Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic...

from classic galactosemia in that patients with Duarte galactosemia have partial GALT deficiency whereas patients with classic galactosemia have complete...

Galactose-1-phosphate uridylyltransferase deficiency (classic galactosemia) is the most common type of galactosemia, an inborn error of galactose metabolism, caused...

classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not...

There are two forms of Galactosemia: classic and Duarte. Duarte galactosemia is generally less severe than classic galactosemia and is caused by a deficiency...

galactosemic cataract is cataract which is associated with the consequences of galactosemia. The presence of presenile cataract, noticeable in galactosemic infants...

progress in understanding, diagnosing and treating the congenital disease galactosemia. Leloir is buried in La Recoleta Cemetery, Buenos Aires. Leloir's parents...

disorder is inherited as an autosomal recessive trait. Unlike classic galactosemia, which is caused by a deficiency of galactose-1-phosphate uridyltransferase...

first go through one of these processes in order to utilize the sugar. Galactosemia is an inability to properly break down galactose due to a genetically...

damage the ovaries, leading to POI. Women who have inherited classic galactosemia (galactose intolerance) may develop primary ovarian insufficiency. The...