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Editorial

Alternative therapies to address the unmet medical needs of patients with phenylketonuria

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Karlie C. Mahan, Mona A. Gandhi & Sridhar Anand. (2019) Pegvaliase: a novel treatment option for adults with phenylketonuria. Current Medical Research and Opinion 35:4, pages 647-651.
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Júlio César Rocha & Anita MacDonald. (2018) Treatment options and dietary supplements for patients with phenylketonuria. Expert Opinion on Orphan Drugs 6:11, pages 667-681.
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Júlio César Rocha & Anita MacDonald. (2016) Dietary intervention in the management of phenylketonuria: current perspectives. Pediatric Health, Medicine and Therapeutics 7, pages 155-163.
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Articles from other publishers (34)

Claire Douillard, Jean-Baptiste Arnoux, Stéphane Bouée, Christian Jacob, Kim Maren Schneider, Julia Theil, Sybil Charrière & Francois Maillot. (2023) Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France – A nationwide study of health insurance claims data. Molecular Genetics and Metabolism, pages 107704.
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Sybil Charrière, Francois Maillot, Stéphane Bouée, Claire Douillard, Christian Jacob, Kim Maren Schneider, Julia Theil & Jean-Baptiste Arnoux. (2023) Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients – A nationwide study of health insurance claims data. Molecular Genetics and Metabolism 139:3, pages 107625.
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Cristiane Mendes de Almeida Duarte, Flavia Balbo Piazzon, Isadora Salvador Rocco & Claudia Berlim de Mello. (2023) Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria. Jornal de Pediatria.
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Carlos G. Perez-Garcia, Ramon Diaz-Trelles, Jerel Boyd Vega, Yanjie Bao, Marciano Sablad, Patty Limphong, Simon Chikamatsu, Hailong Yu, Wendy Taylor, Priya P. Karmali, Kiyoshi Tachikawa & Padmanabh Chivukula. (2022) Development of an mRNA replacement therapy for phenylketonuria. Molecular Therapy - Nucleic Acids 28, pages 87-98.
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Nicola Longo, Ashley Andrews & Fran Rohr. 2022. Nutrition Management of Inherited Metabolic Diseases. Nutrition Management of Inherited Metabolic Diseases 153 167 .
Alberto Burlina, Francjan J. van Spronsen & Nenad Blau. 2022. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases 331 351 .
Oscar Aubi, Karina S. Prestegård, Kunwar Jung-KC, Tie-Jun Sten Shi, Ming Ying, Ann Kari Grindheim, Tanja Scherer, Arve Ulvik, Adrian McCann, Endy Spriet, Beat Thöny & Aurora Martinez. (2021) The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase. Nature Communications 12:1.
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Alok Bharadwaj, Nitin Wahi & Aditya Saxena. (2021) Occurrence of Inborn Errors of Metabolism in Newborns, Diagnosis and Prophylaxis. Endocrine, Metabolic & Immune Disorders - Drug Targets 21:4, pages 592-616.
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Rui Tao, Lin Xiao, Lifang Zhou, Zhaoyue Zheng, Jie Long, Lixing Zhou, Minghai Tang, Biao Dong & Shaohua Yao. (2020) Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase. Molecular Therapy - Methods & Clinical Development 19, pages 507-517.
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George A. Burdock, Aaron B. Cowley & Qing-Shan Li. (2020) Repeat-dose animal toxicity studies and genotoxicity study with deactivated alkaline serine protease (DASP), a protein low in phenylalanine (PHE). Food and Chemical Toxicology 146, pages 111839.
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Susan Beckwitt Turkel, Derek Wong & Linda Randolph. (2020) Psychiatric Symptoms Associated with Inborn Errors of Metabolism. SN Comprehensive Clinical Medicine 2:9, pages 1646-1660.
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Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Carducci, Ana E. Chiesa, John Christodoulou, Maja Đorđević, Lourdes R. Desviat, Aviva Eliyahu, Roeland A.F. Evers, Lena Fajkusova, François Feillet, Pedro E. Bonfim-Freitas, Maria Giżewska, Polina Gundorova, Daniela Karall, Katya Kneller, Sergey I. Kutsev, Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter-Konecki, Ania C. Muntau, Fares Namour, Mariusz Oltarzewski, Andrea Paras, Belen Perez, Emil Polak, Alexander V. Polyakov, Francesco Porta, Marianne Rohrbach, Sabine Scholl-Bürgi, Norma Spécola, Maja Stojiljković, Nan Shen, Luiz C. Santana-da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F. Garbade & Nenad Blau. (2020) The Genetic Landscape and Epidemiology of Phenylketonuria. The American Journal of Human Genetics 107:2, pages 234-250.
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Irene Pereira de Sousa, Charlotte Gourmel, Olena Berkovska, Michael Burger & Jean-Christophe Leroux. (2020) A microparticulate based formulation to protect therapeutic enzymes from proteolytic digestion: phenylalanine ammonia lyase as case study. Scientific Reports 10:1.
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Anita MacDonald, Rani H. Singh, Júlio César Rocha & Francjan J. van Spronsen. (2018) Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria. Nutrition Research Reviews 32:1, pages 70-78.
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Kevin Larimore, Thom Nguyen, Benjamin Badillo, Kelly Lau, Roberto Zori, Gillian Shepherd, Stephen J. Zoog, Haoling H. Weng & Soumi Gupta. (2019) Depletion of interfering IgG and IgM is critical to determine the role of IgE in pegvaliase-associated hypersensitivity. Journal of Immunological Methods 468, pages 20-28.
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Rosa E. Enacán, Mariana Nuñez Miñana, Luis Fernandez, Maria Gabriela Valle, Mercedes Salerno, Claudia I. Fraga, Fernando Santos-Simarro, Laura Prieto, Pablo Lapunzina, Norma Specola & Ana Elena Chiesa. (2019) Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients. Journal of Inborn Errors of Metabolism and Screening 7.
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Hajar Owji & Shiva Hemmati. (2018) A comprehensive in silico characterization of bacterial signal peptides for the excretory production of Anabaena variabilis phenylalanine ammonia lyase in Escherichia coli. 3 Biotech 8:12.
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Soumi Gupta, Kelly Lau, Cary O. Harding, Gillian Shepherd, Ryan Boyer, John P. Atkinson, Vijaya Knight, Joy Olbertz, Kevin Larimore, Zhonghu Gu, Mingjin Li, Orli Rosen, Stephen J. Zoog, Haoling H. Weng & Becky Schweighardt. (2018) Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials. EBioMedicine 37, pages 366-373.
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Nadia Giarratana, Guglielmo Gallina, Valentina Panzeri, Alessandra Frangi, Andrea Canobbio & Giorgio Reiner. (2018) A New Phe-Free Protein Substitute Engineered to Allow a Physiological Absorption of Free Amino Acids for Phenylketonuria. Journal of Inborn Errors of Metabolism and Screening 6, pages 232640981878378.
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Akiko Ohashi, Kaori Mamada, Tomonori Harada, Masako Naito, Tomihisa Takahashi, Shin Aizawa & Hiroyuki Hasegawa. (2017) Organic anion transporters, OAT1 and OAT3, are crucial biopterin transporters involved in bodily distribution of tetrahydrobiopterin and exclusion of its excess. Molecular and Cellular Biochemistry 435:1-2, pages 97-108.
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Kathrin Fuhrmann & Gregor Fuhrmann. (2017) Recent advances in oral delivery of macromolecular drugs and benefits of polymer conjugation. Current Opinion in Colloid & Interface Science 31, pages 67-74.
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Elena Fiori, Diego Oddi, Rossella Ventura, Marco Colamartino, Alessandro Valzania, Francesca Romana D’Amato, Vibeke Bruinenberg, Eddy van der Zee, Stefano Puglisi-Allegra & Tiziana Pascucci. (2017) Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria. PLOS ONE 12:8, pages e0183430.
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Eileen K. Jaffe. (2017) New protein structures provide an updated understanding of phenylketonuria. Molecular Genetics and Metabolism 121:4, pages 289-296.
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Fakher Rahim, Amal Saki Malehi, Majid Mohammadshahi & Roshanak Tirdad. (2017) Combined large neutral amino acid supplementation for phenylketonuria (PKU). Cochrane Database of Systematic Reviews.
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Abrar Turki, Keiko Ueda, Barbara Cheng, Alette Giezen, Ramona Salvarinova, Sylvia Stockler-Ipsiroglu & Rajavel Elango. (2017) The Indicator Amino Acid Oxidation Method with the Use of L-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria. The Journal of Nutrition 147:2, pages 211-217.
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Norma Spécola & Ana Chiesa. (2017) Alternative Therapies for PKU. Journal of Inborn Errors of Metabolism and Screening 5, pages 232640981668573.
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A. MacDonald. 2017. Reference Module in Life Sciences. Reference Module in Life Sciences.
María Julieta González, Rosa Gassió, Rafael Artuch & Jaume Campistol. (2016) Impaired Neurotransmission in Early-treated Phenylketonuria Patients. Seminars in Pediatric Neurology 23:4, pages 332-340.
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Akiko Ohashi, Yusuke Saeki, Tomonori Harada, Masako Naito, Tomihisa Takahashi, Shin Aizawa & Hiroyuki Hasegawa. (2016) Tetrahydrobiopterin Supplementation: Elevation of Tissue Biopterin Levels Accompanied by a Relative Increase in Dihydrobiopterin in the Blood and the Role of Probenecid-Sensitive Uptake in Scavenging Dihydrobiopterin in the Liver and Kidney of Rats. PLOS ONE 11:10, pages e0164305.
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Nenad Blau. (2016) Genetics of Phenylketonuria: Then and Now. Human Mutation 37:6, pages 508-515.
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Christine S. Brown & Uta Lichter-Konecki. (2016) Phenylketonuria (PKU): A problem solved?. Molecular Genetics and Metabolism Reports 6, pages 8-12.
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Robert Robinson, Liam Wong, Raymond Monnat & Elain Fu. (2016) Development of a Whole Blood Paper-Based Device for Phenylalanine Detection in the Context of PKU Therapy Monitoring. Micromachines 7:2, pages 28.
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Peter Burgard, Robin H. Lachmann & John Walter. 2016. Inborn Metabolic Diseases. Inborn Metabolic Diseases 251 263 .
Alberto Burlina, Andrea Celato & Alessandro P. Burlina. 2015. Prognosis of Neurological Diseases. Prognosis of Neurological Diseases 217 247 .

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