2022年8月25日 · Galactosemia is an inherited metabolic disorder that makes your body unable to process a sugar called galactose. Galactosemia can be a problem for newborns because …

2000年2月4日 · Galactosemia caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT) may be divided into three clinical/biochemical phenotypes: (1) …

Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), …

Pharmacological chaperones (PC) (small molecules which correct the folding of misfolded proteins) represent an exciting potential therapy for galactosemia. In theory, they would …

Galactosemia is an inborn error of carbohydrate metabolism caused by a severe impairment of any of the enzymes involved in the Leloir pathway and comprises four subtypes. Type 1, also …

2022年7月11日 · Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of …

Galactosemia (GAL) (McKusick 230400) caused by deficiency of galactose-1-phosphate uridyltransferase (GALT: EC 2.7.712) is associated with an impaired ability to metabolize …

Galactosemia is an autosomal-recessive metabolic disorder characterized by abnormal galactose metabolism. Three different genes encode proteins involved in galactose metabolism: …

2018年10月19日 · In type II galactosemia, loss of GALK1 activity prevents the formation of galactose 1-phosphate and results, instead, in a buildup of d-galactose. This may be (partly) …

Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if …