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Article

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

The Journal of pediatrics - 1 Nov 2017

Burton Barbara K, Charrow Joel, Hoganson George E, Waggoner Darrell, Tinkle Brad, Braddock Stephen R, Schneider Michael, Grange Dorothy K, Nash Claudia, Shryock Heather, Barnett Rebecca, Shao Rong, Basheeruddin Khaja, Dizikes George

Abstract excerpt

OBJECTIVES: To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois. STUDY DESIGN: Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago....

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Identifiers

PMID: 28728811
DOI: 10.1016/j.jpeds.2017.06.048

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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