Yazar "Abuhandan, Mahmut" için listeleme
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Novel Fructose-1,6-bisphosphatase Gene Mutation in Two Siblings
Eren, Erdal; Edgünlü, Tuba; Abuhandan, Mahmut; Yetkin, İlhan (Mary Ann Liebert, Inc, 2013)Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal, recessively inherited disease that progresses with severe hypoglycemia, and metabolic attacks result in a defect in gluconeogenesis. If not appropriately ...