Results 141 to 150 of about 24,432 (224)

Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England. [PDF]

, 1991
Linda Tyfield, M. Osborn, J. B. Holton
openalex   +1 more source

P029: The effects of the pharmacological chaperone sepiapterin on phenylalanine hydroxylase activity of common variants in phenylketonuria*

, 2023
Søren W. Gersting, Madalena Barroso, Stefanie Etzold, Neil Smith   +3 more
openalex   +1 more source

Phenylalanine hydroxylase (PAH) [PDF]

Science-Business eXchange, 2008
openaire   +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

DNAJC12 stabilizes activated phenylalanine hydroxylase and reduces the concentration of L-Phe needed for activation [PDF]

Mary Dayne S. Tai, Trond-André Kråkenes, Gloria Gamiz-Arco, Christer F. Didriksen, Juha P. Kallio, Marte I. Flydal, Fernando Moro, Aurora Martı́nez   +7 more
openalex   +1 more source

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients [PDF]

, 2017
Tianwen Zhu, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Xuefan Gu   +6 more
openalex   +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

The Stimulation of Rat Liver Phenylalanine Hydroxylase by Phospholipids

, 1972
Daniel B. Fisher, Seymour Kaufman
openalex   +1 more source