Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa

• AOYAMA Yoshiko

  Okinaka Memorial Institute for Medical Research

• ENDO Yoriko

  Okinaka Memorial Institute for Medical Research

• EBARA Tetsu

  Okinaka Memorial Institute for Medical Research

• MURASE Toshio

  Okinaka Memorial Institute for Medical Research

• SHIN Yoon S.

  Molecular Genetics and Metabolism Laboratory

• PODSKARBI Teodor

  Molecular Genetics and Metabolism Laboratory

• OZER Isil

  Department of Pediatric Nutrition and Metabolism, Istanbul Medical Faculty, Istanbul University

• DEMIRKOL Mubeccel

  Department of Pediatric Nutrition and Metabolism, Istanbul Medical Faculty, Istanbul University

• GOKCAY Gulden

  Department of Pediatric Nutrition and Metabolism, Istanbul Medical Faculty, Istanbul University

• OKUBO Minoru

  Okinaka Memorial Institute for Medical Research

収録刊行物

• Pediatrics international : official journal of the Japan Pediatric Society

  Pediatrics international : official journal of the Japan Pediatric Society 52 (1), 145-147, 2010-02-01

キーワード

• AGL
• deletion
• glycogen debranching enzyme
• glycogen storage disease type IIIa
• Turkey

詳細情報

• CRID: 1573950400598316416
• NII論文ID: 10028181453
• NII書誌ID: AA11320483
• ISSN: 13288067
• Web Site: https://search.jamas.or.jp/link/ui/2010293029
• 本文言語コード: en
• データソース種別:
  • CiNii Articles