Results 121 to 130 of about 23,946 (202)

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

Biologics: Targets & Therapy, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
doaj  

E3 Ubiquitin Ligase APC/C^Cdh1 Regulation of Phenylalanine Hydroxylase Stability and Function. [PDF]

Int J Mol Sci, 2020
Tyagi A, Sarodaya N, Kaushal K, Chandrasekaran AP, Antao AM, Suresh B, Rhie BH, Kim KS, Ramakrishna S.   +8 more
europepmc   +1 more source

A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency. [PDF]

Mol Genet Metab, 2020
Richards DY, Winn SR, Dudley S, Fedorov L, Rimann N, Thöny B, Harding CO.   +6 more
europepmc   +1 more source

Exploring Subpopulations for Epidemiological Precision Nutrition Research: The Example of <i>Phenylalanine Hydroxylase (PAH)</i> Genetic Variation. [PDF]

Nutrients
Dhawan A, Khan SM, Fennell ML, Cho CE, Monk JM, Keathley JR.   +5 more
europepmc   +1 more source

Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria. [PDF]

EXCLI J
Yang F, Li HF, Tang WJ, Zhu JP, Qiu JG, Cai TE, Yu LM, Yu Y.   +7 more
europepmc   +1 more source

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