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

Knowledge of the impact of variations on protein structure can enhance the comprehension
of the mechanisms of genetic diseases related to that protein. Here, we present a new …

Abstract Galactose‐1‐phosphate uridylyltransferase (GALT) is a key enzyme in galactose
metabolism, particularly important in the neonatal period due to ingestion of galactose …

Purpose As exome and genome sequencing using high-throughput sequencing
technologies move rapidly into the diagnostic process, laboratories and clinicians need to …

Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase
(GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia …

Classic and clinical variant galactosemia (CG/CVG) are allelic, autosomal recessive
disorders that result from deficiency of galactose-1-P uridylyltransferase (GALT). CG/CVG …

Patients with galactosemia who carry the S135L (c. 404C> T) variant of galactose‐1‐P
uridylyltransferase (GALT), documented to encode low‐level residual GALT activity, have …

In recent years, antisense therapy has emerged as an increasingly important therapeutic
approach to tackle several genetic disorders, including inborn errors of metabolism. Intronic …

Background Classical galactosemia is an autosomal recessive inherited metabolic disorder
caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT …

Background: Classic galactosemia is an autosomal recessive disorder of galactose
metabolism caused by severely decreased activity of galactose-1-phosphate …