Results 151 to 160 of about 39,051 (241)

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

Pyropheophytin a accompanies pheophytin a in darkened light grown cells of Euglena [PDF]

, 1981
Rüdiger, W., Scheer, Hugo, Schiff, J. A., Schoch, S., Siegelmann, H. W.   +4 more
core  

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

Constancy of Expression of the Protein Kinase A Regulatory Subunit Rla in Hepatoma Cell Lines of Different Phenotypes [PDF]

, 1994
Boshart, Michael, Faust, Daniela M., Schütz, Günther, Weiss, Mary C.   +3 more
core  

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

Bioenergetics of protein transport into mitochondria [PDF]

, 1988
Döhren, H. von, Jaenicke, L., Kleinkauf, Horst, Neupert, Walter, Pfanner, Nikolaus   +4 more
core  

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