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A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Akamine, Satoshi; Ishizaki, Yoshito; Sakai, Yasunari; Torisu, Hiroyuki; Fukai, Ryoko; Miyake, Noriko; Ohkubo, Kazuhiro; Koga, Hiroshi; Sanefuji, Masafumi; Sakata, Ayumi; Kimura, Masahiko; Yamaguchi, Seiji; Sakamoto, Osamu; Hara, Toshiro; Saitsu, Hirotomo; Matsumoto, Naomichi; Ohga, Shouichi.
Afiliación
  • Akamine S; Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Ishizaki Y; Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Sakai Y; Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: ysakai22q13@gmail.com.
  • Torisu H; Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Section of Pediatrics, Department of Medicine, Fukuoka Dental College, Fukuoka, Japan.
  • Fukai R; Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, Japan.
  • Ohkubo K; Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Koga H; Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Sanefuji M; Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Sakata A; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Kimura M; Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan.
  • Yamaguchi S; Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan.
  • Sakamoto O; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Hara T; Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University School of Medicine, Yokohama, Japan.
  • Ohga S; Departments of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Eur J Med Genet ; 61(8): 451-454, 2018 Aug.
Article en En | MEDLINE | ID: mdl-29510241
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas Serina-Treonina Quinasas / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas Serina-Treonina Quinasas / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article