Glucose-galactose malabsorption (GGM) is a rare inherited metabolic disorder that prevents the body from absorbing two simple sugars: glucose and galactose. Glucose-galactose malabsorption (GGM) is a ...
Purpose: UDP-galactose-4-epimerase (GALE) deficiency galactosemia is an autosomal recessive disorder and the prevalence of the disease varies among ethnic groups. We aimed to investigate molecular ...
We describe a 55-year-old man with the cardiac variant of Fabry's disease who had residual α-galactosidase A activity as the result of a missense mutation encoding a substitution of arginine for ...
This Commentary explores some of the implications of the recent discovery of a novel form of galactosemia. 1 This disease has been recognized since 1908. During the twentieth century, the molecular ...
Glucose-galactose malabsorption (GGM) is a rare metabolic condition. It occurs when a genetic variation makes the body unable to properly absorb the simple sugars glucose and galactose. Sugars are the ...
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