Kobayashi Hironori 小林弘典

… Alternative Names

小林弘典コバヤシヒロノリ

KOBAYASHI Hironori 小林弘典

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Researcher Number	70397868
Other IDs	https://orcid.org/0000-0001-9091-3521
Affiliation (Current)	2024: 島根大学, 学術研究院医学・看護学系, 講師
Affiliation (based on the past Project Information) *help	2021 – 2022: 島根大学, 学術研究院医学・看護学系, 講師 2018 – 2019: 島根大学, 学術研究院医学・看護学系, 助教 2009 – 2017: Shimane University, 医学部, 助教
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Basic Section 53040:Nephrology-related / Pediatrics
Keywords	Principal Investigator タンデムマス / アシルカルニチン / カルニチン / 脂肪酸代謝異常症 / LC-MS/MS / アシルカルニチン分析 / MCAD / 酵素活性 / 酵素活性測定 / 中鎖アシルCoA脱水素酵素欠損症 … More / 極長鎖アシルCoA脱水素酵素欠損症 / 残存酵素活性測定 / 新生児マススクリーニング / 極長鎖アシルCoA脱水素酵素 / VLCAD / ミトコンドリアβ酸化 / 成人発症 / 質量分析 / 先天代謝異常症 / 有機酸代謝異常症 / 心筋症 / 妊娠 / グルタル酸血症2型 / 血清 / VLCAD欠損症 / 肝硬変 / 臨床検査 / 成人 / バルプロ酸 / ピバリン酸 / 薬剤性カルニチン欠乏症 / ピバロイルカルニチン / in vitro probe assay / 低血糖 / 急性脳症 / 全身性カルニチン欠乏症 / 遊離カルニチン / シベレスタット / ピボキシル基 / カルニチン欠乏症 / ライ様症候群 / セレウリド / セレウス菌 / ミトコンドリア / 脂肪酸代謝障害 / 分析科学 / ゲノム / 脂質 … More Except Principal Investigator BAIBA / 糖尿病性腎症 / 線維化 / 抗老化 / 腎臓 / サルコペニア / 急性脳症 / ベザフィブレート / β酸化能 / 薬剤安全性 / インフルエンザ脳症 / 脂肪酸代謝異常 Less

サルコペニア合併糖尿病性腎臓病における負のスパイラルを標的とした治療戦略の開発
- Principal Investigator
  
  金崎啓造
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 53040:Nephrology-related
- Research Institution
  Shimane University
Establishment and operation of a method for evaluating enzyme activity in VLCAD and MCADPrincipal Investigator
- Principal Investigator
  
  小林弘典
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shimane University
Establishment of diagnostic methods for adult-onset fatty acid metabolism disorders and elucidation of their clinical featuresPrincipal Investigator
- Principal Investigator
  
  Hironori Kobayashi
- Project Period (FY)
  2016 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
A study on clinical features and pathophysiology of drug-induced carnitine deficiencyPrincipal Investigator
- Principal Investigator
  
  Kobayashi Hironori
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
A study of Reye-like syndrome associated with emetic toxin of bacillus cereusPrincipal Investigator
- Principal Investigator
  
  KOBAYASHI Hironori
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
Development of evaluation method of drug safety for children using cultured cells and tandem mass spectrometry
- Principal Investigator
  
  YAMAGUCHI Seiji
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University
A study on the diagnosis and pathophysiology of carnitine deficiencyPrincipal Investigator
- Principal Investigator
  
  KOBAYASHI Hironori
- Project Period (FY)
  2009 – 2010
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Shimane University

All 2022 2020 2019 2018 2017 2016 2015 2014 2012 2011 2010 2009 Other

All Journal Article Presentation

[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] Blood carnitine profiling on tandem mass spectrometry in liver cirrhotic patients2020
- Author(s)
  Miyaaki Hisamitsu、Kobayashi Hironori、Miuma Satoshi、Fukusima Masanori、Sasaki Ryu、Haraguchi Masafumi、Nakao Kazuhiko
- Journal Title
  
  BMC Gastroenterology
  
  Volume: 20 Issue: 1 Pages: 41-41
- DOI
  10.1186/s12876-020-01190-6
- NAID
  120006988288
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07975, KAKENHI-PROJECT-16K09969
[Journal Article] Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening2020
- Author(s)
  Bo Ryosuke、Musha Ikuma、Yamada Kenji、Kobayashi Hironori、Hasegawa Yuki、Awano Hiroyuki、Arao Masato、Kikuchi Toru、Taketani Takeshi、Ohtake Akira、Yamaguchi Seiji、Iijima Kazumoto
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 24 Pages: 100611-100611
- DOI
  10.1016/j.ymgmr.2020.100611
- NAID
  120006882474
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-19K08347, KAKENHI-PROJECT-19K17298
[Journal Article] Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report2019
- Author(s)
  Yamada Kenji、Ito Michinori、Kobayashi Hironori、Hasegawa Yuki、Fukuda Seiji、Yamaguchi Seiji、Taketani Takeshi
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 7 Pages: 638-642
- DOI
  10.1016/j.braindev.2019.04.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-16K21179
[Journal Article] Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis2019
- Author(s)
  Ishige Mika、Fuchigami Tatsuo、Furukawa Maki、Kobayashi Hironori、Fujiki Ryoji、Ogawa Erika、Ishige Nobuyuki、Sasai Hideo、Fukao Toshiyuki、Hashimoto Koji、Inamo Yasuji、Morioka Ichiro
- Journal Title
  
  Journal of Infection and Chemotherapy
  
  Volume: 25 Issue: 11 Pages: 913-916
- DOI
  10.1016/j.jiac.2019.04.020
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09969
[Journal Article] Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby2019
- Author(s)
  Yamada Kenji、Matsubara Keiichi、Matsubara Yuko、Watanabe Asami、Kawakami Sanae、Ochi Fumihiro、Kuwabara Kozue、Mushimoto Yuichi、Kobayashi Hironori、Hasegawa Yuki、Fukuda Seiji、Yamaguchi Seiji、Taketani Takeshi
- Journal Title
  
  JIMD Reports
  
  Volume: 49 Issue: 1 Pages: 17-20
- DOI
  10.1002/jmd2.12061
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-19K08347, KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-16K21179
[Journal Article] Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers2019
- Author(s)
  Yamada Kenji、Osawa Yoshimitsu、Kobayashi Hironori、Hasegawa Yuki、Fukuda Seiji、Yamaguchi Seiji、Taketani Takeshi
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 21 Pages: 100535-100535
- DOI
  10.1016/j.ymgmr.2019.100535
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08300, KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-16K21179
[Journal Article] Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.2018
- Author(s)
  Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yang Y, Dung VC, Khanh NN, Verma IC, Bijarnia-Mahay S, Lee DH, Niu DM, Hoffmann GF, Shigematsu Y, Fukao T, Fukuda S, Taketani T, Yamaguchi S
- Journal Title
  
  Molecular genetics and metabolism reports
  
  Volume: 16 Pages: 5-10
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09969
[Journal Article] Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.2017
- Author(s)
  Bo R, Yamada K, Kobayashi H, Jamiyan P, Hasegawa Y, Taketani T, Fukuda S, Hata I, Niida Y, Shigematsu Y, Iijima K, Yamaguchi S
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Pages: 809-814
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09969
[Journal Article] A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth.2017
- Author(s)
  Yamada K, Bo R, Kobayashi H, Hasegawa Y, Ago M, Fukuda S, Yamaguchi S, Taketani T
- Journal Title
  
  Mol Genet Metab Reports
  
  Volume: 11 Pages: 59-61
- NAID
  120006373818
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09969
[Journal Article] Clinical and molecular investigation of 14 Japanesepatients with complete TFP deficiency: a comparisonwith Caucasian cases2017
- Author(s)
  Bo R, Yamada K, Kobayashi H, Jamiyan P, Hasegawa Y, Taketani T, Fukuda S, Hata I, Niida Y, Shigematsu Y, Iijima K, Yamagushi S
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Pages: 809-814
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09969
[Journal Article] Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay2017
- Author(s)
  Yamada K, Kobayashi H, Bo R, Purevsuren J, Mushimoto Y, Takahashi T, Hasegawa Y, Taketani T, Fukuda S, Yamaguchi S
- Journal Title
  
  Brain & Development
  
  Volume: 39 Pages: 45-49
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09969
[Journal Article] Clinical Features of Carnitine Deficiency Secondary to Pivalate-Conjugated Antibiotic Therapy2016
- Author(s)
  Kobayashi H, Fukuda S, Yamada K, Hasegawa Y, Takahashi T, Purevsuren J, Yamaguchi S
- Journal Title
  
  J Pediatr.
  
  Volume: April Pages: 183-187
- DOI
  10.1016/j.jpeds.2016.02.080
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25461552, KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-16K09969, KAKENHI-PROJECT-16K21179
[Journal Article] Metabolic survey of hidden inherited metabolic diseases in children with apparent life-threatening event (ALTE) or sudden unexpected death in infancy (SUDI) by analyses of organic acids and acylcarnitines using mass spectrometries2016
- Author(s)
  Takahashi T, Hasegawa Y, Yamada K, Bo R, Kobayashi H, Taketani T, Fukuda S, Yamaguchi S
- Journal Title
  
  Shimane Journal of Medical Science
  
  Volume: 32 Pages: 61-68
- NAID
  120005749747
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09969
[Journal Article] 新生児マススクリーニングを契機に診断された母の全身性カルニチン欠乏症2016
- Author(s)
  中澤枝里子，菊池信行，小林弘典，長谷川有紀，窪田満，山口清次
- Journal Title
  
  日本マススクリーニング学会雑誌
  
  Volume: 26
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25461552
[Journal Article] Elevation of pivaloylcarnitine by sivelestat sodium in two children2015
- Author(s)
  Yamada K, Kobayashi H, Bo R, Takahashi T, Hasegawa T, Nakamura M, Ishige N, Yamaguchi S
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 116 Issue: 3 Pages: 192-194
- DOI
  10.1016/j.ymgme.2015.09.009
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-25461552, KAKENHI-PROJECT-26870379
[Journal Article] Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency2012
- Author(s)
  Purevsuren J, Hasegawa Y, Fukuda S, Kobayashi H, Mushimoto Y, Yamada K, Takahashi T, Fukao T, Yamaguchi S
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 107 Pages: 237-240
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791176
[Journal Article] Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: Evaluation by in vitro probe acylcarnitine assay2012
- Author(s)
  Yamaguchi S, Li H, Purevsuren J, Yamada K, Furui M, Takahashi T, Mushimoto Y, Kobayashi H, Hasegawa Y, Taketani T, Fukao T, Fukuda S
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 107 Pages: 87-91
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791176
[Journal Article] GC/MS有機酸分析で発見される小児の後天性ビタミン欠乏症:ビタミンB1欠乏症とビオチン欠乏症2012
- Author(s)
  山口清次, 長谷川有紀, 虫本雄一, 小林弘典, プレブスレン・ジャミヤン
- Journal Title
  
  ビタミン
  
  Volume: 86(1) Pages: 32-36
- Data Source
  KAKENHI-PROJECT-22659195
[Journal Article] Retrospective review of Japanese sudden unexpected death in infancy : The importance of metabolic autopsy and expanded newborn screening2011
- Author(s)
  Yamamoto T, Tanaka H, Kobayashi H, Okamura K, et al.
- Journal Title
  
  Mol Genet Metab.
  
  Volume: 102巻 Pages: 399-406
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence2011
- Author(s)
  Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 104(4) Pages: 556-559
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791176
[Journal Article] Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 12011
- Author(s)
  Mushimoto Y, Yamaguchi S (8/8), et al
- Journal Title
  
  Mol Genet Metab
  
  Volume: 102 Issue: 3 Pages: 343-348
- DOI
  10.1016/j.ymgme.2010.11.159
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-22659195, KAKENHI-PROJECT-22790983
[Journal Article] Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 12011
- Author(s)
  Mushimoto Y, Fukuda S, Hasegawa Y, Kobayashi H, et al.
- Journal Title
  
  Mol Genet Metab.
  
  Volume: 102巻 Pages: 343-348
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.2011
- Author(s)
  Mushimoto Y, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Li H, Taketani T, Yamaguchi S.
- Journal Title
  
  Mol Genet Metab. 102(3)
  
  Pages: 343-348
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Retrospective review of Japanese sudden unexpected death in infancy: The importance of metabolic autopsy and expanded newborn screening.2011
- Author(s)
  Yamamoto T, Tanaka H, Kobayashi H, Okamura K, Tanaka T, Emoto Y, Sugimoto K, Nakatome M, Sakai N, Kuroki H, Yamaguchi S, Matoba R.
- Journal Title
  
  Mol Genet Metab. 102(4)
  
  Pages: 399-406
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Retrospective review of Japanese sudden unexpected death in infancy : The importance of metabolic autopsy and expanded newborn screening2011
- Author(s)
  Yamamoto T
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 102 Issue: 4 Pages: 399-406
- DOI
  10.1016/j.ymgme.2010.12.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-10F00430, KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-22659195
[Journal Article] Retrospective review of Japanese sudden unexpected death in infancy: The importance of metabolic autopsy and expanded newborn screening2011
- Author(s)
  Yamamoto T, Tanaka H, Kobayashi H, Okamura K, Tanaka T, Emoto Y, Sugimoto K, Nakatome M, Sakai N, Kuroki H, Yamaguchi S, Matoba R
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 102(4) Pages: 399-406
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791176
[Journal Article] Two-Source Capture Recapture Methodを用いた日本におけるメチルマロン酸血症の発症率及び小児慢性特定疾患治療研究事業での登録率の検討2010
- Author(s)
  顧艶紅, 小林弘典, 加藤忠明, 長谷川有紀, 原田正平, 山口清次
- Journal Title
  
  日本マス・スクリーニング学会誌 20(1)
  
  Pages: 33-37
- NAID
  10029813603
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] タンデムマス導入による新生児マススクリーニングの新時代タンデムマスによる新生児スクリーニングに対するin vitro probe acylcarnitine profiling assayによる脂肪酸β酸化能評価の有用性に関する検討2010
- Author(s)
  小林弘典, 李紅, プレブスレン・ジャミヤン, 虫本雄一, 長谷川有紀, 山口清次
- Journal Title
  
  日本先天代謝異常学会雑誌
  
  Volume: 26巻 Pages: 50-54
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] 新生児拡大マススクリーニングタンデムマス法2010
- Author(s)
  小林弘典
- Journal Title
  
  小児科臨床
  
  Volume: 63巻 Pages: 2063-2069
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.2010
- Author(s)
  Endo M, Hasegawa Y, Fukuda S, Kobayashi H, Yotsumoto Y, Mushimoto Y, Li H, Purevsuren J, Yamaguchi S.
- Journal Title
  
  J Chromatogr B 878(20)
  
  Pages: 1673-1676
- NAID
  10028037822
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] 新生児医療の最前線新しい新生児マススクリーニングタンデムマスの導入2010
- Author(s)
  小林弘典, 山口清次
- Journal Title
  
  Neonatal Care
  
  Volume: 23巻 Pages: 889-894
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] タンデムマスによる新生児マススクリーニング2010
- Author(s)
  小林弘典, 山口清次
- Journal Title
  
  小児科
  
  Volume: 51巻 Pages: 1697-1700
- NAID
  40017391005
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] 幼児期に繰り返す嘔吐発作で発症したメチルマロン酸血症の同胞例2010
- Author(s)
  粟野宏之, 八木麻理子, 起塚庸, 小林弘典, 長谷川有紀, 山口清次, 坂本修, 大浦敏博, 竹島泰弘, 松尾雅文
- Journal Title
  
  日本小児科学会雑誌 114(6)
  
  Pages: 961-965
- NAID
  10026413753
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Heat stress deteriorates mitochondrial β-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid β-oxidation disorders2010
- Author(s)
  Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S
- Journal Title
  
  Journal of Chromatography B
  
  Volume: 878巻 Pages: 1669-1672
- NAID
  10028037801
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22659195
[Journal Article] Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.2010
- Author(s)
  Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N.
- Journal Title
  
  Tohoku J Exp Med. 221(3)
  
  Pages: 191-195
- NAID
  10027084985
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.2010
- Author(s)
  Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NT, Pham AT, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TP, Niezen-Koning KE, Wanders RJ, de Koning T, Nguyen LT, Yamaguchi S, Kondo N.
- Journal Title
  
  Mol Genet Metab. 100(1)
  
  Pages: 37-41
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Carnitine palmitoyltransferase 2 deficiency : the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation2010
- Author(s)
  Hori T, Fukao T, Kobayashi H, Teramoto T, et al.
- Journal Title
  
  Tohoku J Exp Med.
  
  Volume: 221巻 Pages: 191-195
- NAID
  10027084985
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders2010
- Author(s)
  Li H, Fukuda S, Hasegawa Y, Purevsuren J, Kobayashi H, Mushimoto Y, Yamaguchi S.
- Journal Title
  
  J Chromatogr B Analyt Technol Biomed Life Sci
  
  Volume: 878巻 Pages: 1669-1672
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type22010
- Author(s)
  Endo M, Yamaguchi S (9/9), et al
- Journal Title
  
  J Chromatogr B
  
  Volume: 878 Issue: 20 Pages: 1673-1676
- DOI
  10.1016/j.jchromb.2010.03.029
- NAID
  10028037822
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-22659195, KAKENHI-PROJECT-22790983
[Journal Article] Effect of heat stress and bezafibrate on mitochondrial β-oxidation : Comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay2010
- Author(s)
  Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S
- Journal Title
  
  Brain, Development
  
  Volume: 32巻 Pages: 362-370
- NAID
  10027491314
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22659195
[Journal Article] 新生児医療の最前線新しい新生児マススクリーニングタンデムマスの導入2010
- Author(s)
  小林弘典, 山口清次
- Journal Title
  
  Neonatal Care 23(9)
  
  Pages: 889-894
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.2010
- Author(s)
  Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S.
- Journal Title
  
  Brain Dev. 32(5)
  
  Pages: 362-370
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.2010
- Author(s)
  Li H, Fukuda S, Hasegawa Y, Purevsuren J, Kobayashi H, Mushimoto Y, Yamaguchi S.
- Journal Title
  
  J Chromatogr B 878(20)
  
  Pages: 1669-1672
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 22010
- Author(s)
  Endo M, Hasegawa Y, Fukuda S, Kobayashi H, Yotsumoto Y, et al.
- Journal Title
  
  J Chromatogr B Analyt Technol Biomed Life Sci
  
  Volume: 878巻 Pages: 1673-1676
- NAID
  10028037822
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] タンデムマスによる新生児マススクリーニング2010
- Author(s)
  小林弘典, 山口清次
- Journal Title
  
  小児科 51(12)
  
  Pages: 1697-1700
- NAID
  40017391005
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Effect of heat stress and bezafibrate on mitochondrial beta-oxidation : comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay2010
- Author(s)
  Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S.
- Journal Title
  
  Brain Dev
  
  Volume: 32巻 Pages: 362-370
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] タンデムマスによる新生児・乳幼児突然死をきたす先天代謝異常症の早期発見2010
- Author(s)
  小林弘典, 山口清次
- Journal Title
  
  産婦人科の実際 59(6)
  
  Pages: 931-936
- NAID
  40017165316
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan.2010
- Author(s)
  Tsuburaya R, Sakamoto O, Arai N, Kobayashi H, Hasegawa Y, Yamaguchi S, Shigematsu Y, Takayanagi M, Ohura T, Tsuchiya S.
- Journal Title
  
  Brain Dev. 32(5)
  
  Pages: 409-411
- NAID
  10027491517
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Effect of heat stress and bezafibrate on mitochondrial β-oxidation : Comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay2010
- Author(s)
  Li H, Yamaguchi S (7/7), et al
- Journal Title
  
  Brain Dev
  
  Volume: 32 Issue: 5 Pages: 362-370
- DOI
  10.1016/j.braindev.2009.06.001
- NAID
  10027491314
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-22659195, KAKENHI-PROJECT-22790983
[Journal Article] Heat Stress Deteriorates Mitochondrial β-Oxidation of Long-chain Fatty Acids in Cultured Fibroblasts with Fatty Acid β-Oxidation Disorders2010
- Author(s)
  Li H, Yamaguchi S (7/7), et al
- Journal Title
  
  J Chromatogr B
  
  Volume: 878 Issue: 20 Pages: 1669-1672
- DOI
  10.1016/j.jchromb.2010.01.046
- NAID
  10028037801
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390208, KAKENHI-PROJECT-22659195
[Journal Article] タンデムマス導入による新生児マススクリーニングの新時代タンデムマスによる新生児スクリーニングに対するin vitro probe acylcarnitine profiling assayによる脂肪酸β酸化能評価の有用性に関する検討2010
- Author(s)
  小林弘典, 李紅, プレブスレン・ジャミヤン, 虫本雄一, 長谷川有紀, 山口清次
- Journal Title
  
  日本先天代謝異常学会雑誌 26(1)
  
  Pages: 50-54
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] 新生児拡大マススクリーニングタンデムマス法2010
- Author(s)
  小林弘典
- Journal Title
  
  小児科臨床 63(10)
  
  Pages: 2063-2069
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.2009
- Author(s)
  Purevsuren J, Fukao T, Hasegawa Y, Kobayashi H, Li H, Mushimoto Y, Fukuda S, Yamaguchi S.
- Journal Title
  
  Mol Genet Metab. 98(4)
  
  Pages: 372-377
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] 中鎖アシルCoA脱水素酵素欠損症日本人5症例の発症形態の検討2009
- Author(s)
  虫本雄一, 小林弘典, 長谷川有紀, 李紅, 福田誠司, 近藤陽一, 脇口宏, 藤枝幹也, 高杉尚志, 山口結, 吉良龍太郎, 原寿郎, 山口清次
- Journal Title
  
  日本小児科学会雑誌 113(1)
  
  Pages: 1800-1804
- NAID
  10026276839
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] ESI-MS/MSと培養細胞を用いたin vitro probe acylcarnitine profiling assayによる脂肪酸β酸化能の評価2009
- Author(s)
  小林弘典、虫本雄一、山口清次
- Journal Title
  
  JSBMS letters 34巻
  
  Pages: 21-26
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS).2009
- Author(s)
  Mushimoto Y, Hasegawa Y, Kobayashi H, Li H, Purevsuren J, Nakamura I, Taketani T, Fukuda S, Yamaguchi S.
- Journal Title
  
  J Chromatogr B. 877(25)
  
  Pages: 2648-2651
- NAID
  10028022580
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Journal Article] 経過中血液ろ紙分析でカットオフ値を下回った極長鎖アシル-CoA脱水素酵素欠損症の2例血清分析の必要性2009
- Author(s)
  虫本雄一, 小林弘典, 長谷川有紀, 坂本修, 大浦敏博, 山口清次
- Journal Title
  
  日本マス・スクリーニング学会誌 19(3)
  
  Pages: 255-259
- NAID
  10026395084
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] VLCAD欠損症患者の遺伝子型はタンデムマス・スクリーニング導入前後で変化している2019
- Author(s)
  小林弘典、大澤好充、原圭一、山田健治、長谷川有紀、相﨑潤子、重松陽介、但馬剛、山口清次、竹谷健
- Organizer
  第46回日本マススクリーニング学会
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] ガイドラインからみた脂肪酸代謝異常症2017
- Author(s)
  小林弘典
- Organizer
  第120回　日本小児科学会
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] 患者登録コホート体制の現状と今後の課題2017
- Author(s)
  小林弘典
- Organizer
  第44回日本マススクリーニング学会
- Invited
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] Diversity of organic acidemias and fatty acid oxidation defects in Asian Countries2017
- Author(s)
  Shibata N, Hasegawa Y, Kobayashi H, Yamada K, Fukuda S, Taketani T, Yamaguchi S
- Organizer
  The 1st Taiwan Korea Japan Joint congress on Neonatolohy &27th Annual Meeting of Taiwan Society of Neonatology
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] 先天代謝異常検査への質量分析の応用-尿中有機酸分析と血中アシルカルニチン分析-2017
- Author(s)
  小林弘典
- Organizer
  日本臨床検査自動化学会第31回春季セミナー
- Invited
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] Neurological outcome of adult PKU patients detected by NBS in JAPAN2017
- Author(s)
  Yamada K, Aoki K, Yokoyama K, Kobayashi H, Hasegawa Y, Tajima G, Shintaku H, Taketani T, Yamaguchi S
- Organizer
  10th ISNS-ASIA PACIFIC REGIONAL MEETING 2017
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] 陰イオンモードによるオロト酸測定を加えたタンデムマスによる新生児スクリーニング対象疾患の拡大2017
- Author(s)
  小林弘典
- Organizer
  第42回日本医用マススペクトル学会年会
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] 脂肪酸代謝異常症患者に対するカルニチン投与の実態に関する横断的調査2016
- Author(s)
  小林弘典, 山田健治, 坊亮輔, 長谷川有紀, 山口清次, 竹谷健, 深尾敏幸
- Organizer
  第58回日本先天代謝異常学会
- Place of Presentation
  東京
- Year and Date
  2016-10-27
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] Clinical and genetic aspects of 50 Japanese cases of VLCAD deficiency2016
- Author(s)
  Yamaguchi S, Hasegawa Y, Furui M, Yamada K, Bo R, Kobayashi H, Taketani T, Fukuda S, Fukao T, Nishino I
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2016
- Place of Presentation
  Roma, Italy
- Year and Date
  2016-09-06
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] Diversity of disease distribution and genetic background of inherited metabolic disease of organic and fatty acids in Asian countries2016
- Author(s)
  Yamaguchi S, Hasegawa Y, Shibata N, Kobayashi H, Yamada K, Bo R, Taketani T, Chi DV, Thu NN
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  Kyoto, Japan
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] LC-MS/MS による血清中アシルカルニチンの定量分析の新規非誘導体化法の開発及び既存簡易測定法との比較検討2016
- Author(s)
  小林弘典，山田健治，坊亮輔，長谷川有紀，山口清次，大山直子，竹内一博，城下友義，井手野晃
- Organizer
  第41回日本医用マススペクトル学会年会
- Place of Presentation
  名古屋
- Year and Date
  2016-09-15
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] The effect of riboflavin is limited in Japanese patients with multiple acyl-CoA dehydrogenase deficiency (MADD)2016
- Author(s)
  Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S
- Organizer
  Society for the Study of Inborn Errors of Metabolism Annual Symposium 2016
- Place of Presentation
  Roma, Italy
- Year and Date
  2016-09-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09969
[Presentation] ピボキシル基を含む抗菌薬内服後の二次性カルニチン欠乏症22例の検討2014
- Author(s)
  小林弘典、山田健治、高橋知男、長谷川有紀、山口清次
- Organizer
  117回日本小児科学会学術集会
- Place of Presentation
  名古屋国際会議場（名古屋市）
- Data Source
  KAKENHI-PROJECT-25461552
[Presentation] Acylcarnitine analysis by ESI-MS/MS with smaller amount of sample and rapid analytical time2012
- Author(s)
  Kobayashi H, Mushimoto Y, Hasegawa Y, Yamada K, Purevsuren J, Takahashi T, Minohata T, Iida J, Yamaguchi S
- Organizer
  19th International Mass Spectrometry Conference
- Place of Presentation
  Kyoto International Conference Center, Japan
- Data Source
  KAKENHI-PROJECT-23791176
[Presentation] 新生児発症型グルタル酸尿症 2 型男児例に対する Bezafibrate 治療の経験2012
- Author(s)
  小林弘典, 和田泰格, 鈴木絵理, 山田健治, 高橋知男, プレブスレンジャミヤン, 長谷川有紀, 長谷川行洋, 山口清次
- Organizer
  第54回日本先天代謝異常学会
- Place of Presentation
  (岐阜市)じゅうろくプラザ
- Data Source
  KAKENHI-PROJECT-23791176
[Presentation] ピボキシル基を含む抗菌薬によりカルニチン欠乏症をきたした 24 例の臨床像2012
- Author(s)
  小林弘典, 高橋知男, 山田健治, 長谷川有紀, 山口清次
- Organizer
  第64回中国四国小児科学会
- Place of Presentation
  (香川)香川大学
- Data Source
  KAKENHI-PROJECT-23791176
[Presentation] Beneficial effect of bezafibrate on boy with the late-onset gluraric aciduria type 22012
- Author(s)
  Kobayashi H, Yamada K, Prevsuren J, Mushimoto Y, Takahashi T, Hasegawa Y,Ito M, Yamaguchi S
- Organizer
  The 2nd Asian Congress for Inherited Metabolic Diseases & The 12th Asian-European Workshop on Inborn Errors of Metabolism & The 12th Korean Congress of Inherited Metabolic Disease
- Place of Presentation
  Seoul, Korea
- Data Source
  KAKENHI-PROJECT-23791176
[Presentation] セレウス菌食中毒による急性脳症はミトコンドリアβ酸化障害を介して起こる2012
- Author(s)
  山口清次, Prevsuren J, 小林弘典, 長谷川有紀
- Organizer
  第54回日本小児神経学会
- Place of Presentation
  (札幌)ロイトン札幌
- Data Source
  KAKENHI-PROJECT-23791176
[Presentation] 新生児発症型グルタル酸尿症 2 型に対するベザフィブラートの有効性の検討: In vitro probe acylcarnitine assay の結果との関連性2012
- Author(s)
  山田健治 , 小林弘典 , Jamiyan Purevsuren, 高橋知男, 長谷川有紀, 山口清次
- Organizer
  第37回日本医用マススペクトル学会年会
- Place of Presentation
  (名古屋)愛知県産業労働センター
- Data Source
  KAKENHI-PROJECT-23791176
[Presentation] Application of in-vitro probe acylcarnitine assay using tandem mass spectrometry for the evaluation of mitochondrial fatty acid oxidation2012
- Author(s)
  Prevsuren J, Kobayashi H, Hasegawa Y, Yamada K, Takahashi T, Yamaguchi S
- Organizer
  19th International Mass Spectrometry Conference
- Place of Presentation
  Kyoto International Conference Center, Japan
- Data Source
  KAKENHI-PROJECT-23791176
[Presentation] A hypolipidemic drug, bezafibrate, can be a new treatment option for mitochondrial fatty acid oxidation disorders2011
- Author(s)
  Yamaguchi S, Li H, Purevsuren J, Mushimoto Y, Kobayashi H, Hasegawa Y, Fukao T, Fukuda S
- Organizer
  The 7th Congress of Asian Society for Pediatric Research
- Place of Presentation
  Colorado Convention Center(Denver, USA)
- Year and Date
  2011-04-30
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Emetic toxin of bacillus cereus that associates with reye-like syndrome severely inhibits mitochondrial fatty acid oxidation2011
- Author(s)
  Purevsuren J, Hasegawa Y, Kobayashi H, Mushimoto Y, Yamada K, Okamoto A, Ohta M, Yamaguchi S
- Organizer
  Annual Symposium of the Society for the Study of Inborn Errors of Matabolism
- Place of Presentation
  International Conference Center Geneva, Switzerland
- Data Source
  KAKENHI-PROJECT-23791176
[Presentation] グルタル酸尿症2型に対するベザフィブラートの効果: in vitro probe assayによる評価2011
- Author(s)
  山田健治, 小林弘典, 虫本雄一, プレブスレンジャミヤン, 長谷川有紀, 山口清次
- Organizer
  第53回日本先天性代謝異常学会.千葉
- Place of Presentation
  ホテルニューオータニ幕張(千葉市)
- Year and Date
  2011-11-25
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Emetic toxin of bacillus cereus that associates with reye-like syndrome severely inhibits mitochondrial fatty acid oxidation2011
- Author(s)
  Purevsuren J, Hasegawa Y, Kobayashi H, Mushimoto Y, Yamada K, Okamoto A, Ohta M, Yamaguchi S
- Organizer
  Annual Symposium of the Society for the Study of Inborn Errors of Matabolism
- Place of Presentation
  Geneva, Switzerland
- Data Source
  KAKENHI-PROJECT-23791176
[Presentation] ベザフィブラートが有効であった遅発型グルタル酸尿症2型の男児例2011
- Author(s)
  小林弘典, 山田健治, プレブスレンジャミヤン, 虫本雄一, 高橋知男, 長谷川有紀, 伊藤道徳, 山口清次
- Organizer
  第53回日本先天性代謝異常学会
- Place of Presentation
  ホテルニューオータニ幕張(千葉市)
- Year and Date
  2011-11-26
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Emetic toxin of bacillus cereus that associates with reye-like syndrome severely inhibits mitochondrial fatty acid oxidation2011
- Author(s)
  Purevsuren J, Hasegawa Y, Kobayashi H, Mushimoto Y, Yamada K, Okamoto A, Ohta M, Yamaguchi S
- Organizer
  Annual Symposium of the Society for the Study of Inborn Errors of Matabolism. International Conference Center
- Place of Presentation
  Geneva, Switzerland
- Year and Date
  2011-08-31
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Toxic effect of cereulide of bacillus cereus on mitochondrial fatty acid oxidation.2010
- Author(s)
  Purevsuren J, Hasegawa Y, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S.
- Organizer
  第52回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪市
- Year and Date
  2010-10-22
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] Effect of heat stress and bezafibrate on mitochondrial fatty acid oxidation(FAO) in FAO disorders : evaluation by in vitro probe acylycarnitine assay Society for the study of inborn errors of metabolism2010
- Author(s)
  Yamaguchi S, Li H, Purevsuren J, Mushimoto Y, Kobayashi H, Hasegawa Y, Fukuda S
- Organizer
  The Istanbul Convention and Exhibition Center
- Place of Presentation
  Istanbul, Turkey
- Year and Date
  2010-08-31
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] ミトコンドリア三頭酵素欠損症に対するベサフィブレートの効果に関するIn vitro probe assayでの検討2010
- Author(s)
  小林弘典,プレブスレンジャミセン, 李紅, 虫本雄一, 長谷川有紀, 山口清次
- Organizer
  第52回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪市
- Year and Date
  2010-10-22
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] インフルエンザ脳症と代謝異常症の関連について2010
- Author(s)
  内田由里, 長谷川有紀, 虫本雄一, 高橋知男, 小林弘典, 山口清次
- Organizer
  第85回山陰小児科学会
- Place of Presentation
  松江テルサ、松江市
- Year and Date
  2010-04-04
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Developed diagnostic method for carnitine cycle disorders using in vitro acylacrnitine probe assay2010
- Author(s)
  Jamiyan Purevsuren, Hironori Kobayashi, Yuki Hasegawa, Hong Li, Yuichi Mushimoto, Seiji Yamaguchi
- Organizer
  The 1^<st> Asian Congress for Inherited Metabolism
- Place of Presentation
  福岡国際会議場(福岡市)
- Year and Date
  2010-03-10
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] 末梢リンパ球とタンデム質量分析を用いた簡便な脂肪酸代謝異常症の酵素活性評価2010
- Author(s)
  虫本雄一, 小林弘典, 長谷川有紀, 李紅, プレブスレンジャミヤン, 山口清次
- Organizer
  第113回日本小児科学会
- Place of Presentation
  盛岡市民文化ホール、盛岡市
- Year and Date
  2010-04-23
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Effect of heat stress and bezafibrate on mitochondrial fatty acid oxidation (FAO) in FAO disorders : evaluation by in vitro probe acylycarnitine assay2010
- Author(s)
  Yamaguchi S, Li H, Purevsuren J, Mushimoto Y, Kobayashi H, Hasegawa Y, Fukuda S
- Organizer
  Society for the study of inborn errors of metabolism
- Place of Presentation
  The Istanbul Convention and Exhibition Center, Istanbul, Turkey
- Year and Date
  2010-08-31
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] タンデムマスによる新生児スクリーニングのデータ解釈と臨床的意義2010
- Author(s)
  小林弘典
- Organizer
  平成22年度先天性代謝異常・内分泌疾患マス・スクリーニング基礎理論研修会(招待講演)
- Place of Presentation
  国立成育医療研究センター、東京
- Year and Date
  2010-10-30
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] タンデムマスによる新生児スクリーニングのデータ解釈と臨床的意義2010
- Author(s)
  小林弘典
- Organizer
  平成22年度先天性代謝異常・内分泌疾患マス・スクリーニング基礎理論研修会
- Place of Presentation
  国立成育医療研究センター、東京(招待講演)
- Year and Date
  2010-10-30
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] 末梢リンパ球とタンデム質量分析を用いた簡便な脂肪酸代謝異常症の酵素活性評価2010
- Author(s)
  虫本雄一, 小林弘典, 長谷川有紀, 李紅, プレブスレンジャミヤン, 山口清次
- Organizer
  第113回日本小児科学会
- Place of Presentation
  盛岡市民文化ホール(盛岡市)
- Year and Date
  2010-04-23
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] Development of a diagnostic method of systemic carnitine deficiency by in vitro probe acylcarnitine assay using tandem mass spectrometry and fibroblasts.2010
- Author(s)
  Purevsuren J, Kobayashi H, Hasegawa Y, Li H, Mushimoto Y, Yamaguchi S.
- Organizer
  The 1st Asian Congress for Inherited Metabolism.
- Place of Presentation
  福岡国際会議場,福岡
- Year and Date
  2010-03-10
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] Toxic effect of cereulide of bacillus cereus on mitochondrial fatty acid oxidation2010
- Author(s)
  Purevsuren J, Hasegawa Y, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S
- Organizer
  第52回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪市
- Year and Date
  2010-10-22
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] Effect of heat stress and bezafibrate on mitochondrial fatty acid oxidation (FAO) in FAO disorders: evaluation by in vitro probe acylycarnitine assay.2010
- Author(s)
  Yamaguchi S, Li H, Purevsuren J, Mushimoto Y, Kobayashi H, Hasegawa Y, Fukuda S.
- Organizer
  Society for the study of inborn errors of metabolism.
- Place of Presentation
  The Istanbul Convention and Exhibition Center, Istanbul, Turkey
- Year and Date
  2010-08-31
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] 自治体主導のタンデムマス・スクリーニング:島根県での試み2010
- Author(s)
  小林弘典, 虫本雄一, 長谷川有紀, 他
- Place of Presentation
  横浜市
- Year and Date
  2010-08-29
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] 自治体主導のタンデムマス・スクリーニング:島根県での試み2010
- Author(s)
  小林弘典, 虫本雄一, 長谷川有紀, 他
- Organizer
  第37回日本マス・スクリーニング学会
- Place of Presentation
  ワークピア横浜、横浜市
- Year and Date
  2010-08-29
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] インフルエンザ脳症と代謝異常症の関連について2010
- Author(s)
  内田由里, 長谷川有紀, 虫本雄一, 高橋知男, 小林弘典, 山口清次
- Organizer
  第85回山陰小児科学会
- Place of Presentation
  松江テルサ(松江市)
- Year and Date
  2010-04-04
- Data Source
  KAKENHI-PROJECT-22659195
[Presentation] ミトコンドリア三頭酵素欠損症に対するベサフィブレートの効果に関するInvitro probe assayでの検討2010
- Author(s)
  小林弘典, プレブスレンジャミヤン, 李紅, 虫本雄一, 長谷川有紀, 山口清次
- Organizer
  第52回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場、大阪市
- Year and Date
  2010-10-22
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] Development of a diagnostic method of systemic carnitine deficiency by in vitro probe acylcarnitine assay using tandem mass spectrometry and fibroblasts2009
- Author(s)
  Hironori Kobayashi, Jamiyan Purevsuren, Yuki Hasegawa, Seiji Yamaguchi
- Organizer
  11^<th> International Congress of Inborn Errors of Metabolism
- Place of Presentation
  Manchester Grand Hyatt Hotel, San Diego, CA, USA
- Year and Date
  2009-08-31
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] In vitro probe assayによる脂肪酸代謝異常症の代謝能評価2009
- Author(s)
  小林弘典, 虫本雄一, 長谷川有紀、Purevusren Jamiyan, 李紅, 山口清次
- Organizer
  第51回日本先天代謝異常学会総会・第8回アジア先天代謝異常症シンポジウム
- Place of Presentation
  京王プラザホテル, 東京
- Year and Date
  2009-11-07
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] In vitro probe assayによる脂肪酸代謝異常症の代謝能評価2009
- Author(s)
  小林弘典, 虫本雄一, 長谷川有紀、Purevusren Jamiyan, 李紅, 山口清次
- Organizer
  第51回日本先天代謝異常学会総会・第8回アジア先天代謝異常症シンポジウム
- Place of Presentation
  京王プラザホテル(東京都)
- Year and Date
  2009-11-07
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] Development of a diagnostic method of systemic carnitine deficiency by in vitro probe acylcarnitine assay using tandem mass spectrometry and fibroblasts. of Metabolism.2009
- Author(s)
  Kobayashi K, Purevsure J, Hasegawa Y, Yamaguchi S.
- Organizer
  11^<th> International Congress of Inborn Errors
- Place of Presentation
  Manchester Grand Hyatt Hotel, San Diego, CA, USA
- Year and Date
  2009-08-31
- Data Source
  KAKENHI-PROJECT-21790990
[Presentation] ピボキシル基を含む抗菌薬内服後の二次性カルニチン欠乏症22例の検討
- Author(s)
  小林弘典, 山田健治, 高橋知男, 長谷川有紀, 山口清次
- Organizer
  第117回日本小児科学会
- Place of Presentation
  名古屋
- Year and Date
  2014-04-11 – 2014-04-13
- Data Source
  KAKENHI-PROJECT-25461552
[Presentation] L-カルニチン内服によるアシルカルニチンプロファイルの変化
- Author(s)
  山田健治, 高橋知男, 小林弘典, 坊亮輔, 長谷川有紀, 山口清次
- Organizer
  第41回日本マス・スクリーニング学会
- Place of Presentation
  広島
- Year and Date
  2014-08-22 – 2014-08-23
- Data Source
  KAKENHI-PROJECT-25461552
[Presentation] 黄疸を契機に診断に至った全身性カルニチン欠乏症の一例
- Author(s)
  李知子, 鶴田悟, 山田健治, 小林弘典, 長谷川有紀, 山口清次, 飯島一誠, 竹島泰弘
- Organizer
  第56回日本先天代謝異常学会
- Place of Presentation
  仙台
- Year and Date
  2014-11-13 – 2014-11-15
- Data Source
  KAKENHI-PROJECT-25461552

1. YAMAGUCHI Seiji (60144044)

# of Collaborated Projects: 1 results

# of Collaborated Products: 17 results
2. HASEGAWA Yuki (00362921)

# of Collaborated Projects: 1 results

# of Collaborated Products: 12 results
3. MUSHIMOTO Yuichi (90467712)

# of Collaborated Projects: 1 results

# of Collaborated Products: 12 results
4. 金崎啓造 (60589919)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 外山雄大 (60880507)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 矢本琢真 (60931227)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 川北恵美 (70835884)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 槇野裕文 (90896052)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. PUREVSUREN Jamiyan

# of Collaborated Projects: 1 results

# of Collaborated Products: 5 results
10. YAMADA Kenji

# of Collaborated Projects: 0 results

# of Collaborated Products: 4 results
11. 宮明寿光

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Kobayashi Hironori 小林 弘典

小林 弘典 コバヤシ ヒロノリ

KOBAYASHI Hironori 小林 弘典

Research Projects

Research Products

Co-Researchers

サルコペニア合併糖尿病性腎臓病における負のスパイラルを標的とした治療戦略の開発

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Establishment and operation of a method for evaluating enzyme activity in VLCAD and MCADPrincipal Investigator

Principal Investigator

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Review Section

Research Institution

Establishment of diagnostic methods for adult-onset fatty acid metabolism disorders and elucidation of their clinical featuresPrincipal Investigator

Principal Investigator

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Research Institution

A study on clinical features and pathophysiology of drug-induced carnitine deficiencyPrincipal Investigator

Principal Investigator

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A study of Reye-like syndrome associated with emetic toxin of bacillus cereusPrincipal Investigator

Principal Investigator

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Development of evaluation method of drug safety for children using cultured cells and tandem mass spectrometry

Principal Investigator

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A study on the diagnosis and pathophysiology of carnitine deficiencyPrincipal Investigator

Principal Investigator

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[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)

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DOI

Data Source

[Journal Article] Blood carnitine profiling on tandem mass spectrometry in liver cirrhotic patients2020

Author(s)

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DOI

NAID

Data Source

[Journal Article] Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening2020

Author(s)

Journal Title

DOI

NAID

Data Source

[Journal Article] Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report2019

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis2019

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DOI

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[Journal Article] Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby2019

Author(s)

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Kobayashi Hironori 小林弘典

小林弘典コバヤシヒロノリ

KOBAYASHI Hironori 小林弘典