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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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| Publicado no: | Int J Mol Sci |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2017
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| Assuntos: | |
| Acesso em linha: | 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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