The First Report of Japanese Patients with Asparagine Synthetase Deficiency

Takahiro Yamamoto,Wakaba Endo,Hidenori Ohnishi,Kazuo Kubota,Norio Kawamoto,Takehiko Inui,Atsushi Imamura,Jun-ichi Takanashi,Masaaki Shiina,Hirotomo Saitsu,Kazuhiro Ogata,Naomichi Matsumoto,Kazuhiro Haginoya,Toshiyuki Fukao

Brain and Development（2016）

引用 25|浏览32

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Asparagine synthetase deficiency,Non-essential amino acid metabolic disorder,Microcephaly,Cerebral atrophy,Developmental delay,Intractable seizures

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