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

• Hauptverfasser: Zufit Hexner-Erlichman (Verfasst von), Maria Veiga- (Verfasst von), Yoav Zehavi (Verfasst von), Zahava Vadasz (Verfasst von), Adi D. Sabag (Verfasst von), Sameh Tatour (Verfasst von), Ronen Spiegel (Verfasst von)
• Format: Buch
• Veröffentlicht: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Schlagworte: article
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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...