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Article

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Neurology - 19 Jul 2016

Lukacs Zoltan, Nieves Cobos Paulina, Wenninger Stephan, Willis Tracey A, Guglieri Michela, Roberts Marc, Quinlivan Rosaline, Hilton-Jones David, Evangelista Teresinha, Zierz Stephan, Schlotter-Weigel Beate, Walter Maggie C, Reilich Peter, Klopstock Thomas, Deschauer Marcus, Straub Volker, Müller-Felber Wolfgang, Schoser Benedikt

Abstract excerpt

OBJECTIVE: We prospectively screened a large European cohort of patients presenting with hyperCKemia and/or limb-girdle muscular weakness (LGMW) for acid α-glucosidase (GAA) deficiency by dried blood spot (DBS) investigation. METHODS: DBS were collected from 3,076 consecutive adult patients from 7 German and British neuromuscular centers. All specimens were investigated for GAA deficiency by fluorometry. Samples...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27170567
DOI: 10.1212/WNL.0000000000002758
PMCID: PMC4955273

Genes

GAA

Provenance

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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