(Last updated : 2022-07-15 13:58:46)
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  Department of Pediatrics
■ Books
1. Chapter contribution  Walker-Warburg syndrome「小児科診療 小児の症候群」 2016/04
2. Chapter contribution  chronic recurrent aspiration「ネルソン小児科学原著第19版」 2015/04
3. Chapter contribution  Glucose transporter type 1 deficiency syndrome「別冊 日本臨牀 新領域別症候群シリーズ No.31」 2014/12
4. Chapter contribution  Colpocephaly「別冊 日本臨牀 新領域別症候群シリーズ No.29」 2014/09
5. Chapter contribution  Glucose transporter type 1 deficiency syndrome「別冊 日本臨牀 新領域別症候群シリーズ No.28」 2014/06
Display all(13)
■ Published papers
1. Original article  New insights into the pathogenesis of spinal muscular atrophy 2011/04
2. Original article  Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan 2015/09
3. Original article  The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome 2020/07
4. Original article  Questionnaire survey on the current status of ketogenic diet therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) in Japan. 2018/05
5. Original article  Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey 2016/08
Display all(26)
■ Academic conference presentation
1. A study on under-recognized non epileptic seizures in Glut1 deficiency syndrome  2022/06/03
2. Establishment of a flow cytometry screening method for glucose transporter 1 deficiency syndrome (Glut1DS)  2022/06/02
3. Clinical outcomes of a 5-year-old boy with hypochondroplasia showing clustered epileptic apneas in the neonatal period  2021/04/18
4. A case of 9p tetrasomy presenting with feeding difficulties due to early satiation  2021/04/16
5. Questionnaire survey on attitude toward gene therapy for glucose transporter 1 deficiency  2020/08/19
Display all(25)
■ Education
1. 2010/11/19
Degree Acquisition
Tokyo Women's Medical University, Link
2. 1987/04~1993/03 Wakayama Medical University, Graduated