Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients

• 主要な著者: Zufit Hexner-Erlichman (著者), Maria Veiga- (著者), Yoav Zehavi (著者), Zahava Vadasz (著者), Adi D. Sabag (著者), Sameh Tatour (著者), Ronen Spiegel (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

BackgroundGlycogen storage disease type 1b (GSD1b) is an ultra-rare autosomal recessive disorder, caused by mutations in SLC37A4 gene. Affected patients present with episodes of fasting hypoglycemia and lactic acidosis, hepatomegaly, growth retardation, hyperlipidemia and renal impairment. In additi...