Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1-MedSci.cn

Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1

Sanli, ME; Cengiz, B; Kilic, A; Ozsaydi, E; Inci, A; Okur, I; Tumer, L; Lebigot, E; Ezgu, F

Sanli, ME (通讯作者)，Gazi Univ, Fac Med, Dept Pediat, Div Inborn Errors & Metab, Ankara, Turkey.;Sanli, ME (通讯作者)，Bicetre Hosp, AP HP, Biochem Dept, F-94275 Le Kremlin Bicetre, France.

Abstract

Objectives Fructose 1,6 bisphosphatase (FBPase) deficiency is a rare autosomal recessively inherited metabolic disease. It is encoded by FBP1, and the......

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Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1

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