JSCN2022

Presentation information

Platform Session

[EO-06] Platform Session 06:Mitochondrial Diseases

Fri. Jun 3, 2022 8:20 AM - 9:00 AM Room 6 (Medium Conference Room 202)

Chair: Prasad Asuri N.(Department of Pediatrics Faculty of Medicine Weste),Akira Ohtake(Saitama Medical University)

[EO-030] Leigh syndrome—like MRI lesions in a case with biallelic HPDL variants treated with ketogenic diet

Yurika Numata—Uematsu1,Mitsugu Uematsu1,Toshiyuki Yamamoto2,Hirotomo Saitsu3,Yu Katata1,Yoshitsugu Oikawa1,Naoya Saijyou1,Takehiko Inui4,Kei Murayama5,Akira Ohtake6,7,Hitoshi Osaka8,Jun—Ichi Takanashi9,Shigeo Kure1,Ken Inoue10 (1. Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan,2. Institute of Medical Genetics, Tokyo Women's Medical University,3. Department of Biochemistry, Hamamatsu University School of Medicine,4. Department of Pediatric Neurology, Miyagi Children's Hospital,5. Department of Metabolism, Chiba Children's Hospital,6. Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University,7. Center for Intractable Diseases, Saitama Medical University Hospital,8. Department of Pediatrics, Jichi Medical University,9. Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center,10. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry)

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