Nabatame Shin 青天目信

Researcher Number	30570072
Other IDs
Affiliation (Current)	2025: 大阪大学, 大学院医学系研究科, 講師
Affiliation (based on the past Project Information) *help	2022 – 2023: 大阪大学, 大学院医学系研究科, 講師 2018 – 2021: 大阪大学, 医学系研究科, 講師 2016 – 2017: 大阪大学, 医学系研究科, 助教 2015: 大阪大学, 医学(系)研究科(研究院), 助教
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics
Keywords	Principal Investigator 先天代謝異常 / グルコーストランスポーター１欠損症 / ケトン体 / ケトン食療法 / フローサイトメトリー / GLUT1欠損症 / 自然歴研究 / 回帰分析 / 移行期医療 / 食事療法 / 神経科学 / 小児神経学 … More Except Principal Investigator … More 活性化葉酸 / 先天性GPIアンカー欠損症 / てんかん / 先天性GPI欠損症 / 活性型葉酸 / 知的障碍 / 先天性 / 高ALP血症 / 知的障害 / ピリドキシン Less

グルコーストランスポーター１欠損症における新規診断法の確立と簡便な食事療法の開発Principal Investigator
- Principal Investigator
  
  青天目信
- Project Period (FY)
  2019 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Osaka University
Folic acid for Inherited GPI deficiency
- Principal Investigator
  
  TOMINAGA Koji
- Project Period (FY)
  2018 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Osaka University
Devlopment of diagnostic marker and new treatment for inherited glycosylphosphatidylinositol anchored protein deficiency
- Principal Investigator
  
  KOJI TOMINAGA
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University
Development of new diagnostic and therapy for glucose transporter 1 deficiency syndromePrincipal Investigator
- Principal Investigator
  
  Nabatame Shin
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University

All 2023 2022 2021 2020 2019 2018 2017 2016 2015

All Journal Article Presentation

[Journal Article] Associations of severity with biochemical parameters in glucose transporter 1 deficiency syndrome.2023
- Author(s)
  Nabatame S, Tanigawa J, Tominaga K, Kagitani-Shimono K, Yanagihara K, Imai K, Ando T, Tsuyusaki Y, Araya N, Matsufuji M, Natsume J, Yuge K, Bratkovic D, Arai H, Okinaga T, Matsushige T, Azuma Y, Ishihara N, Miyatake S, Kato M, Matsumoto N, Okamoto N, Takahashi S, Hattori S, Ozono K
- Journal Title
  
  J Neurol Sci
  
  Volume: 447 Pages: 120597-120597
- DOI
  10.1016/j.jns.2023.120597
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07908, KAKENHI-PROJECT-22K15952, KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-23K27520
[Journal Article] Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy2022
- Author(s)
  Kishimoto K, Nabatame S, Kagitani-Shimono K, Kato M, Tohyama J, Nakashima M, Matsumoto N, Ozono K.
- Journal Title
  
  Epileptic Disorder
  
  Volume: 24 Issue: 4 Pages: 726-728
- DOI
  10.1684/epd.2022.1441
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-20K08236
[Journal Article] Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant.2021
- Author(s)
  Kubota T, Nabatame S, Sato R, Hama M, Nishiike U, Mochizuki H, Takahashi MP, Takeshima T.
- Journal Title
  
  Brain Dev
  
  Volume: 43 Issue: 9 Pages: 952-957
- DOI
  10.1016/j.braindev.2021.05.011
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08322
[Journal Article] Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan.2021
- Author(s)
  Takeguchi R, Takahashi S, Akaba Y, Tanaka R, Nabatame S, Kurosawa K, Matsuishi T, Itoh M.
- Journal Title
  
  J Neurol Sci
  
  Volume: 422 Pages: 117321-117321
- DOI
  10.1016/j.jns.2021.117321
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-18K07893
[Journal Article] High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency2021
- Author(s)
  Tanigawa J, Nabatame S, Tominaga K, Nishimura Y, Maegaki Y, Kinosita T, Murakami Y, Ozono K
- Journal Title
  
  Brain & Development
  
  Volume: 43 Issue: 6 Pages: 680-687
- DOI
  10.1016/j.braindev.2021.02.007
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07820, KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-19K17359
[Journal Article] Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1.2020
- Author(s)
  Kobayashi S, Tanigawa J, Kondo H, Nabatame S, Maruoka A, Sho H, Tanikawa K, Inui R, Otsuki M, Shimomura I, Ozono K, Hashimoto K
- Journal Title
  
  J Endocr Soc
  
  Volume: 4 Issue: 5
- DOI
  10.1210/jendso/bvaa041
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08322
[Journal Article] Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome.2020
- Author(s)
  Natsume J, Ishihara N, Azuma Y, Nakata T, Takeuchi T, Tanaka M, Sakaguchi Y, Okai Y, Ito Y, Yamamoto H, Ohno A, Kidokoro H, Hattori A, Nabatame S, Kato K.
- Journal Title
  
  Brain Dev
  
  Volume: 43 Issue: 1 Pages: 69-67
- DOI
  10.1016/j.braindev.2020.07.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08322
[Journal Article] グルコーストランスポーター１欠損症2019
- Author(s)
  青天目信
- Journal Title
  
  日本医師会雑誌　指定難病ペディア2019
  
  Volume: 148
- Data Source
  KAKENHI-PROJECT-19K08322
[Journal Article] Analysis of craniofacial character of glucose transporter type 1 deficiency syndrome2019
- Author(s)
  Itoh S, Kurosaka H, Murata Y, Morita C, Kagitani-Shimono K, Nabatame S, Ozono K, Yamashiro T.
- Journal Title
  
  Orthodont Waves
  
  Volume: 78 Issue: 4 Pages: 151-159
- DOI
  10.1016/j.odw.2019.10.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-19H03858
[Journal Article] Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy2019
- Author(s)
  Takata Atsushi、Nakashima Mitsuko、Saitsu Hirotomo、Osaka Hitoshi、Nakamura Kazuyuki、Takeshita Saoko、Sakai Yasunari、Miyake Noriko、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Nature Communications
  
  Volume: 10 Issue: 1 Pages: 2506-2506
- DOI
  10.1038/s41467-019-10482-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07865
[Journal Article] グルコーストランスポーター１欠損症（GLUT1欠損症）の多数例の検討2019
- Author(s)
  青天目信
- Journal Title
  
  特殊ミルク情報
  
  Volume: 55 Pages: 43-46
- Data Source
  KAKENHI-PROJECT-19K08322
[Journal Article] グルコーストランスポーター１欠損症2018
- Author(s)
  青天目　信
- Journal Title
  
  小児内科
  
  Volume: 50 Pages: 772-773
- Data Source
  KAKENHI-PROJECT-15K09620
[Journal Article] phenotypes from infantile lethality to mild learning difficulties2017
- Author(s)
  Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y
- Journal Title
  
  Human Mutation
  
  Volume: 印刷中 Issue: 7 Pages: 805-815
- DOI
  10.1002/humu.23219
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PUBLICLY-15H01578, KAKENHI-PROJECT-26461543, KAKENHI-PROJECT-26462225, KAKENHI-PROJECT-15K09618, KAKENHI-PROJECT-17K10070, KAKENHI-PROJECT-16K15534
[Journal Article] Ketogenic diet using a Japanese ketogenic milk for patients with epilepsy: A multi-institutional study.2017
- Author(s)
  Kumada T, Imai K, Takahashi Y, Nabatame S, Oguni H.
- Journal Title
  
  Brain & Development
  
  Volume: 40 Issue: 3 Pages: 188-95
- DOI
  10.1016/j.braindev.2017.11.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] ケトン食療法とケトンフォーミュラの課題2023
- Author(s)
  青天目信
- Organizer
  てんかん診療支援コーディネーター研修会
- Invited
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] Cerebrospinal fluid parameters and the severity in glucose transporter 1 deficiency syndrome2023
- Author(s)
  Shin Nabatame, Hikari Nishizawa, Masashi Mukai, Junpei Tanigawa
- Organizer
  第64回日本先天代謝異常学会学術集会
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] Complications of the long-term ketogenic diet using medium-chain triglycerides for patients with glucose transporter-1 deficiency syndrome2023
- Author(s)
  Shin Nabatame
- Organizer
  International Symposium on Triglyceride/Neutral Lipid and Rare Diseases
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] Changes in the electroencephalogram from childhood to adulthood in glucose transporter 1 deficiency syndrome2023
- Author(s)
  Shin Nabatame, Hikari Nishizawa, Masashi Mukai, Junpei Tanigawa, Kuriko Kagitani-Shimono
- Organizer
  第56回日本てんかん学会
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] 薬物抵抗性てんかんにおけるケトン食療法の実際2023
- Author(s)
  青天目信
- Organizer
  第3回ケトン食療法講習会
- Invited
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] Effects of ketogenic diets in adult patients with glucose transporter 1 deficiency syndrome2023
- Author(s)
  Shin Nabatame, Masashi Mukai, Katsuhiko Ogawa, Junpei Tanigawa, Koji Tominaga, Kuriko Shimono-Kagitani, Keiichi Ozono
- Organizer
  第65回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] GLUT-1欠損症治療におけるケトン食の実際2023
- Author(s)
  青天目信
- Organizer
  第1回日本ケトン食療法学会
- Invited
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] 5歳時に食事前後の変化から診断に至ったGlut1欠損症の1例2023
- Author(s)
  青天目信，西澤日花里，向井昌史，谷河純平，下野九理子，宮冬樹，加藤光広
- Organizer
  第19回日本てんかん学会近畿地方会
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] GLUT-1欠損症治療におけるケトン食の実際2023
- Author(s)
  青天目　信
- Organizer
  第1回日本ケトン食療法学会
- Invited
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] Ketogenic diet introduction and modification in an adult patient with Glut1 deficiency syndrome2022
- Author(s)
  Shin Nabatame, Masashi Mukai, Katsuhiro Ogawa, Junpei Tanigawa, Koji Tominaga, Kuriko Shimono-Kagitani, Toshiyuki Mano, Keiichi Ozono
- Organizer
  第64回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] Glucose Transporter 1 Deficiency : Past Experience, Current Status, and Future Challenges2021
- Author(s)
  Shin Nabatame
- Organizer
  The 22nd Annual Meeting of The Infantile Seizure Society
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] 難治てんかんに対するケトン食療法2021
- Author(s)
  青天目信
- Organizer
  第4回中性脂肪学会
- Invited
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] 先天性glycosylphosphatidylinositol(GPI)欠損症に対するピリドキシン大量療法2021
- Author(s)
  谷河純平, 青天目信, 富永康仁, 西村洋子, 前垣義弘, 木下タロウ, 村上良子, 大薗恵一
- Organizer
  日本小児神経学会
- Data Source
  KAKENHI-PROJECT-18K07820
[Presentation] The effect of additional antiepileptic drugs for epilepsy in glucose transporter 1 deficiency syndrome.2020
- Author(s)
  Shin Nabatame, Morimasa Shima, Rie Nakai, Ryoko Kuwayama, Junpei Tanigawa, Koji Tominaga, Kuriko Kagitani-Shimono, Keiichi Ozono
- Organizer
  6th Congress of the European Academy of Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] 長期間の高脂質食の継続が必要なGLUT1欠損症の長期経過について2019
- Author(s)
  青天目信
- Organizer
  第3回TG学会
- Invited
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] 先天性GPI欠損症2019
- Author(s)
  青天目信
- Organizer
  日本てんかん学会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07820
[Presentation] Genetic, Biochemical and Clinical Characteristics Correlations in Glucose Transporter 1 Deficiency Syndrome in a Single Center Study.2019
- Author(s)
  Shin NABATAME, Rie NAKAI, Ryoko Hayashi, Junpei TANIGAWA, Koji TOMINAGA, Kuriko KAGITANI-SHIMONO, Keiichi OZONO
- Organizer
  AAN2019, the 71st American Academy of Neurology Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] 先天性GPI欠損症2019
- Author(s)
  青天目信
- Organizer
  第53回日本てんかん学会シンポジウム8「小児期発症のてんかん性脳症up to date」
- Invited
- Data Source
  KAKENHI-PROJECT-19K08322
[Presentation] グルコーストランスポーター１欠損症を含む代謝性てんかんとケトン食療法2018
- Author(s)
  青天目信
- Organizer
  第52回日本てんかん学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] MCTを利用したケトン食療法を長期間施行したGLUT1欠損症の脂質プロフィール2018
- Author(s)
  青天目信，平野賢一
- Organizer
  第3回TG学会
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] The effect of missense mutation sites on the phenotype of glucose transporter-1 deficiency syndrome.2018
- Author(s)
  Shin Nabatame, Hidehito Kondo, Ryoko Hayashi, Mika Hirotsune, Junpei Tanigawa, Yoshiko Iwatani, Koji Tominaga, Kuriko Kagitani-Shimono, Keiichi Ozono
- Organizer
  第60回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] ケトン食療法とGlut1欠損症2018
- Author(s)
  青天目信
- Organizer
  第28回福岡てんかん研究会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] Glut1欠損症の臨床的特徴と治療2018
- Author(s)
  青天目信
- Organizer
  第8回神戸大学てんかん臨床研究会講演会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] The effect of missense mutation sites on the phenotype of glucose transporter-1 deficiency syndrome.2018
- Author(s)
  Shin Nabatame, Hidehito Kondo, Ryoko Hayashi, Mika Hirotsune, Junpei Tanigawa, Yoshiko Iwatani, Kouji Tominaga, Kuriko Kagitani-Shimono, Keiichi Ozono
- Organizer
  第60回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] グルコーストランスポーター1欠損症を含む代謝性てんかんとケトン食療法2018
- Author(s)
  青天目信
- Organizer
  第52回日本てんかん学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] The Ratio of Cerebrospinal Fluid Glucose / Blood Glucose is Correlated with the Severity of Glucose Transporter 1 Deficiency Syndrome2017
- Author(s)
  Shin NABATAME, Tomoyo YAMASHITA, Mika HIROTSUNE, Akito WATANABE, Junpei TANIGAWA, Yoshiko IWATANI, Koji TOMINAGA, Kuriko KAGITANI-SHIMONO, Keiichi OZONO
- Organizer
  14th Asian and Oceanian Congress of Child Neurology
- Place of Presentation
  Fukuoka, Japan
- Year and Date
  2017-05-11
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] 持続する高ALP血症を契機に診断された先天性GPI欠損症の一男児例2017
- Author(s)
  橋本泰佑　宮下恵実子　山本浩継　吉川真紀子　徳永康行　谷河純平　富永康仁　青天目信　岡本伸彦　茶山公祐
- Organizer
  第30回近畿小児科学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-15K09618
[Presentation] Adult cases of glucose transporter 1 deficiency syndrome2017
- Author(s)
  Shin Nabatame, Tomoyo Yamashita, Mika Hirotsune, Akito Watanabe, Junpei Tanigawa, Yoshiko Iwatani, Koji Tominaga, Kuriko Kagitani-Shimono, Keiichi Ozono
- Organizer
  第59回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] The Ratio of Cerebrospinal Fluid Glucose / Blood Glucose is Correlated with the Severity of Glucose Transporter 1 Deficiency Syndrome.2017
- Author(s)
  Shin Nabatame, Tomoyo Yamashita, Mika Hirotsune, Akito Watanabe, Junpei Tanigawa, Yoshiko Iwatani, Koji Tominaga, Kuriko Kagitani-Shimono, Keiichi Ozono
- Organizer
  14th Asian and Oceaninan Congress of Child Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] 先天性GPIアンカー欠損症における血清ALP値の検討2017
- Author(s)
  富永康仁　谷河純平　山下朋代　広恒実加　渡辺陽和　岩谷祥子　下野九理子　青天目信　村上良子　木下タロウ　永井利三郎　大薗恵一
- Organizer
  第59回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-15K09618
[Presentation] Adult cases of glucose transporter 1 deficiency syndrome2017
- Author(s)
  Shin Nabatame, Tomoyo Yamashita, Mika Hirotsune, Akito Watanabe, Junpei Tanigawa, Yoshiko Iwatani, Koji Tominaga, Kuriko Kagitani-Shimono, Keiichi Ozono
- Organizer
  第58回日本小児神経学会学術集会
- Place of Presentation
  大阪府大阪市
- Year and Date
  2017-06-15
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] ケトン食療法の有効性：先天代謝異常2017
- Author(s)
  青天目信
- Organizer
  第59回日本小児神経学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] Prognostic factor of seizures in glucose transporter 1 deficiency syndrome2016
- Author(s)
  Shin Nabatame, Akito Watanabe, Kanako Kishimoto, Junpei Tanigawa, Yoshiko Iwatani, Kouji Tominaga, Kuriko Shimono, Keiichi Ozono
- Organizer
  第58回日本小児神経学会学術集会
- Place of Presentation
  東京都新宿区
- Year and Date
  2016-06-03
- Data Source
  KAKENHI-PROJECT-15K09620
[Presentation] Clinical spectrum of PIGO mutations2016
- Author(s)
  谷河純平　村上良子　富永康仁　青天目信　見松はるか　城所博之　早川昌弘　水野誠司　若松延昭　岡本伸彦　夏目淳　木下タロウ　大薗恵一
- Organizer
  第58回日本小児神経学会
- Place of Presentation
  東京
- Year and Date
  2016-06-03
- Data Source
  KAKENHI-PROJECT-15K09618
[Presentation] A causative factor of growth hormone defect in glucose transporter 1 deficiency syndrome.2015
- Author(s)
  Nabatame S, Kagitani-Shimono K, Tominaga K, Kishimoto K, Tanigawa J, Yamazaki S, Iwatani Y, Miyoshi Y, Yanagihara K, Nagai T, Ozono K.
- Organizer
  第57回日本小児神経学会学術集会
- Place of Presentation
  大阪市
- Year and Date
  2015-05-28
- Data Source
  KAKENHI-PROJECT-15K09620

1. KOJI TOMINAGA (20599245)

# of Collaborated Projects: 3 results

# of Collaborated Products: 13 results
2. 岩谷祥子 (60724903)

# of Collaborated Projects: 3 results

# of Collaborated Products: 9 results
3. MURAKAMI YOSHIKO (00304048)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
4. TANIGAWA JUNPEI (40768636)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
5. Shimono Kuriko

# of Collaborated Projects: 1 results

# of Collaborated Products: 8 results
6. Sakai Norio

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. Namba Noriyuki

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 城所博之

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
9. 酒井康成

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 高橋悟

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Nabatame Shin 青天目 信

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グルコーストランスポーター１欠損症における新規診断法の確立と簡便な食事療法の開発Principal Investigator

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Folic acid for Inherited GPI deficiency

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Devlopment of diagnostic marker and new treatment for inherited glycosylphosphatidylinositol anchored protein deficiency

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Development of new diagnostic and therapy for glucose transporter 1 deficiency syndromePrincipal Investigator

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[Journal Article] Associations of severity with biochemical parameters in glucose transporter 1 deficiency syndrome.2023

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[Journal Article] Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy2022

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[Journal Article] Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant.2021

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[Journal Article] Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan.2021

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[Journal Article] High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency2021

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[Journal Article] Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1.2020

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[Journal Article] Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome.2020

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[Journal Article] グルコーストランスポーター１欠損症2019

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[Journal Article] Analysis of craniofacial character of glucose transporter type 1 deficiency syndrome2019

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[Journal Article] Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy2019

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[Journal Article] グルコーストランスポーター１欠損症（GLUT1欠損症）の多数例の検討2019

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Nabatame Shin 青天目信