Results 151 to 160 of about 104,062 (224)

Spectrum of <i>PAH</i> gene variants in Jordanian patients with phenylalanine hydroxylase deficiency. [PDF]

Biomed Rep
Fathallah R, Al-Rashed K, Arafat A, Awwad H, Maraqa L, El-Khateeb M, Shboul M.   +6 more
europepmc   +1 more source

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study. [PDF]

JIMD Rep
Yuskiv N, Saad A, Potter BK, Stockler-Ipsiroglu S, Mitchell JJ, Hawken S, Tingley K, Pugliese M, Lamoureux M, Chow AJ, Kronick JB, Wilson K, Feigenbaum A, Goobie S, Inbar-Feigenberg M, Little J, Mercimek-Andrews S, Pender A, Prasad C, Schulze A, Trakadis Y, Ho G, Vallance H, Austin V, Vandersteen A, Yu AC, Rockman-Greenberg C, Mhanni AA, Chakraborty P.   +28 more
europepmc   +1 more source

Engineered phenylalanine hydroxylase coupled with an effective cofactor synthesis and regeneration system for high-yield production of 5-hydroxytryptophan. [PDF]

Bioresour Bioprocess
Ai Y, Huang Y, Zhao H, Su B, Lin J.
europepmc   +1 more source

Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. [PDF]

Mol Genet Metab
Christ SE, Arnold G, Lichter-Konecki U, Berry GT, Grange DK, Harding CO, Jurecki E, Levy H, Longo N, Morotti H, Sacharow S, Thomas J, White DA.   +12 more
europepmc   +1 more source

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study. [PDF]

J Inherit Metab Dis
Feillet F, Arnoux JB, Delgado MB, Burlina A, Chabrol B, Kucuksayrac E, Lagler FB, Muntau AC, Olsson D, Paci S, Rutsch F, van Spronsen FJ, KAMPER investigators.   +12 more
europepmc   +1 more source

Acetylation of Phenylalanine Hydroxylase and Tryptophan 2,3-Dioxygenase Alters Hepatic Aromatic Amino Acid Metabolism in Weaned Piglets. [PDF]

Metabolites, 2020
Huang L, Yao W, Wang T, Li J, He Q, Huang F.   +5 more
europepmc   +1 more source

Phenylalanine hydroxylase (PAH) [PDF]

Science-Business eXchange, 2008
openaire   +1 more source

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect. [PDF]

Mol Genet Metab Rep
Upadia J, Crivelly K, Noh G, Cunningham A, Cerminaro C, Li Y, Mckoin M, Chenevert M, Andersson HC.   +8 more
europepmc   +1 more source

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant

Chinese Medical Journal, 2015
Jun Ye, Wen-Juan Qiu, Lian-Shu Han, Hui-Wen Zhang, Xue-Fan Gu   +4 more
doaj   +1 more source

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase. [PDF]

Genes (Basel), 2019
Pecimonova M, Kluckova D, Csicsay F, Reblova K, Krahulec J, Procházkova D, Skultety L, Kadasi L, Soltysova A.   +8 more
europepmc   +1 more source