Session information

Oral Presentation

代謝性疾患

[JO-22] Oral Presentation 22

Fri. Jun 3, 2022 2:20 PM - 3:20 PM Room 8 (Medium Conference Room 302)

Chair: YASUSHI ITO(Research Department of Pediatric and Maternal Health, Aiiku Research Institute, AMCHC),Megumi Tsuji(Kanagawa Children's Medical Center)

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[JO-112] A case of GLUT1 deficiency assessed by flow cytometry

Keizo Wakae (自治医科大学附属病院小児科)

[JO-113] Gene therapy for glucose transporter—1 deficiency syndrome

Hitoshi Osaka (1. 自治医科大学小児科学、2. 自治医科大学脳神経外科学、3. 自治医科大学先端医療技術開発センター、4. 自治医科大学神経遺伝子治療)

[JO-114] A study on under—recognized non—epileptic seizures in Glut1 deficiency syndrome

Yasushi Ito (1. 東京女子医科大学小児科、2. 母子愛育会総合母子保健センター愛育研究所小児及び母性保健研究部、3. TMG朝霞医療センターてんかんセンター)

[JO-115] Successful treatment with intrathecal antibiotics against Ommaya reservoir infection for CLN2

Shotaro Morikawa (神奈川県立こども医療センター神経内科)

[JO-116] A case of nonketotic hyperglycinemia with increased serum glycine levels during ACTH therapy

Shizuka Nishimoto (大阪母子医療センター小児神経科)

[JO-117] A case of non—ketotic hyperglycinemia treated with ketogenic diet and peranpanel

Yu Abe (鶴岡市立荘内病院小児科)

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