Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study by Laetitia Paermentier, Aline Cano, Brigitte Chabrol, Arnaud Roy

Subjects: “…Hyperphenylalaninemia…”
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Cognitive and behavioral impairment in mild hyperphenylalaninemia by S Gülin Evinç, Ferhunde Öktem, Turgay Coskun, Ayşegül Tokatlı, Ali Dursun, Berrak Bilginer-Gürbüz, Yamaç Karaboncuk, Yılmaz Yıldız, Dilşad Foto-Özdemir, Emine Pektaş, H Serap Sivri

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Evaluation of babies with hyperphenylalaninemia diagnosed in the National Newborn Screening Program in Istanbul in 2019 by Pelin Savli, Melike Ersoy, Abdullah Emre Güner, Ibrahim Taş

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Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry by Aileen Kenneson, Margite I. Borth, Rani H. Singh

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PAH and QDPR deficiency associated mutations in the Novosibirsk region of the Russian Federation: Correlation of mutation type with disease manifestation and severity by Baturina Olga A., Tupikin Alexey E., Lukjanova Tatyana V., Sosnitskaya Svetlana V., Morozov Igor V.

Subjects: “…hyperphenylalaninemia…”
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Safety assessment of sapropterin dihydrochloride: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS) by Jiahong Zhong, Xihui Yu, Zhuomiao Lin

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Tetrahydrobiopterin Deficiency: From Phenotype to Genotype by Blau Nenad, Thöny Beat, Heizmann Claus W., Dhondt Jean-Louis

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Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia by Mengting Li, Qi Yang, Sheng Yi, Zailong Qin, Jingsi Luo, Xin Fan

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Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy by Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali

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Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings by Alex S. Aguirre, Edison Haro, Alberto Campodónico, Benjamín Arias-Almeida, Alissa Mendoza, Juan Pozo-Palacios, Vanessa Isabel Romero Aguilar

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Cognitive functioning in mild hyperphenylalaninemia by Alicia de la Parra, María Ignacia García, Susan E. Waisbren, Verónica Cornejo, Erna Raimann

Subjects: “…Benign hyperphenylalaninemia…”
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DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings by Edoardo Fino, Alessandro Barbato, Giusi M. Scaturro, Elena Procopio, Simona Balestrini

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Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation by Karlien L. M. Coene, Corrie Timmer, Susan M. I. Goorden, Amber E. tenHoedt, Leo A. J. Kluijtmans, Mirian C. H. Janssen, Alexander J. M. Rennings, Hubertus C. M. T. Prinsen, Mirjam M. C. Wamelink, George J. G. Ruijter, Irene M. L. W. Körver‐Keularts, M. Rebecca Heiner‐Fokkema, Francjan J. vanSpronsen, Carla E. Hollak, Frédéric M. Vaz, Annet M. Bosch, Marleen C. D. G. Huigen

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DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified by Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam, Matthew Chun Wing Yeung, Toby Chun Hei Chan, Gordon Leung, Chloe Miu Mak, Kiran Moti Belaramani, Cheuk Wing Fung

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Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis by Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila, Sarah Landis

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Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population by Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang

Subjects: “…Hyperphenylalaninemia…”
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Gene mutations in children with phenylalanine hydroxylase deficiency: an analysis of 45 cases in some regions of Chongqing by WANG Dongjuan, ZHANG Juan, LIU Hao, YANG Jing, WAN Kexing, YUAN Zhaojian, YU Chaowen, ZHANG Dayong, LIU Shan, ZOU Lin

Subjects: “…hyperphenylalaninemia…”
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Recommendations on phenylketonuria in Turkey by Turgay Coşkun, Mahmut Çoker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri

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Development and validation of machine-learning models of diet management for hyperphenylalaninemia: a multicenter retrospective study by Yajie Su, Yaqiong Wang, Jinfeng He, Huijun Wang, Xian A, Haili Jiang, Wei Lu, Wenhao Zhou, Long Li

Subjects: “…Hyperphenylalaninemia…”
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Early Diagnosis of 6-Pyruvoyl-tetrahydropterin Synthase Deficiency by Shintaku Haruo

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