Results 161 to 170 of about 16,453 (233)

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. [PDF]

Sci Rep, 2018
Chen T, Xu W, Wu D, Han J, Zhu L, Tong F, Yang R, Zhao Z, Jiang P, Shu Q.   +9 more
europepmc   +1 more source

Metabolic engineering as therapy for inborn errors of metabolism – development of mice with phenylalanine hydroxylase expression in muscle

, 1998
CO Harding, Krzysztof Wild, David Chang, Albee Messing, JA Wolff   +4 more
openalex   +1 more source

Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah^enu2 mice [PDF]

, 2003
Cary O. Harding, Mark W. Neff, Kelly A. Jones, Krzysztof Wild, Jon A. Wolff   +4 more
openalex   +1 more source

Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria. [PDF]

Med J Islam Repub Iran, 2018
Rastegar Moghadam M, Shojaei A, Babaei V, Rohani F, Ghazi F.   +4 more
europepmc   +1 more source

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices. [PDF]

Orphanet J Rare Dis, 2019
Yuskiv N, Potter BK, Stockler S, Ueda K, Giezen A, Cheng B, Langley E, Ratko S, Austin V, Chapman M, Chakraborty P, Collet JP, Pender A, Canadian Inherited Metabolic Diseases Research Network (CIMDRN).   +13 more
europepmc   +1 more source

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations [PDF]

, 2004
Heidi Erlandsen, Ángel L. Pey, Alejandra Gámez, Belén Pérez, Lourdes R. Desviat, Cristina Aguado, Richard Koch, Sankar Surendran, Stephen K. Tyring, Reuben Matalon, Charles R. Scriver, Magdalena Ugarte, Aurora Martı́nez, Raymond C. Stevens   +13 more
openalex   +1 more source

Biochemical and Immunological Characterization of Rat and Human Phenylalanine Hydroxylase

Pteridines, 1991
Petruschka L., Rebrin I., Grimm U., Herrmann F. H.   +3 more
doaj   +1 more source

The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability. [PDF]

J Biol Chem, 2019
Khan CA, Meisburger SP, Ando N, Fitzpatrick PF.   +3 more
europepmc   +1 more source

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.

, 2000
C Zekanowsk, Belén Pérez, Lourdes R. Desviat, Wojciech Wiszniewski, Magdalena Ugarte   +4 more
openalex   +2 more sources

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]

, 2004
Anne Jorunn Stokka, R. Carvalho, João Filipe Barroso, Torgeir Flatmark   +3 more
openalex   +1 more source