• Clinical And Molecular Spectrum Of Glucose-6-Phosphate Isomerase Deficiency. Report Of 12 New Cases 

      Fermo, Elisa; Vercellati, Cristina; Marcello, Anna Paola; Zaninoni, Anna; Aytac, Selin; Cetin, Mualla; Capolsini, Ilaria; Casale, Maddalena; Paci, Sabrina; Zanella, Alberto; Barcellini, Wilma; Bianchi, Paola (2019)
      Glucose-6-phosphate isomerase (GPI, EC 5.3.1.9) is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate to fructose-6-phosphate, the second reaction step of glycolysis. GPI deficiency, ...