Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based
guidelines for the treatment and follow-up of CG are currently lacking, and treatment and …

Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is
metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate …

This fully updated edition of Developmental Neuropsychology: A Clinical Approach
addresses key issues in child neuropsychology with a unique emphasis on evidence …

Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused
by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A …

Classic galactosemia is a rare inherited disorder of galactose metabolism caused by
deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of …

Galactosemia, an inborn error of galactose metabolism, was first described in the 1900s by
von Ruess. The subsequent 100 years has seen considerable progress in understanding …

A deficiency of each of the three enzymes important in galactose metabolism, galactose-1-
phosphate uridyltransferase (GALT), galactokinase (GALK) and UDP-galactose 4 …

Precision medicine is an emerging approach to managing disease by taking into
consideration an individual's genetic and environmental profile toward two avenues to …

Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the
enzymes involved in the metabolism of galactose. The first description of galactosemia in …

Messenger RNA (mRNA) has emerged as a novel therapeutic approach for inborn errors of
metabolism. Classic galactosemia (CG) is an inborn error of galactose metabolism caused …