Presentation Information
[O8-03]TPK1 Deficiency Successfully Managed by Empirical Vitamin B1 Supplementation Before Genetic Diagnosis
Dai Matsuse1, Yoshiyasu Kono2, Yukiharu Une2,3, Masamune Sakamoto4, Naomichi Matsumoto4, Noriko Isobe1 (1. Department of Neurology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan, 2. Kitakyushu Children's Rehabilitation Center, Kitakyushu, Japan, 3. Une Clinic, Onomichi, Japan, 4. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
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