David A Edwards,Bengt Norden,Lorie Karnath et al. David A Edwards et al.

Cary O Harding Cary O Harding

Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency is among the most common inborn errors of metabolism. Dietary therapy begun early in infancy prevents the major manifestations of the disease but ...