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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Publication Details

Journal
American Journal of Medical Genetics Part C Seminars in Medical Genetics
Published
2024-09-09
DOI
https://doi.org/10.1002/ajmg.c.32111
Primary Topic
Metabolism and Genetic Disorders
Type
article
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article

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

Suzanne Hollander, Fran Rohr, Stephanie Sacharow, Ann Wessel et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics
Metabolism and Genetic Disorders
article

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

Suzanne Hollander, Fran Rohr, Stephanie Sacharow, Ann Wessel, Susan E. Waisbren, P. Rincón, Harvey L. Levy
article en

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.

American Journal of Medical Genetics Part C Seminars in Medical GeneticsVol. 196(2-3)
Boston Children's Hospital (US), Harvard University (US)
Good health and well-being
Openalex Percentile: Top 78%
Metabolism and Genetic Disorders
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Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening — Suzanne Hollander, Fran Rohr, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics (2024) | TGRS Research Map | TGRS