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    • Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in SLC2A2 Gene 

      Celikboya, Ezgi; Akinci, Nurver; YEŞİL, GÖZDE; Zubarioglu, Tanyel; Cansever, Mehmet Serif (2019-09-01)
      Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually ...