Is More Effective Newborn Screening for Homocystinuria on the Horizon?
Author:
Affiliation:
1. Division of Genetics and Genomics, Boston Children’s Hospital and Department of Pediatrics, Harvard Medical School , Boston, MA , United States
2. New England Newborn Screening Program and UMass Chan Medical School , Worcester, MA , USA
Publisher
Oxford University Press (OUP)
Subject
Biochemistry (medical),Clinical Biochemistry
Link
https://academic.oup.com/clinchem/article-pdf/69/5/433/50119634/hvad027.pdf
Reference12 articles.
1. Homocystinuria: a new inborn error of metabolism associated with mental deficiency;Carson;Arch Dis Child,1963
2. Studies of 20 families with 38 affected members;Schimke;JAMA,1965
3. Screening for “inborn errors of metabolism” in the newborn infant—a multiple test program;Guthrie;Birth Def Orig Art Ser,1968
4. Early development of newborn screening for HCU and current challenges;Levy;Int J Neonatal Screen,2021
Cited by 2 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. Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?;Journal of Inherited Metabolic Disease;2024-06-14
2. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23
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