Article
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.
International journal of molecular sciences - 18 Apr 2017
Li Niu, Chang Guoying, Xu Yufei, Ding Yu, Li Guoqiang, Yu Tingting, Qing Yanrong, Li Juan, Shen Yiping, Wang Jian, Wang Xiumin
Abstract excerpt
Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, autosomal recessive inherited disease caused by the mutation of the FBP1 gene, the incidence is estimated to be between 1/350,000 and 1/900,000. The symptoms of affected individuals are non-specific and are easily confused with other metabolic disorders. The present study describes the clinical features of four Chinese pediatric patients who presented...
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