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...

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Detalles Bibliográficos
Autores principales: Sakuma, Ikki, Yao, Yue, Fujimoto, Masanori, Nagano, Hidekazu, Yokote, Koutaro, Tanaka, Tomoaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Diabetes Mellitus and Glucose Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551122/
http://dx.doi.org/10.1210/js.2019-MON-188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551122/
http://dx.doi.org/10.1210/js.2019-MON-188

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