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MON-188 Characterization and Categorization Based on Genotype-Biochemical Phenotype Association in Fructose-1,6-Bisphosphatase Deficiency
Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessive disorder characterized by hypoglycemia and metabolic acidosis. Due to the rarity of FBPase deficiency, elucidating the mechanism by which the mutations cause enzyme activity loss is challenging. We...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrine Society
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551122/ http://dx.doi.org/10.1210/js.2019-MON-188 |