A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome) The first case in Japan.

DOI Web Site Web Site PubMed 被引用文献1件
  • AKAMATSU Koichi
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • SAKAUE Hiroshi
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • TADA Koji
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • MIZUKAMI Yuji
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • YAMAGUCHI Shuji
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • TANAKA Akira
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • OHTA Yasuyuki
    The Third Department of Internal Medicine, Ehime University School of Medicine

書誌事項

タイトル別名
  • Case Report of Abetalipoproteinemia Bas
  • The First Case in Japan

この論文をさがす

抄録

The clinical and pathophysiological features of a case of abetalipoproteinemia in a 34-year-old patient are described. This patient is the first case reported in Japan. The patient was diagnosed as abetalipoproteinemia by confirming the Apo-B deficiency in the patient's serum and the slightly high cholesterol level in his mother's and borderline normal level in his father's. The patient had remarkably low lipid levels, acanthocytosis, and lipid malabsorption. Anunusual feature of this case was that the patient had no neuromuscular or ocular manifestations. This was possibly related to his normal plasma vitamin A and E levels.

収録刊行物

被引用文献 (1)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ