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

• المؤلفون الرئيسيون: Zufit Hexner-Erlichman (مؤلف), Maria Veiga- (مؤلف), Yoav Zehavi (مؤلف), Zahava Vadasz (مؤلف), Adi D. Sabag (مؤلف), Sameh Tatour (مؤلف), Ronen Spiegel (مؤلف)
• التنسيق: كتاب
• منشور في: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...