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苯丙酮尿症的观点和见解:关于新生儿筛查后早期的提供者叙述。

Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening.

机构信息

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.

Department of Clinical Nutrition, Boston Children's Hospital, Boston, Massachusetts, USA.

出版信息

Am J Med Genet C Semin Med Genet. 2024 Nov;196(2-3):e32111. doi: 10.1002/ajmg.c.32111. Epub 2024 Sep 9.

Abstract

The understanding of phenylketonuria (PKU), guidelines, and treatment landscape have evolved dramatically over the decades since newborn screen implementation. We capture this rich history from the stories and experiences of a multidisciplinary provider team from Boston Children's Hospital's PKU Clinic, who treated PKU from the early years of newborn screening and who worked together for over 40 years.

摘要

几十年来,随着新生儿筛查的实施,苯丙酮尿症(PKU)的认识、指南和治疗领域发生了巨大变化。我们从波士顿儿童医院 PKU 诊所的多学科医疗团队的故事和经验中捕捉到了这一丰富的历史,他们从新生儿筛查的早期就开始治疗 PKU,并且合作了 40 多年。

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