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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Detalles Bibliográficos
Autores principales: Li, Niu, Chang, Guoying, Xu, Yufei, Ding, Yu, Li, Guoqiang, Yu, Tingting, Qing, Yanrong, Li, Juan, Shen, Yiping, Wang, Jian, Wang, Xiumin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412439/
https://www.ncbi.nlm.nih.gov/pubmed/28420223
http://dx.doi.org/10.3390/ijms18040857

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412439/
https://www.ncbi.nlm.nih.gov/pubmed/28420223
http://dx.doi.org/10.3390/ijms18040857

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