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 +13 more
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Biochemical and Immunological Characterization of Rat and Human Phenylalanine Hydroxylase
Pteridines, 1991 Petruschka L. +3 more
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The phenylketonuria-associated substitution R68S converts phenylalanine hydroxylase to a constitutively active enzyme but reduces its stability. [PDF]
J Biol Chem, 2019 Khan CA +3 more
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Biophysical characterization of full-length human phenylalanine hydroxylase provides a deeper understanding of its quaternary structure equilibrium. [PDF]
J Biol Chem, 2019 Arturo EC +4 more
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Simulations of the regulatory ACT domain of human phenylalanine hydroxylase (PAH) unveil its mechanism of phenylalanine binding. [PDF]
J Biol Chem, 2018 Ge Y +6 more
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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 +23 more
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Structure of full-length wild-type human phenylalanine hydroxylase by small angle X-ray scattering reveals substrate-induced conformational stability. [PDF]
Sci Rep, 2019 Tomé CS +7 more
europepmc +1 more source
Author Correction: Structure of full-length wild-type human phenylalanine hydroxylase by small angle X-ray scattering reveals substrate-induced conformational stability. [PDF]
Sci Rep, 2019 Tomé CS +7 more
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Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency. [PDF]
JIMD Rep, 2017 Coakley KE +4 more
europepmc +1 more source