Results for
""Phenylalanine""[mesh_terms]

PKU dietary handbook to accompany PKU guidelines.

A MacDonald, A M J van Wegberg, K Ahring, S Beblo, A Bélanger-Quintana, A Burlina, J Campistol, T Coşkun, F Feillet, M Giżewska, S C Huijbregts, V Leuzzi, F Maillot, A C Muntau, J C Rocha, C Romani, F Trefz, F J van Spronsen

Orphanet journal of rare diseases 2021;15(1):171

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Heidi Erlandsen, Nenad Blau

Molecular genetics and metabolism 2005;82(2):101-11

Alchemical Design of Pharmacological Chaperones with Higher Affinity for Phenylalanine Hydroxylase.

María Conde-Giménez, Juan José Galano-Frutos, María Galiana-Cameo, Alejandro Mahía, Bruno L Victor, Sandra Salillas, Adrián Velázquez-Campoy, Rui M M Brito, José Antonio Gálvez, María D Díaz-de-Villegas, Javier Sancho

International journal of molecular sciences 2022;23(9):4502

Phenylalanine 4-monooxygenase: the "sulfoxidation polymorphism".

Stephen C Mitchell, Glyn B Steventon

Xenobiotica; the fate of foreign compounds in biological systems 2020;50(1):51-63

Carriers of autosomal recessive conditions: are they really 'unaffected?'.

Amber Hames, Sophia Khan, Clara Gilliland, Lucy Goldman, Hillary Wh Lo, Kevin Magda, Justine Keathley

Journal of medical genetics 2023;61(1):1-7

Next-generation probiotics as a therapeutic strategy for the treatment of phenylketonuria: a review.

Josemar Gonçalves de Oliveira Filho, Adriana Sousa E Silva Carvalho, Jordana Dos Santos Alves, Mariana Buranelo Egea

Nutrition reviews 2022;80(10):2100-2112

Italian national consensus statement on management and pharmacological treatment of phenylketonuria.

Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, Vincenzo Leuzzi

Orphanet journal of rare diseases 2022;16(1):476

Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria.

Robyn R Heister, Sophia M Khan, Justine R Keathley

Lifestyle genomics 2024;17(1):102-112

Systems Biology and Inborn Error of Metabolism: Analytical Strategy in Investigating Different Biochemical/Genetic Parameters.

Cristiano Ialongo, Mariano Bizzarri, Aurora Piombarolo, Antonio Angeloni

Methods in molecular biology (Clifton, N.J.) 2023;2745():191-210

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.

Alberto Burlina, Nenad Blau, Amaya Bélanger-Quintana, François Feillet, Anita MacDonald, Francjan J van Spronsen, Ania C Muntau, Maria Gizewska, Friedrich Trefz, Maureen Cleary, Christoph Gasteyger, Esther Bettiol

Molecular genetics and metabolism 2014;110(4):418-23

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.

Ania C Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch

Orphanet journal of rare diseases 2021;16(1):341

Plant Phenylalanine/Tyrosine Ammonia-lyases.

Jaime Barros, Richard A Dixon

Trends in plant science 2020;25(1):66-79

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

A Bélanger-Quintana, T Coşkun, S C Huijbregts, C Romani, A Burlina, A M J van Wegberg, N Blau, J Campistol, F Feillet, V Leuzzi, F Trefz, F Maillot, J C Rocha, K Ahring, A C Muntau, M Giżewska, A M Bosch, F J van Spronsen, A MacDonald, S Beblo

Molecular genetics and metabolism 2025;145(2):109125

An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.

Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Hina Ayesha

Critical reviews in eukaryotic gene expression 2019;28(2):177-185