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

Classic galactosemia (CG, OMIM# 230400, ORPHA: 79,239) is a hereditary disorder of
galactose metabolism that, despite treatment with galactose restriction, affects brain function …

Long‐term outcomes in classic galactosemia (CG) have been studied previously, but all
prior studies have relied on cohorts of patients that were small in number, or heavily skewed …

Classical galactosemia (CG) is an autosomal recessive disorder of galactose metabolism.
Despite early initiation of a galactose‐restricted diet, patients develop long‐term …

Many inborn errors of metabolism and genetic disorders affect the brain. The brain
biochemistry may differ from that in the periphery and is not accessible by simple blood and …

It remains unresolved whether central nervous system involvement in treated classical
galactosemia (CG) is a progressive neurodegenerative process. This study aimed to …

A deficiency of each of the four enzymes important in galactose metabolism, galactose
mutarotase (GALM), galactose-1-phosphate uridylyltransferase (GALT), galactokinase …

Galactosemias are a group of inborn errors of galactose metabolism that causes different
motor symptoms such as ataxia, tremor, and fine motor dysfunction. The objective was to …

Neurometabolic diseases are rare genetic disorders caused by synthesis disorders affecting
protein, carbohydrate and lipid metabolisms, impaired enzyme activity, and deficiency of …

As we move into the era of personalized therapies for rare diseases, understanding the
history and evolution of newborn screening for neurologic disorders is essential. Over 50 …