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Article

A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.

Frontiers in immunology - 1 Jan 2020

Gupta Punita, Shayota Brian J, Desai Ankit K, Kiblawi Fuad, Myridakis Dorothy, Messina John, Tah Peter, Tambini-King Lorien, Kishnani Priya S

Abstract excerpt

We report the clinical course of the first prenatally diagnosed cross-reactive immunologic material (CRIM)-negative infantile Pompe disease (IPD) patient [homozygous for c.2560C>T (p.Arg854X) variant in the GAA gene] to undergo prophylactic immune tolerance induction (ITI) and enzyme replacement therapy (ERT) within the first 2 days of life. Both parents were found to be carriers of the c.2560C>T (p.Arg854X)...

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Identifiers

PMID: 33013846
DOI: 10.3389/fimmu.2020.01929
PMCID: PMC7498628

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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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