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Article

Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience.

Nephron - 1 Jan 2025

Paltzer Allison, Paltzer Allison M, Quadri Allegra M, Rasmussen Carly, Schiffmann Raphael, Charrow Joel, Prada Carlos E

Abstract excerpt

BACKGROUND: In 2015, Illinois added Fabry disease to the newborn screening (NBS) panel, and numerous individuals who have the controversial p.A143T GLA variant were identified. Ann & Robert H. Lurie Children's Hospital of Chicago identified 80 individuals with this variant. SUMMARY: Of the 80 individuals, 34/80 were identified by NBS, 2/80 were identified by gene panel testing, and 44/80 were identified by...

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Identifiers

PMID: 40159218
DOI: 10.1159/000543920

Genes

GLA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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