Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis
Hamid Reza Shoraka (Shoraka HR), Ali Akbar Haghdoost (Haghdoost AA), Mohammad Reza Baneshi (Baneshi MR), Zohre Bagherinezhad (Bagherinezhad Z), Farzaneh Zolala (Zolala F)
Clin Exp Pediatr. 2020;63(2):34-43. Published online 2020 Feb 6 DOI: https://doi.org/10.3345/kjp.2019.00465
|
Citations to this article as recorded by
The incidence of phenylketonuria and the evaluation of the indicators program in the southeast of Iran during the years 2012–2019
Fatemeh Rezabeigi Davarani, Hakimeh Khaleghi, Asma Amiri Domari, Atefeh Pourmirzaei, Salman Daneshi
Journal of Neonatal Nursing.2024; 30(3): 230. CrossRef Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect
Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro, Yuwen Li, Meredith Mckoin, Madeline Chenevert, Hans C. Andersson
Molecular Genetics and Metabolism Reports.2024; 38: 101050. CrossRef Protocolo para garantia da segurança alimentar e nutricional de estudantes com Fenilcetonúria através da pesquisa translacional
Cláudia Gonçalves Siqueira, Isabela Cristina de Castro Alves, Flávia Diniz Mayrink, Rivadávio Fernandes Batista de Amorim
Segurança Alimentar e Nutricional.2024; 30: e023040. CrossRef Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe, Marika Kase
International Journal of Neonatal Screening.2024; 10(2): 38. CrossRef Factors Impacting the Reduction in Neophobia Prevalence in Phenylketonuria Patients
Meda-Ada Bugi, Iulius Jugănaru, Raluca Isac, Iulia-Elena Simina, Andrei-Ioan Munteanu, Niculina Mang, Georgiana-Flavia Brad, Delia-Maria Nicoară, Daniela Cîrnatu, Otilia Mărginean
Nutrients.2024; 16(6): 768. CrossRef Phenylketonuria Incidence based on the Results of the Neonatal Screening Program and Evaluation of this Program-based Surveillance Data System in Sirjan City from 2012 to 2019
Fatemeh Rezabeigi-Davarani, Bahareh Kermani, Rasoul Raesi, Salman Daneshi
The Open Public Health Journal.2024;[Epub] CrossRef Epidemiology and distribution of 207 rare diseases in China: A systematic literature review
Yukun Wang, Yicheng Liu, Guoyao Du, Yonghui Liu, Ying Zeng
Intractable & Rare Diseases Research.2024; 13(2): 73. CrossRef Neonatal point-of-care testing
Tina Naghdi, Amir Reza Sharifi, Raziyeh Sadat Tabatabaee, Elmira Azizi, Mohammad Ali Kiani, Hamed Golmohammadi
TrAC Trends in Analytical Chemistry.2024; 175: 117732. CrossRef Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene
Inna S. Tebieva, Polina V. Mishakova, Yulia V. Gabisova, Alana V. Khokhova, Tamara G. Kaloeva, Andrey V. Marakhonov, Olga A. Shchagina, Alexander V. Polyakov, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
International Journal of Molecular Sciences.2024; 25(9): 4598. CrossRef Neonatal screening in Ukraine: development, effectiveness, prospects
E.М. Omelchenko, O.O. Polka, L.А. Karamzina, S.S. Kartashova
Environment & Health.2024; (2 (111)): 10. CrossRef Neurovascular retinal impairment in early-treated adults with phenylketonuria
Rosa Buonamassa, Giacomo Boscia, Marida Gaudiomonte, Silvana Guerriero, Rita Fischetto, Alfonso Montepara, Maria Oliva Grassi, Maria Grazia Pignataro, Pasquale Puzo, Ermete Giancipoli, Marina D’addario, Giovanni Alessio, Francesco Boscia, Pasquale Viggian
Frontiers in Neurology.2024;[Epub] CrossRef Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency
Shawn E. Christ, Georgianne Arnold, Uta Lichter-Konecki, Gerard T. Berry, Dorothy K. Grange, Cary O. Harding, Elaina Jurecki, Harvey Levy, Nicola Longo, Hadley Morotti, Stephanie Sacharow, Janet Thomas, Desiree A. White
Molecular Genetics and Metabolism.2024; 143(1-2): 108541. CrossRef Health economic impact of patients with phenylketonuria (PKU) in France – A nationwide study of health insurance claims data
Jean-Baptiste Arnoux, Claire Douillard, Francois Maillot, Stéphane Bouée, Christian Jacob, Kim Maren Schneider, Julia Theil, Sybil Charrière
Molecular Genetics and Metabolism Reports.2024; 41: 101134. CrossRef Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México
María del Rosario Torres-Sepúlveda, Laura E. Martínez de Villarreal, Jesús Zacarías Villarreal-Pérez, María del Consuelo Ruiz Herrera, Patricia del Carmen Arredondo Vázquez, Ana Karen Treviño-Morales
Global Pediatric Health.2024;[Epub] CrossRef Screening and diagnostic algorithm of hereditary metabolic nephropathies in newborns
Yangel Fuentes Milián, Danyer Daniel Tamayo Ribeaux, Anabel Cepero Rodríguez, Bárbara Martínez Pérez
Multidisciplinar (Montevideo).2024; 2: 67. CrossRef Global prevalence of congenital hypothyroidism among neonates from 1969 to 2020: a systematic review and meta-analysis
Lei Liu, Wenchong He, Jun Zhu, Kui Deng, Huiwen Tan, Liangcheng Xiang, Xuelian Yuan, Qi Li, Menglan Huang, Yingkun Guo, Yongna Yao, Xiaohong Li
European Journal of Pediatrics.2023; 182(7): 2957. CrossRef 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
Sybil Charrière, Francois Maillot, Stéphane Bouée, Claire Douillard, Christian Jacob, Kim Maren Schneider, Julia Theil, Jean-Baptiste Arnoux
Molecular Genetics and Metabolism.2023; 139(3): 107625. CrossRef Mutational landscape of phenylketonuria in Iran
Naser Ajami, Anvar Soleimani, Reza Jafarzadeh‐Esfehani, Mojtaba Hasanpour, Romina Rashid Shomali, Mohammad Reza Abbaszadegan
Journal of Cellular and Molecular Medicine.2023; 27(17): 2457. CrossRef Inborn Errors of Metabolism in Iran: First Report from Iran Metabolic Registry
Farzaneh Abbasi, Saideh Abdolahpour, Reihaneh Mohsenipour, Ali Rabbani, Ali Talea, Ali Mohebbi, Maryam Khazdouz
Iranian Journal of Pediatrics.2023;[Epub] CrossRef Potential alteration enabled peptide elongation for direct serum detection of S100B in the early screening of phenylketonuria
Jin Yu, Yan Li, Hui Zou, Wenmin Hou, Xia Li, Lei Zhou
Sensors and Actuators B: Chemical.2023; 396: 134577. CrossRef A review on the self-assembly of phenylalanine as the hallmark of the neurological disorder phenylketonuria (PKU): origin to therapeutic strategy
Tultul Chowdhury, Soumik Bardhan, Rajkumar Maiti
Proceedings of the Indian National Science Academy.2023; 89(4): 802. CrossRef 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
Claire Douillard, Jean-Baptiste Arnoux, Stéphane Bouée, Christian Jacob, Kim Maren Schneider, Julia Theil, Sybil Charrière, Francois Maillot
Molecular Genetics and Metabolism.2023; 140(3): 107704. CrossRef Resultados del programa de tamiz metabólico en un hospital privado de la Ciudad de México
Alfonso Velasco-Aznar, Mario Enrique Rendón-Macías, Horacio Silva-Ramírez, Moisés Noé Gerardo-Del Hoyo, Héctor Cruz-Camino, Consuelo Cantú-Reyna, Alberto Moscona-Nissan, Diana Wollenstein-Seligson
Revista Mexicana de Pediatría.2023; 90(6): 221. CrossRef Food Regime for Phenylketonuria: Presenting Complications and Possible Solutions
Sudipt Kumar Dalei, Nidhi Adlakha
Journal of Multidisciplinary Healthcare.2022; Volume 15: 125. CrossRef Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program
Dasa Perko, Barbka Repic Lampret, Ziga Iztok Remec, Mojca Zerjav Tansek, Ana Drole Torkar, Blaz Krhin, Ajda Bicek, Adrijana Oblak, Tadej Battelino, Urh Groselj
Genes.2022; 13(3): 517. CrossRef Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids
Jieun Kim, Seungbok Lee, Jaemeun Lee, Jong-Chan Park, Kyung Hyun Kim, Jung Min Ko, Sun-Hyun Park, Seung-Ki Kim, Inhee Mook-Jung, Ji Yeoun Lee
Molecular Genetics and Metabolism.2022; 136(2): 132. CrossRef The relationship between metabolic control and basal ganglia morphometry and function in individuals with early-treated phenylketonuria
Alexander A. Brown, Hayley E. Clocksin, Emily E. Abbene, Mikayla Ursery, Shawn E. Christ
Molecular Genetics and Metabolism.2022; 137(3): 249. CrossRef Complications of the Low Phenylalanine Diet for Patients with Phenylketonuria and the Benefits of Increased Natural Protein
Nicole McWhorter, Mesaki K. Ndugga-Kabuye, Marja Puurunen, Sharon L. Ernst
Nutrients.2022; 14(23): 4960. CrossRef Meta-analyses of cognitive functions in early-treated adults with phenylketonuria
Cristina Romani, Andrew Olson, Lynne Aitkenhead, Lucy Baker, Dhanesha Patel, Francjan Van Spronsen, Anita MacDonald, Annemiek van Wegberg, Stephan Huijbregts
Neuroscience & Biobehavioral Reviews.2022; 143: 104925. CrossRef Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review
Reza Alibakhshi, Aboozar Mohammadi, Nader Salari, Sahand Khamooshian, Mohsen Kazeminia, Keivan Moradi
Metabolic Brain Disease.2021; 36(5): 767. CrossRef Serendipitous discovery of phenylketonuria in Iraq – How to identify and treat?
Daniele Suzete Persike de Oliveira, Kendra J. Bjoraker
Molecular Genetics and Metabolism Reports.2021; 27: 100737. CrossRef Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013–2019
Xuelian Yuan, Jun Zhu, Hanmin Liu, Liangcheng Xiang, Yongna Yao, Qi Li, Kui Deng, Xiaohong Li
Journal of Pediatric Endocrinology and Metabolism.2021; 34(7): 835. CrossRef Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis
Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila, Sarah Landis
Orphanet Journal of Rare Diseases.2021;[Epub] CrossRef Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador
Juan Pozo-Palacios, Génesis García-Díaz, Fernando Cruz, Fabián Porras, Jessica Heras, Eder Cano-Pérez
Journal of Inborn Errors of Metabolism and Screeni.2021;[Epub] CrossRef 25 Hydroxy Vitamin D Level, Bone Health, Vitamin D and Calcium Intake in Chilean Patients with Phenylketonuria and Hyperphenylalaninemias
C. Leiva, P. Bravo, C. Arias, J.F. Cabello, M.J. Leal-Witt, F. Salazar, V. Cornejo
Journal of Inborn Errors of Metabolism and Screeni.2021;[Epub] CrossRef Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers
Mika Scheinin, Jouni Junnila, Giorgio Reiner, Anita MacDonald, Ania C. Muntau
Nutrients.2021; 13(9): 3189. CrossRef Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
Valentina Rovelli, Juri Zuvadelli, Sabrina Paci, Vittoria Ercoli, Alice Re Dionigi, Raed Selmi, Elisabetta Salvatici, Graziella Cefalo, Giuseppe Banderali
Healthcare.2021; 9(11): 1407. CrossRef Quantitative analysis of galactose using LDI-TOF MS based on a TiO2 nanowire chip
Joo-Yoon Noh, Moon-Ju Kim, Mira Kim, Jo-Il Kim, Jong-Min Park, Tae Gyeong Yun, Min-Jung Kang, Jae-Chul Pyun
Journal of Analytical Science and Technology.2021;[Epub] CrossRef The Genetic Landscape and Epidemiology of Phenylketonuria
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.
The American Journal of Human Genetics.2020; 107(2): 234. CrossRef Neonatal Screening for Monogenic Inborn Pathology in Ukraine
E. M. Omelchenko, O. O. Polka, L. A. Karamzina
Ukraïnsʹkij žurnal medicini, bìologìï ta sportu.2020; 5(6): 292. CrossRef
|