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Article

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

Orphanet journal of rare diseases - 18 May 2016

van Capelle C I, van der Meijden J C, van den Hout J M P, Jaeken J, Baethmann M, Voit T, Kroos M A, Derks T G J, Rubio-Gozalbo M E, Willemsen M A, Lachmann R H, Mengel E, Michelakakis H, de Jongste J C, Reuser A J J, van der Ploeg A T

Abstract excerpt

BACKGROUND: As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical characteristics and genotypes. We included all patients younger than 18 years, who had been evaluated at the Pompe Center in Rotterdam, the Netherlands, between 1975 and 2012, excluding those with the classic-infantile form. None were treated with enzyme...

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Identifiers

PMID: 27189384
DOI: 10.1186/s13023-016-0442-y
PMCID: PMC4870771

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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