Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency
Abstract
Fructose-1,6-bisphosphatase deficiency (FBPase deficiency) is a rare inborn error of metabolism that affects gluconeogenesis. Ketotic hypoglycemia is the main symptom and can occur at any age, usually after long periods of fasting or during illness. The diagnosis may be achieved by measurement of the enzyme activity in a liver sample, but FBP1 analysis has become the most common approach. To characterize the genotype of Southern Brazilian...
Paper Details
Title
Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency
Published Date
May 1, 2019
Journal
Volume
699
Pages
102 - 109
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