Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. [PDF]
Chen T+9 more
europepmc +1 more source
Probing the Role of Crystallographically Defined/Predicted Hinge-bending Regions in the Substrate-induced Global Conformational Transition and Catalytic Activation of Human Phenylalanine Hydroxylase by Single-site Mutagenesis [PDF]
Anne Jorunn Stokka+3 more
openalex +1 more source
Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria. [PDF]
Rastegar Moghadam M+4 more
europepmc +1 more source
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
C Zekanowsk+4 more
openalex +2 more sources
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices. [PDF]
Yuskiv N+13 more
europepmc +1 more source
The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability. [PDF]
Khan CA+3 more
europepmc +1 more source
Biophysical characterization of full-length human phenylalanine hydroxylase provides a deeper understanding of its quaternary structure equilibrium. [PDF]
Arturo EC+4 more
europepmc +1 more source
Biochemical and Immunological Characterization of Rat and Human Phenylalanine Hydroxylase
Petruschka L.+3 more
doaj +1 more source