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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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Sakuma, Ikki, Yao, Yue, Fujimoto, Masanori, Nagano, Hidekazu, Yokote, Koutaro, Tanaka, Tomoaki
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Diabetes Mellitus and Glucose Metabolism
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6551122/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-188
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