The N-hydroxycinnamide moiety is identified as critical for potent and tetrahydrobiopterin-competitive inhibition of phenylalanine hydroxylase ... fumarylacetoacetate hydrolase, an enzyme in ...

The most common type of CAH is 21-hydroxylase deficiency 1; for the remainder of this review, CAH indicates CAH due to 21-hydroxylase deficiency. CAH is a disease of multiple hormonal imbalances.

Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and protect maternal and fetal ...