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Article

The emerging phenotype of long-term survivors with infantile Pompe disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2012

Prater Sean N, Banugaria Suhrad G, DeArmey Stephanie M, Botha Eleanor G, Stege Erin M, Case Laura E, Jones Harrison N, Phornphutkul Chanika, Wang Raymond Y, Young Sarah P, Kishnani Priya S

Abstract excerpt

PURPOSE: Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors. METHODS: Inclusion criteria included ventilator-free status and age ≤6 months at treatment initiation, and survival to age ≥5 years. Clinical outcome measures included invasive...

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Identifiers

PMID: 22538254
DOI: 10.1038/gim.2012.44
PMCID: PMC3947503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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