司, 木下善仁
- Organizer
  日本遺伝カウンセリング学会学術集会(第47回)
- Data Source
  KAKENHI-PROJECT-22K07889
[Presentation] 様々なスクリーニング対象疾患の診断における遺伝学的検査の有用性2023
- Author(s)
  笹井英雄
- Organizer
  日本小児遺伝学会学術集会(第45回)
- Invited
- Data Source
  KAKENHI-PROJECT-22K07889
[Presentation] セカンドライン検査から1歩先へ　- 遺伝学的検査 -2023
- Author(s)
  笹井英雄
- Organizer
  日本先天代謝異常学会学術集会(第64回)
- Invited
- Data Source
  KAKENHI-PROJECT-22K07889
[Presentation] 岐阜県における追加新生児マススクリーニングの現状2023
- Author(s)
  笹井英雄
- Organizer
  日本マススクリーニング学会学術集会(第50回)
- Invited
- Data Source
  KAKENHI-PROJECT-22K07889
[Presentation] Evaluation system for the variants of unknown significance in GLUL with cell-based assay2023
- Author(s)
  松本英樹, 笹井英雄, 肖月, 森真以, 大塚博樹, 青山友佳, 小関道夫, 川本典生, 大西秀典
- Organizer
  日本先天代謝異常学会学術集会(第64回)
- Data Source
  KAKENHI-PROJECT-22K07889
[Presentation] 岐阜県における追加新生児マススクリーニングの現状2022
- Author(s)
  笹井英雄, 森真以, 松本英樹, 堀友博, 久保田一生, 折居建治, 下澤伸行, 鈴木康之, 小川恵, 大西秀典
- Organizer
  日本小児科学会学術集会(第125回)
- Data Source
  KAKENHI-PROJECT-22K07889
[Presentation] 高ケトン、低ケトン血症からみつける先天代謝異常.2020
- Author(s)
  笹井英雄
- Organizer
  日本先天代謝異常学会セミナー(第16回)
- Invited
- Data Source
  KAKENHI-PROJECT-19K17959
[Presentation] わが国での新規対象疾患の選定基準を策定する上での論点について考える; 指標の感度や特異度が十分でない疾患.2020
- Author(s)
  笹井英雄
- Organizer
  日本マススクリーニング学会学術集会(第47回)
- Data Source
  KAKENHI-PROJECT-19K17959
[Presentation] Summary of 5-year gene panel study for target inherited metabolic diseases in newborn screening -fatty acid oxidation defects-2019
- Author(s)
  Sasai H, Ago Y, Matsumoto H, Otsuka H, Hosokawa J, Fujiki R, Ohara O, Nakajima Y, Ito T, Hara K, Kobayashi M, Tajima G, Ichinoi N, Sakamoto O, Jun K, Matsumoto S, Nakamura K, Hamazaki T, Kobayashi H, Hasegawa Y, Fukao T
- Organizer
  The 6th Annual International Network for Fatty Acid Oxidation Research and Management symposium
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17959
[Presentation] 新生児マススクリーニング対象先天代謝異常症に対する遺伝子パネル解析の5年間のまとめ2019
- Author(s)
  笹井英雄、吾郷耕彦、松本英樹、大塚博樹、細川淳一、藤木亮次、小原收、中島葉子、伊藤哲哉、小林弘典、長谷川有紀、原圭一、小林正久、但馬剛、市野井奈津子、城戸淳、松本志郎、中村公俊、濱崎孝史、深尾敏幸
- Organizer
  日本先天代謝異常学会総会（第61回）
- Data Source
  KAKENHI-PROJECT-19K17959
[Presentation] Summary of 5-year gene panel study for target inherited metabolic diseases in newborn screening2019
- Author(s)
  Sasai H, Ago Y, Matsumoto H, Otsuka H, Hosokawa J, Fujiki R, Ohara O, Nakajima Y, Ito T, Hara K, Kobayashi M, Tajima G, Ichinoi N, Sakamoto O, Jun K, Matsumoto S, Nakamura K, Hamazaki T, Kobayashi H, Hasegawa Y, Fukao T
- Organizer
  Annual symposium of the society for the study of inborn errors of metabolism 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17959
[Presentation] HSD17B10タンパクを用いたHSD10病の酵素活性測定2019
- Author(s)
  笹井英雄、吾郷耕彦、松本英樹、赤川翔平、秋葉和壽、長谷川行洋、小林正久、仲間美奈、青山友佳、深尾敏幸
- Organizer
  日本先天代謝異常学会総会（第61回）
- Data Source
  KAKENHI-PROJECT-19K17959
[Presentation] Gene panel study for target metabolic diseases of newborn mass screening in Japan2018
- Author(s)
  笹井英雄、吾郷耕彦、松本英樹、大塚博樹、細川淳一、藤木亮次、小原收、中島葉子、伊藤哲哉、小林弘典、長谷川有紀、原圭一、小林正久、但馬剛、坂本修、城戸淳、松本志郎、中村公俊、濱崎孝史、深尾敏幸
- Organizer
  日本先天代謝異常学会総会 (第60回)
- Data Source
  KAKENHI-PROJECT-17K16245
[Presentation] Gene panel study for target metabolic diseases in newborn mass screening2018
- Author(s)
  Sasai H, Ago Y, Otsuka H, Hosokawa J, Fujiki R, Ohara O, Nakajima Y, Ito T, Hara K, Kobayashi M, Tajima G, Sakamoto O, Matsumoto S, Nakamura K, Hamazaki T, Kobayashi H, Hasegawa Y, Fukao T
- Organizer
  Annual symposium of the society for the study of inborn errors of metabolism 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K16245
[Presentation] Functional analysis of mutant recombinant HSDl7Bl0 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 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K16245
[Presentation] 代謝性疾患マススクリーニング診療における遺伝子検査の重要性(意義) AMED深尾班の遺伝子パネルの現状2018
- Author(s)
  笹井英雄, 深尾敏幸
- Organizer
  日本マス・スクリーニング学会学術集会 (第45回)
- Data Source
  KAKENHI-PROJECT-17K16245
[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59回日本先天代謝異常学会学術集会
- Data Source
  KAKENHI-PROJECT-17K16245

1. KOBAYASHI Hironori

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 湯浅光織

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
3. 青山友佳

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
4. 大沢匡毅

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 八塚由紀子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
6. 城戸淳

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Sasai Hideo 笹井 英雄

笹井 英雄 ササイ ヒデオ

Research Projects

Research Products

Co-Researchers

Integrated Multi-omics Approaches for Diagnostic Support and Pathophysiological Insights into Disorders of Ketone Body MetabolismPrincipal Investigator

Principal Investigator

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Review Section

Research Institution

Developments of comprehensive diagnosis and analysis systems for disorders of ketone body metabolismPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Molecular and functional analysis of HSD 10 diseasePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Functional analysis of HSD 10 diseasePrincipal Investigator

Principal Investigator

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[Book] 外来で見つける先天代謝異常症 シマウマ診断の勧め(窪田満 編) 「岐阜大学大学院医学系研究科小児科学教室」2023

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[Book] 外来で見つける先天代謝異常症 シマウマ診断の勧め(窪田満 編) 「遺伝子診断」2023

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[Book] 小児疾患診療のための病態生理3 改訂第6版(小児内科, 小児外科 編集委員会共編) 「ケトン体代謝異常症」2022

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[Book] 小児科診療 2021 Vol.84 No.2 「ケトン体代謝異常症」2021

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[Book] 小児科診療 2021 Vol.84 No.2 「確定検査：遺伝子解析を中心に」2021

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[Book] 今日の小児治療指針(第17版) 「ミトコンドリアβ酸化異常症」2020

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[Book] よくわかる新生児マススクリーニングガイドブック(山口清次 編) 「HSD10病」2019

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[Journal Article] Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan2024

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[Journal Article] Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing2023

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[Journal Article] Novel ITPA variants identified by whole genome sequencing and RNA sequencing2023

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Sasai Hideo 笹井英雄

笹井英雄ササイヒデオ

[Book] 外来で見つける先天代謝異常症シマウマ診断の勧め(窪田満編) 「岐阜大学大学院医学系研究科小児科学教室」2023

[Book] 外来で見つける先天代謝異常症シマウマ診断の勧め(窪田満編) 「遺伝子診断」2023

[Book] 小児疾患診療のための病態生理3 改訂第6版(小児内科, 小児外科編集委員会共編) 「ケトン体代謝異常症」2022

[Book] よくわかる新生児マススクリーニングガイドブック(山口清次編) 「HSD10病」2019

[Presentation] セカンドライン検査から1歩先へ　- 遺伝学的検査 -2023