Purpose Galactosemia is a rare inborn error of galactose metabolism. There are several
forms, the most severe being classic galactosemia (CG), which begins in the first few days of …

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 …

This review rigorously investigates the evolving pharmacological landscape for metabolic
disorders, focusing on Phenylketonuria (PKU), Inflammatory Bowel Disease (IBD) …

Galactosemia is known as an inborn error of metabolism, which is unable to digest
galactose, sugar present in breast milk, which is the main source of nutrients for infants. The …

Рассматриваются результаты проведенного генетического скрининга галактоземии на
болезнь генетического обмена. Приведена структура праймеров, используемых в …