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[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease].

Orvosi hetilap - 25 Sept 2011

Bereznai Benjamin, Trauninger Anita, György Ilona, Szakszon Katalin, Almássy Zsuzsanna, Pál Endre, Herczegfalvi Agnes, Várdi Visy Katalin, Illés Zsolt, Molnár Mária Judit

Abstract excerpt

UNLABELLED: Pompe's disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase. AIMS AND METHODS: Authors analyzed the phenotype of 11 Hungarian patients with Pompe's disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients. RESULTS: One patient with atypical infantile form presented with cardiomyopathy and a very...

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Identifiers

PMID: 21920843
DOI: 10.1556/OH.2011.29184

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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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