Citations (26)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (1)
Penelope D. Manta-Vogli, Yannis Dotsikas, Yannis L. Loukas & Kleopatra H. Schulpis. (2020) The phenylketonuria patient: A recent dietetic therapeutic approach. Nutritional Neuroscience 23:8, pages 628-639.
Read now
Read now
Articles from other publishers (25)
Valentina Rovelli & Nicola Longo. (2023) Phenylketonuria and the brain. Molecular Genetics and Metabolism 139:1, pages 107583.
Crossref
Crossref
Dasa Perko, Urh Groselj, Vanja Cuk, Ziga Iztok Remec, Mojca Zerjav Tansek, Ana Drole Torkar, Blaz Krhin, Ajda Bicek, Adrijana Oblak, Tadej Battelino & Barbka Repic Lampret. (2023) Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria. International Journal of Molecular Sciences 24:3, pages 2487.
Crossref
Crossref
Barbara K. Burton, Álvaro Hermida, Amaya Bélanger-Quintana, Heather Bell, Kendra J. Bjoraker, Shawn E. Christ, Mitzie L. Grant, Cary O. Harding, Stephan C.J. Huijbregts, Nicola Longo, Markey C. McNuttIIII, Mina D. Nguyen-Driver, André L. Santos Pessoa, Júlio César Rocha, Stephanie Sacharow, Amarilis Sanchez-Valle, H. Serap Sivri, Jerry Vockley, Mark Walterfang, Sarah Whittle & Ania C. Muntau. (2022) Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. Molecular Genetics and Metabolism 137:1-2, pages 114-126.
Crossref
Crossref
Allysa M. Dijkstra, Ninke van Vliet, Danique van Vliet, Cristina Romani, Stephan C.J. Huijbregts, Els van der Goot, Iris B. Hovens, Eddy A. van der Zee, Ido P. Kema, M. Rebecca Heiner-Fokkema & Francjan J. van Spronsen. (2021) Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse. Molecular Genetics and Metabolism 134:3, pages 250-256.
Crossref
Crossref
AMJ van Wegberg, RAF Evers, JGM Burgerhof, E van Dam, M.R. Heiner-Fokkema, MCH Janssen, MC de Vries & FJ van Spronsen. (2021) Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria. Molecular Genetics and Metabolism 133:1, pages 49-55.
Crossref
Crossref
Willem G. van Ginkel, Iris L. Rodenburg, Cary O. Harding, Carla E. M. Hollak, M. Rebecca Heiner-Fokkema & Francjan J. van Spronsen. (2019) Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1. Pediatric Drugs 21:6, pages 413-426.
Crossref
Crossref
Marie Canton, Didier Le Gall, François Feillet, Chrystele Bonnemains & Arnaud Roy. (2019) Neuropsychological Profile of Children with Early and Continuously Treated Phenylketonuria: Systematic Review and Future Approaches. Journal of the International Neuropsychological Society 25:6, pages 624-643.
Crossref
Crossref
Hardo Lilleväli, Karit Reinson, Kai Muru, Siret Saarsalu, Kadi Künnapas, Tiina Kahre, Ülle Murumets & Katrin Õunap. (2019) The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records. Molecular Genetics and Metabolism Reports 19, pages 100467.
Crossref
Crossref
Denise Leonne Hofman, Claire Louise Champ, Clare Louise Lawton, Mick Henderson & Louise Dye. (2018) A systematic review of cognitive functioning in early treated adults with phenylketonuria. Orphanet Journal of Rare Diseases 13:1.
Crossref
Crossref
A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn, F. Trefz, J. H. Walter & F. J. van Spronsen. (2017) The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet Journal of Rare Diseases 12:1.
Crossref
Crossref
A Pinto, M F Almeida, P C Ramos, S Rocha, A Guimas, R Ribeiro, E Martins, A Bandeira, A MacDonald & J C Rocha. (2017) Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source. European Journal of Clinical Nutrition 71:10, pages 1230-1234.
Crossref
Crossref
Francjan J van Spronsen, Annemiek MJ van Wegberg, Kirsten Ahring, Amaya Bélanger-Quintana, Nenad Blau, Annet M Bosch, Alberto Burlina, Jaime Campistol, Francois Feillet, Maria Giżewska, Stephan C Huijbregts, Shauna Kearney, Vincenzo Leuzzi, Francois Maillot, Ania C Muntau, Fritz K Trefz, Margreet van Rijn, John H Walter & Anita MacDonald. (2017) Key European guidelines for the diagnosis and management of patients with phenylketonuria. The Lancet Diabetes & Endocrinology 5:9, pages 743-756.
Crossref
Crossref
Yanting Song, Katsuya Takatsuki, Tetsushi Sekiguchi, Takashi Funatsu, Shuichi Shoji & Makoto Tsunoda. (2016) Rapid quantitative method for the detection of phenylalanine and tyrosine in human plasma using pillar array columns and gradient elution. Amino Acids 48:7, pages 1731-1735.
Crossref
Crossref
Rani H. Singh, Amy C. Cunningham, Shideh Mofidi, Teresa D. Douglas, Dianne M. Frazier, Debra Geary Hook, Laura Jeffers, Helen McCune, Kathryn D. Moseley, Beth Ogata, Surekha Pendyal, Jill Skrabal, Patricia L. Splett, Adrya Stembridge, Ann Wessel & Frances Rohr. (2016) Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach. Molecular Genetics and Metabolism 118:2, pages 72-83.
Crossref
Crossref
Jun Han, Carol Parker & Christoph BorchersDonald H Chace, Gary Valaskovic, Mike Lee, Reese Clark & Alan R Spitzer. 2015. Advanced LC-MS Applications in Metabolomics. Advanced LC-MS Applications in Metabolomics
22
39
.
Urh Groselj, Simona Murko, Mojca Zerjav Tansek, Jernej Kovac, Alenka Trampus Bakija, Barbka Repic Lampret & Tadej Battelino. (2015) Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring—Implications for clinical management of patients with hyperphenylalaninemia. Clinical Biochemistry 48:1-2, pages 14-18.
Crossref
Crossref
Kathryn M. Camp, Melissa A. Parisi, Phyllis B. Acosta, Gerard T. Berry, Deborah A. Bilder, Nenad Blau, Olaf A. Bodamer, Jeffrey P. Brosco, Christine S. Brown, Alberto B. Burlina, Barbara K. Burton, Christine S. Chang, Paul M. Coates, Amy C. Cunningham, Steven F. Dobrowolski, John H. Ferguson, Thomas D. Franklin, Dianne M. Frazier, Dorothy K. Grange, Carol L. Greene, Stephen C. Groft, Cary O. Harding, R. Rodney Howell, Kathleen L. Huntington, Henrietta D. Hyatt-Knorr, Indira P. Jevaji, Harvey L. Levy, Uta Lichter-Konecki, Mary Lou Lindegren, Michele A. Lloyd-Puryear, Kimberlee Matalon, Anita MacDonald, Melissa L. McPheeters, John J. Mitchell, Shideh Mofidi, Kathryn D. Moseley, Christine M. Mueller, Andrew E. Mulberg, Lata S. Nerurkar, Beth N. Ogata, Anne R. Pariser, Suyash Prasad, Gabriella Pridjian, Sonja A. Rasmussen, Uma M. Reddy, Frances J. Rohr, Rani H. Singh, Sandra M. Sirrs, Stephanie E. Stremer, Danilo A. Tagle, Susan M. Thompson, Tiina K. Urv, Jeanine R. Utz, Francjan van Spronsen, Jerry Vockley, Susan E. Waisbren, Linda S. Weglicki, Desirée A. White, Chester B. Whitley, Benjamin S. Wilfond, Steven Yannicelli & Justin M. Young. (2014) Phenylketonuria Scientific Review Conference: State of the science and future research needs. Molecular Genetics and Metabolism 112:2, pages 87-122.
Crossref
Crossref
Rianne Jahja, Stephan C.J. Huijbregts, Leo M.J. de Sonneville, Jaap J. van der Meere & Francjan J. van Spronsen. (2014) Neurocognitive Evidence for Revision of Treatment Targets and Guidelines for Phenylketonuria. The Journal of Pediatrics 164:4, pages 895-899.e2.
Crossref
Crossref
Michèle Carlier & Pierre L. Roubertoux. 2014. Behavior Genetics of Cognition Across the Lifespan. Behavior Genetics of Cognition Across the Lifespan
69
101
.
Shawn E. Christ, Amanda J. Moffitt, Dawn Peck, Desirée A. White & Joseph Hilgard. (2012) Decreased functional brain connectivity in individuals with early-treated phenylketonuria: evidence from resting state fMRI. Journal of Inherited Metabolic Disease 35:5, pages 807-816.
Crossref
Crossref
Rachael Sharman, Karen Sullivan, Ross McD Young & Jim McGill. (2012) Depressive symptoms in adolescents with early and continuously treated phenylketonuria: Associations with phenylalanine and tyrosine levels. Gene 504:2, pages 288-291.
Crossref
Crossref
Francjan J. van Spronsen. (2011) Mild hyperphenylalaninemia: to treat or not to treat. Journal of Inherited Metabolic Disease 34:3, pages 651-656.
Crossref
Crossref
M. Demirkol, M. Giżewska, M. Giovannini & J. Walter. (2011) Follow up of phenylketonuria patients. Molecular Genetics and Metabolism 104, pages S31-S39.
Crossref
Crossref
Rachael Sharman, Karen A. Sullivan, Ross McD. Young & James J. McGill. (2010) Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey. Journal of Inherited Metabolic Disease 33:S3, pages 417-420.
Crossref
Crossref
Barbara K. Burton, Álvaro Hermida, Amaya Bélanger-Quintana, Heather Bell, Kendra J. Bjoraker, Shawn E. Christ, Mitzie L. Grant, Cary O. Harding, Stephan C.J. Huijbregts, Nicola Longo, Markey C. McNutt, Mina D. Nguyen-Driver, André L. Santos Pessoa, Júlio César Rocha, Stephanie Sacharow, Amarilis Sanchez-Valle, H. Serap Sivri, Jerry Vockley, Mark Walterfang, Sarah Whittle & Ania C. Muntau. (2022) Management of Early Treated Adolescents and Young Adults with Phenylketonuria: Development of International Consensus Recommendations Using a Modified Delphi Approach. SSRN Electronic Journal.
Crossref
Crossref