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

• Autori principali: Zufit Hexner-Erlichman (Autore), Maria Veiga- (Autore), Yoav Zehavi (Autore), Zahava Vadasz (Autore), Adi D. Sabag (Autore), Sameh Tatour (Autore), Ronen Spiegel (Autore)
• Natura: Libro
• Pubblicazione: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...