Neurological manifestations in an adult with phenylketonuria.
作者信息
Sochań Patryk, Białobrzewski Michał, Sochań Patrycja J, Domitrz Izabela
机构信息
Department of Neurology, Faculty of Medicine and Dentistry, Medical University of Warsaw, Poland.
Department of Neurology, Bielanski Hospital, Warsaw, Poland.
出版信息
Arch Med Sci. 2025 Feb 26;21(1):346-348. doi: 10.5114/aoms/201449. eCollection 2025.
Abstract
摘要
相似文献
1
Neurological manifestations in an adult with phenylketonuria.一名成年苯丙酮尿症患者的神经学表现。
Arch Med Sci. 2025 Feb 26;21(1):346-348. doi: 10.5114/aoms/201449. eCollection 2025.
2
Neurological manifestations in adults with phenylketonuria: new cases and review of the literature.成人苯丙酮尿症的神经表现：新病例及文献复习。
J Neurol. 2020 Feb;267(2):531-542. doi: 10.1007/s00415-019-09608-2. Epub 2019 Nov 7.
3
Neurological outcome in adult patients with early-treated phenylketonuria.成年早期治疗苯丙酮尿症患者的神经学转归
Eur J Pediatr. 1998 Oct;157(10):824-30. doi: 10.1007/s004310050945.
4
Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review.未经治疗的苯丙酮尿症成人的神经和影像学表型：新病例和文献复习。
J Neurol. 2023 Aug;270(8):4060-4079. doi: 10.1007/s00415-023-11760-9. Epub 2023 May 10.
5
Phenylketonuria and maternal phenylketonuria.苯丙酮尿症与母体苯丙酮尿症
Breastfeed Rev. 2001 Jul;9(2):19-21.
6
Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review.苯丙酮尿症延迟诊断伴双侧弥漫性对称性白质病变影像学表现的影响：一例报告及文献综述
Front Neurol. 2019 Oct 4;10:1040. doi: 10.3389/fneur.2019.01040. eCollection 2019.
7
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria.迈向苯丙酮尿症的精准医学：恢复早期治疗的成年苯丙酮尿症患者严格代谢控制的效果
Mol Genet Metab. 2023 Nov;140(3):107666. doi: 10.1016/j.ymgme.2023.107666. Epub 2023 Jul 26.
8
Neurological aspects of adult phenylketonuria.成人苯丙酮尿症的神经学方面
Curr Opin Neurol. 1998 Dec;11(6):679-88. doi: 10.1097/00019052-199812000-00012.
9
Birth weight and pathogenesis in phenylketonuria.
Int J Neurosci. 1990 Oct;54(3-4):259-66. doi: 10.3109/00207459008986642.
10
The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review.早发型苯丙酮尿症成年患者的神经心理学表型：系统综述。
J Inherit Metab Dis. 2019 Mar;42(2):209-219. doi: 10.1002/jimd.12065.
本文引用的文献
1
Phenylketonuria.苯丙酮尿症。
Nat Rev Dis Primers. 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0.
2
Neurological manifestations in adults with phenylketonuria: new cases and review of the literature.成人苯丙酮尿症的神经表现：新病例及文献复习。
J Neurol. 2020 Feb;267(2):531-542. doi: 10.1007/s00415-019-09608-2. Epub 2019 Nov 7.
3
Key European guidelines for the diagnosis and management of patients with phenylketonuria.《欧洲苯丙酮尿症患者诊断和管理指南要点》
Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10.
Zotero 插件