Results 201 to 210 of about 152,932 (290)

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

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

, 1997
Emre Kayaalp, Eileen P. Treacy, Paula J. Waters, Susan Byck, Piotr Nowacki, Charles R. Scriver   +5 more
openalex   +1 more source

Modeled ligand‐protein complexes elucidate the origin of substrate specificity and provide insight into catalytic mechanisms of phenylalanine hydroxylase and tyrosine hydroxylase [PDF]

, 2003
Astrid Maaß, Joachim Scholz, Andréas Moser   +2 more
openalex   +1 more source

An additional substrate binding site in a bacterial phenylalanine hydroxylase

European Biophysics Journal, 2013
J. Ronau, Lake N Paul, Julian E. Fuchs, Isaac R. Corn, K. T. Wagner, K. Liedl, M. Abu‐Omar, C. Das   +7 more
semanticscholar   +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

A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics.

Archives of Biochemistry and Biophysics, 2013
E. Jaffe, Linda Stith, Sarah H. Lawrence, M. Andrake, Roland L. Dunbrack   +4 more
semanticscholar   +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

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