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Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.

Molecular genetics and metabolism - 1 Mar 2022

Huggins Erin, Holland Maggie, Case Laura E, Blount Janet, Landstrom Andrew P, Jones Harrison N, Kishnani Priya S

Abstract excerpt

PURPOSE: Thoroughly phenotype children with late-onset Pompe disease (LOPD) diagnosed via newborn screening (NBS) to provide guidance for long-term follow up. METHODS: Twenty infants ages 6-21 months with LOPD diagnosed by NBS underwent systematic clinical evaluation at Duke University including cardiac imaging, biomarker testing, physical therapy evaluation, and speech-language pathology evaluation. RESULTS: Of...

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PMID: 35123877
DOI: 10.1016/j.ymgme.2022.01.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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