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 …

Classical galactosaemia (McKusick 230400) is an: autosomal recessive disorder of
galactose metabolism, caused by a deficiency of the enzyme 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 …

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

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

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

Classical galactosemia is an autosomal recessive disorder caused by mutations in the
galactose‐1‐phosphate uridyltransferase (GALT) gene. Our group developed a disease …

Objective. Classical galactosemia (McKusick 230400) is an autosomal recessive disorder of
galactose metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase …

OBJECTIVES: To determine the long-term outcome of dietary intervention in siblings from 14
Irish families with classical galactosemia (McKusick 230400), an autosomal recessive …

Despite many decades of research involving both human subjects and model systems, the
underlying pathophysiology of long-term complications in classic galactosemia (CG) …