对苯丙酮尿症的看法和见解：提供者讲述新生儿筛查后的最初几年。

IF 2.8 3区医学 Q2 GENETICS & HEREDITY

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-09-09 DOI:10.1002/ajmg.c.32111

Suzanne Hollander, Harvey Levy, Fran Rohr, Susan Waisbren, Priscila Rincon, Ann Wessel, Stephanie Sacharow

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引用次数: 0

摘要

自新生儿筛查实施以来的几十年间，人们对苯丙酮尿症（PKU）的认识、指南和治疗方法都发生了巨大的变化。我们从波士顿儿童医院 PKU 诊所多学科医疗团队的故事和经验中捕捉到了这段丰富的历史，他们在新生儿筛查初期就开始治疗 PKU，并一起工作了 40 多年。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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.

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来源期刊

American Journal of Medical Genetics Part C: Seminars in Medical Genetics 医学-遗传学

CiteScore

7.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.