Infantile sialic acid storage disease (ISSD) : Report of the first case detected in Poland

• TYLKI-SZYMANSKA ANNA

  Department of Metabolic Diseases, The Children's Memorial Health Institute

• CZARTORYSKA BARBARA

  Department of Genetics, Institute of Psychiatry and Neurology

• LUGOWSKA AGNIESZKA

  Department of Genetics, Institute of Psychiatry and Neurology

• VERHEIJEN FRANS W

  Department of Clinical Genetics, Erasmus University

• MANCINI GRAZIA M S

  Department of Clinical Genetics, Erasmus University

• ROKICKI DARIUSZ

  Department of Metabolic Diseases, The Children's Memorial Health Institute

• TAYBERT JOANNA

  Department of Metabolic Diseases, The Children's Memorial Health Institute

• CHMIELINSKA ELZBIETA

  Department of Genetics, The Children's Memorial Health Institute

収録刊行物

• Pediatrics international : official journal of the Japan Pediatric Society

  Pediatrics international : official journal of the Japan Pediatric Society 45 (2), 199-200, 2003-04-01

キーワード

• infantile sialic acid storage disease
• sialic acid
• lysosomal membrane defect

詳細情報

• CRID: 1571135649930861440
• NII論文ID: 10011917227
• NII書誌ID: AA11320483
• ISSN: 13288067
• 本文言語コード: en
• データソース種別:
  • CiNii Articles