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Article

Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy.

Clinical neurology and neurosurgery - 1 May 2011

Papadimas G K, Spengos K, Konstantinopoulou A, Vassilopoulou S, Vontzalidis A, Papadopoulos C, Michelakakis H, Manta P

Abstract excerpt

OBJECTIVE: Pompe disease is an autosomal recessive lysosomal disorder caused by α-glucosidase deficiency. A specific treatment for the disease with enzyme replacement therapy is currently available. The aim of the present study is to describe the clinical manifestations and the effect of treatment in the first Greek patients with the adult form of the disease. METHODS: Five Greek patients with adult onset Pompe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21216089
DOI: 10.1016/j.clineuro.2010.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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