Results 161 to 170 of about 38,679 (221)

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

Primapterinuria: A Clinical Update [PDF]

, 2017
Blaskovics, M. E., Blau, N., Giudici, T. A.   +2 more
core  

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

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

Identification of the Allosteric Site for Phenylalanine in Rat Phenylalanine Hydroxylase. [PDF]

J Biol Chem, 2016
Zhang S, Fitzpatrick PF.
europepmc   +1 more source

Biophysical characterization of full-length human phenylalanine hydroxylase provides a deeper understanding of its quaternary structure equilibrium. [PDF]

J Biol Chem, 2019
Arturo EC, Gupta K, Hansen MR, Borne E, Jaffe EK.   +4 more
europepmc   +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

Simulations of the regulatory ACT domain of human phenylalanine hydroxylase (PAH) unveil its mechanism of phenylalanine binding. [PDF]

J Biol Chem, 2018
Ge Y, Borne E, Stewart S, Hansen MR, Arturo EC, Jaffe EK, Voelz VA.   +6 more
europepmc   +1 more source

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. [PDF]

Hum Mutat, 2018
Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R, ClinGen Inborn Errors of Metabolism Working Group.   +23 more
europepmc   +1 more source