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Article

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.

American journal of medical genetics. Part A - 1 Jan 2021

Bosfield Kerri, Regier Debra S, Viall Sarah, Hicks Rebecca, Shur Natasha, Grant Christina L

Abstract excerpt

Mucopolysaccharidosis type I (MPS I)/Hurler syndrome newborn screening was added to the recommended uniform screening panel (RUSP) in 2016. As states have added screening for MPS I, programs have reported increased rates of false positives. Reasons for false positive screens include carrier status, true false positive, late-onset/attenuated forms, and in about half of cases, pseudodeficiency alleles. These...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33098355
DOI: 10.1002/ajmg.a.61930

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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