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Article

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study.

Neuromuscular disorders : NMD - 1 Nov 2016

Ünver Olcay, Hacıfazlıoğlu Nilüfer Eldeş, Karatoprak Elif, Güneş Ayfer Sakarya, Sağer Güneş, Kutlubay Büşra, Sözen Gülhan, Saltık Sema, Yılmaz Kutluhan, Kara Bülent, Türkdoğan Dilşad

Abstract excerpt

The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid α-glucosidase (GAA) activity was...

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Identifiers

PMID: 27666774
DOI: 10.1016/j.nmd.2016.09.001

Genes

GAA

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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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