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Original Articles

Are Neuropsychological Impairments in Children with Early-Treated Phenylketonuria (PKU) Related to White Matter Abnormalities or Elevated Phenylalanine Levels?

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Pages 645-668 | Published online: 05 Dec 2007

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Abdelrahim A Sadek, Mohammed H Hassan & Nesreen A Mohammed. (2018) Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years. Neuropsychiatric Disease and Treatment 14, pages 2551-2561.
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Cristina Romani. (2018) Cognitive impairments in inherited metabolic diseases: Promises and challenges. Cognitive Neuropsychology 35:3-4, pages 113-119.
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Cristina Romani, Anita MacDonald, Sara De Felice & Liana Palermo. (2018) Speed of processing and executive functions in adults with phenylketonuria: Quick in finding the word, but not the ladybird. Cognitive Neuropsychology 35:3-4, pages 171-198.
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Zoë W. Hawks, Michael J. Strube, Neco X. Johnson, Dorothy K. Grange & Desirée A. White. (2018) Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria. Developmental Neuropsychology 43:3, pages 207-218.
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Claudia Caprile, Jaume Campistol, Laura Puigcerver, Alfonso-Pablo Gutiérrez-Mata, Itziar Alonso-Colmenero, Roser Colomé & Jordi Navarra. (2017) Subtle visuomotor deficits and reduced benefit from practice in early treated phenylketonuria. Journal of Clinical and Experimental Neuropsychology 39:10, pages 931-940.
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Tara Riddle & Julie Suhr. (2012) Extension of the Contingency Naming Test to Adult Assessment: Psychometric Analysis in a College Student Sample. The Clinical Neuropsychologist 26:4, pages 609-625.
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Pia Banerjee, Dorothy K. Grange, Robert D. Steiner & Desirée A. White. (2011) Executive Strategic Processing During Verbal Fluency Performance in Children with Phenylketonuria. Child Neuropsychology 17:2, pages 105-117.
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Fiona M. Lewis, David J. Coman & Bruce E. Murdoch. (2010) LANGUAGE SKILLS IN A CHILD WITH LEBER HEREDITARY OPTIC NEUROPATHY FOLLOWING INTRATHECAL CHEMOTHERAPY FOR ACUTE LYMPHOBLASTIC LEUKEMIA. Pediatric Hematology and Oncology 27:8, pages 626-635.
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Mitzie L. Grant, Elaina R. Jurecki, Shawn E. McCandless, Stephen M. Stahl, Deborah A. Bilder, Amarilis Sanchez-Valle & David Dimmock. (2023) Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria. The Journal of Pediatrics 260, pages 113526.
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Agnese De Giorgi, Francesca Nardecchia, Filippo Manti, Jaume Campistol & Vincenzo Leuzzi. (2023) Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review. Molecular Genetics and Metabolism 139:2, pages 107588.
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Shawn E. Christ, Hayley E. Clocksin, Maia Zalik, Benjamin D. Goodlett, Stephanie J. Sacharow & Emily E. Abbene. (2023) Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox. Molecular Genetics and Metabolism 139:1, pages 107579.
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Hayley E. Clocksin, Emily E. Abbene & Shawn Christ. (2022) A comprehensive assessment of neurocognitive and psychological functioning in adults with early-treated phenylketonuria. Journal of the International Neuropsychological Society, pages 1-10.
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Deborah A. Bilder, Georgianne L. Arnold, David Dimmock, Mitzie L. Grant, Darren Janzen, Nicola Longo, Mina Nguyen‐Driver, Elaina Jurecki, Markus Merilainen, Gianni Amato & Susan Waisbren. (2021) Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria. American Journal of Medical Genetics Part A 188:3, pages 768-778.
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Elisabetta Anna Tendi, Maria Guarnaccia, Giovanna Morello & Sebastiano Cavallaro. (2022) The Utility of Genomic Testing for Hyperphenylalaninemia. Journal of Clinical Medicine 11:4, pages 1061.
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Iryna Babik. (2022) From Hemispheric Asymmetry through Sensorimotor Experiences to Cognitive Outcomes in Children with Cerebral Palsy. Symmetry 14:2, pages 345.
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Philip David Zelazo, Stella F. Lourenco, Michael C. Frank, Jed T. Elison, Robert K. Heaton, Henry M. Wellman, Jerry Slotkin, Maria Kharitonova & J. Steven Reznick. (2021) Measurement of Cognition for the National Children's Study. Frontiers in Pediatrics 9.
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Hayley E. Clocksin, Zoë W. Hawks, Desirée A. White & Shawn E. Christ. (2021) Inter- and intra-tract analysis of white matter abnormalities in individuals with early-treated phenylketonuria (PKU). Molecular Genetics and Metabolism 132:1, pages 11-18.
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Kristina Aldridge, Kimberly K. Cole, Amanda J. Moffitt Gunn, Dawn Peck, Desirée A. White & Shawn E. Christ. (2020) The effects of early-treated phenylketonuria on volumetric measures of the cerebellum. Molecular Genetics and Metabolism Reports 25, pages 100647.
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Roeland A. F. Evers, Danique Vliet & Francjan J. Spronsen. (2019) Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach. Journal of Inherited Metabolic Disease 43:2, pages 189-199.
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Killian Ashe, Wendy Kelso, Sarah Farrand, Julie Panetta, Tim Fazio, Gerard De Jong & Mark Walterfang. (2019) Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments. Frontiers in Psychiatry 10.
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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.
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R. Feldmann, J. Osterloh, S. Onon, J. Fromm, F. Rutsch & J. Weglage. (2019) Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up. Molecular Genetics and Metabolism 126:3, pages 246-249.
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Gina A. Montoya Parra, Rani H. Singh, Aysun Cetinyurek-Yavuz, Mirjam Kuhn & Anita MacDonald. (2018) Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis. Orphanet Journal of Rare Diseases 13:1.
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Vincent M Isabella, Binh N Ha, Mary Joan Castillo, David J Lubkowicz, Sarah E Rowe, Yves A Millet, Cami L Anderson, Ning Li, Adam B Fisher, Kip A West, Philippa J Reeder, Munira M Momin, Christopher G Bergeron, Sarah E Guilmain, Paul F Miller, Caroline B Kurtz & Dean Falb. (2018) Development of a synthetic live bacterial therapeutic for the human metabolic disease phenylketonuria. Nature Biotechnology 36:9, pages 857-864.
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A. Bartus, F. Palasti, E. Juhasz, E. Kiss, E. Simonova, Cs. Sumanszki & P. Reismann. (2018) The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients. Metabolic Brain Disease 33:5, pages 1609-1615.
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Joseph Leung, Caroline Selvage, Taryn Bosdet, Jennifer Branov, Annie Rosen-Heath, Carole Bishop, Sandra Sirrs & Gabriella Horvath. (2018) Salivary serotonin does not correlate with central serotonin turnover in adult phenylketonuria (PKU) patients. Molecular Genetics and Metabolism Reports 15, pages 100-105.
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Natalia García Restrepo, Jorge Hernández G., María Laura Londoño & Richard Muriel Ramírez. (2018) Deficiencia de fenilalanina hidroxilasa : espectro clínico y estado actual del diagnóstico en Colombia.. Biosalud 17:1, pages 49-64.
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Fatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari & Ibtisam B. Elnour. (2017) A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria. Metabolic Brain Disease 32:4, pages 1119-1121.
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