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Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki, Ken; Kido, Jun; Yoshida, Shinichiro; Sugawara, Keishin; Miyamoto, Tatsuki; Inoue, Takahito; Okumiya, Toshika; Matsumoto, Shirou; Endo, Fumio; Hirose, Shinichi; Nakamura, Kimitoshi.
Afiliación
  • Momosaki K; Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
  • Kido J; Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan. kidojun@kuh.kumamoto-u.ac.jp.
  • Yoshida S; Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
  • Sugawara K; KM Biologics Co., Ltd, Kumamoto, Japan.
  • Miyamoto T; Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
  • Inoue T; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
  • Okumiya T; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
  • Matsumoto S; Department of Pediatrics, Fukuoka University Nishijin Hospital, Fukuoka, Japan.
  • Endo F; Department of Biomedical Laboratory Sciences, Faculty of Health Sciences, Kumamoto University, Kumamoto, Japan.
  • Hirose S; Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
  • Nakamura K; Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
J Hum Genet ; 64(8): 741-755, 2019 Aug.
Article en En | MEDLINE | ID: mdl-31076647
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Pueblo Asiatico / Alfa-Glucosidasas / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans / Newborn País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Pueblo Asiatico / Alfa-Glucosidasas / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans / Newborn País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Japón