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Article

Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.

Journal of the neurological sciences - 15 Dec 2008

van der Beek N A M E, Soliman O I I, van Capelle C I, Geleijnse M L, Vletter W B, Kroos M A, Reuser A J J, Frohn-Mulder I M E, van Doorn P A, van der Ploeg A T

Abstract excerpt

BACKGROUND AND OBJECTIVE: Pompe disease is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase. All affected neonates have a severe hypertrophic cardiomyopathy, leading to cardiac failure and death within the first year of life. We investigated the presence and extent of cardiac involvement in children and adults with Pompe disease with the common c.-32-13T>G genotype to determine the...

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Identifiers

PMID: 18757064
DOI: 10.1016/j.jns.2008.07.013

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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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