Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

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 metabol...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Int J Mol Sci
Egile Nagusiak: Li, Niu, Chang, Guoying, Xu, Yufei, Ding, Yu, Li, Guoqiang, Yu, Tingting, Qing, Yanrong, Li, Juan, Shen, Yiping, Wang, Jian, Wang, Xiumin
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2017
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5412439/
https://ncbi.nlm.nih.gov/pubmed/28420223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18040857
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