The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening-Reference-Cited by-同舟云学术

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The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening

Published:2024-09 Issue: Volume:40 Page:101099
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Sacharow S.,Zhu E.,Hollander S.

Publisher

Elsevier BV

Reference15 articles.

1. The genetic landscape and epidemiology of phenylketonuria;Hillert;Am. J. Hum. Genet.,2020

2. Phenylalanine hydroxylase deficiency: diagnosis and management guideline [published correction appears in Genet Med. 2014 Apr;16(4):356];Vockley;Genet. Med.,2014

3. Blood screening for phenylketonuria;Guthrie;JAMA,1961

4. Robert Guthrie and the trials and tribulations of newborn screening;Levy;Int. J. Neonatal Screen.,2021

5. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants;Guthrie;Pediatrics,1963

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-09-09

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