相似文献
1
Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroup.
Mol Genet Metab. 2024 Sep-Oct;143(1-2):108555. doi: 10.1016/j.ymgme.2024.108555. Epub 2024 Jul 25.
2
Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence.
Mol Genet Metab. 2010 Oct-Nov;101(2-3):99-109. doi: 10.1016/j.ymgme.2010.05.017. Epub 2010 Jun 22.
3
Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Population.
JMIR Form Res. 2025 Jun 3;9:e63644. doi: 10.2196/63644.
4
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.
Orphanet J Rare Dis. 2025 Aug 1;20(1):394. doi: 10.1186/s13023-025-03702-7.
5
Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial.
Trials. 2020 Feb 13;21(1):178. doi: 10.1186/s13063-019-4022-z.
6
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis. 2022 Sep;45(5):952-962. doi: 10.1002/jimd.12528. Epub 2022 Jun 30.
7
The PKU Patient Registry: Development of a patient-driven registry and initial outcomes.
Mol Genet Metab. 2025 Jul 22;146(1-2):109199. doi: 10.1016/j.ymgme.2025.109199.
8
Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.
Mol Genet Metab. 2013;110 Suppl:S57-61. doi: 10.1016/j.ymgme.2013.10.011. Epub 2013 Oct 22.
9
Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria.
J Neurodev Disord. 2025 Jul 2;17(1):37. doi: 10.1186/s11689-025-09622-8.
10
Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in the assessment of PKU patients and healthy controls.
Mol Genet Metab. 2025 Jun;145(2):109126. doi: 10.1016/j.ymgme.2025.109126. Epub 2025 Apr 26.
引用本文的文献
1
Nutrient Status and Intakes of Adults with Phenylketonuria.
Nutrients. 2024 Aug 15;16(16):2724. doi: 10.3390/nu16162724.
本文引用的文献
1
Test-Retest Reliability and Reliable Change on the NIH Toolbox Cognition Battery.
Arch Clin Neuropsychol. 2024 Aug 24;39(6):702-713. doi: 10.1093/arclin/acae011.
2
Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.
Pediatr Res. 2023 Dec;94(6):2005-2015. doi: 10.1038/s41390-023-02722-y. Epub 2023 Jul 15.
3
Assessing Inhibitory Control Deficits in Adult ADHD: A Systematic Review and Meta-analysis of the Stop-signal Task.
Neuropsychol Rev. 2024 Jun;34(2):548-567. doi: 10.1007/s11065-023-09592-5. Epub 2023 Jun 10.
4
Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria.
J Pediatr. 2023 Sep;260:113526. doi: 10.1016/j.jpeds.2023.113526. Epub 2023 May 30.
5
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.
Mol Genet Metab. 2023 Jul;139(3):107612. doi: 10.1016/j.ymgme.2023.107612. Epub 2023 May 21.
6
Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox.
Mol Genet Metab. 2023 May;139(1):107579. doi: 10.1016/j.ymgme.2023.107579. Epub 2023 Apr 8.
7
The impact of metabolic control on cognition, neurophysiology, and well-being in PKU: A systematic review and meta-analysis of the within-participant literature.
Mol Genet Metab. 2023 Jan;138(1):106969. doi: 10.1016/j.ymgme.2022.106969. Epub 2022 Dec 13.
8
Picnic, Accident or Cookies? A Systematic Approach to Guide the Selection of the Picture Definition Tasks in Linguistic Assessment.
Arch Clin Neuropsychol. 2023 Feb 18;38(2):236-246. doi: 10.1093/arclin/acac109.
9
Meta-analyses of cognitive functions in early-treated adults with phenylketonuria.
Neurosci Biobehav Rev. 2022 Dec;143:104925. doi: 10.1016/j.neubiorev.2022.104925. Epub 2022 Oct 22.
10
A comprehensive assessment of neurocognitive and psychological functioning in adults with early-treated phenylketonuria.
J Int Neuropsychol Soc. 2023 Aug;29(7):641-650. doi: 10.1017/S1355617722000686. Epub 2022 Sep 22.
Zotero 插件