Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands.
Mol Genet Metab. 2011;104 Suppl:S45-51. doi: 10.1016/j.ymgme.2011.09.036. Epub 2011 Oct 6.
The aim of this paper is to provide a concise summary of findings from outcome studies in early-treated phenylketonuria (PKU). The paper should not be considered as an extensive review of the many different outcome measures that have been used in PKU-research, but as an attempt to integrate such findings so that they will be of additional value for day to day monitoring of PKU-patients and may direct future research to fill the present gaps of knowledge. Neurological, neuropsychological, neurophysiological, neuroimaging, quality of life, and psychosocial findings will be discussed in the context of their potential contributions to lifelong follow-up and treatment of PKU-patients being summarized in statements.
本文旨在对早发性苯丙酮尿症（PKU）的研究结果进行简要总结。本文不应被视为对 PKU 研究中使用的众多不同结果测量方法的广泛回顾，而应试图整合这些研究结果，以便为 PKU 患者的日常监测提供额外的价值，并指导未来的研究以填补目前知识空白。将讨论神经学、神经心理学、神经生理学、神经影像学、生活质量和社会心理方面的发现，以及它们对 PKU 患者终身随访和治疗的潜在贡献，并在陈述中进行总结。
