Cargando…
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...
| Autores principales: | , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2017
|
| Materias: | |
| 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 |