Year: 2016
Type: article
Abstract: Newborn screening has revolutionized the diagnosis of many disorders, notably metabolic disorders. Whereas, formerly, a clinical presentation of developmental delay or other features led to the diagnosis, usually too late for optimal treatment, today it is an abnormal finding in newborn screening which leads to the diagnosis and presymptomatic preventative therapy. It is my good fortune to have been involved in newborn screening for virtually all of my 50 years in metabolic disorders—the first 31 years with direct involvement. I have been part of the expansion of newborn screening from the time of the original Guthrie bacterial assays to the addition of tandem mass spectrometry. Newborn screening continues to be a central part of my professional life. This article describes my journey in newborn screening as a metabolic physician and the hallmarks of this journey within the rich history of newborn screening.
DOI: 10.3390/ijns2040014
Author: Harvey Levy
Institutions: Boston Children's Hospital, Harvard University
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,930
Funder: Massachusetts General Hospital
OpenAlex ID: W2556464478