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Article

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.

Molecular genetics and metabolism - 1 Nov 2017

Rairikar Mugdha V, Case Laura E, Bailey Lauren A, Kazi Zoheb B, Desai Ankit K, Berrier Kathryn L, Coats Julie, Gandy Rachel, Quinones Rebecca, Kishnani Priya S

Abstract excerpt

OBJECTIVE: Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are not clear. This IVS variant is noted in 68-90% cases with LOPD and has been presumed to result in "adult" disease in compound heterozygosity, with a few cases...

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Identifiers

PMID: 28951071
DOI: 10.1016/j.ymgme.2017.09.008
PMCID: PMC5722675

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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