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
{"title":"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。","authors":"Suzanne Hollander, Harvey Levy, Fran Rohr, Susan Waisbren, Priscila Rincon, Ann Wessel, Stephanie Sacharow","doi":"10.1002/ajmg.c.32111","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32111"},"PeriodicalIF":2.8000,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening.\",\"authors\":\"Suzanne Hollander, Harvey Levy, Fran Rohr, Susan Waisbren, Priscila Rincon, Ann Wessel, Stephanie Sacharow\",\"doi\":\"10.1002/ajmg.c.32111\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":7445,\"journal\":{\"name\":\"American Journal of Medical Genetics Part C: Seminars in Medical Genetics\",\"volume\":\" \",\"pages\":\"e32111\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-09-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Medical Genetics Part C: Seminars in Medical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/ajmg.c.32111\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/ajmg.c.32111","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
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。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
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.
期刊最新文献
Different, Not Less. My Journey With Arthrogryposis and Some of the People Who Made a Difference. Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation. Correction to "Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community". Family Lore, a Variant of Uncertain Significance, and CADASIL.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1