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Article

Pompe disease in Austria: clinical, genetic and epidemiological aspects.

Journal of neurology - 1 Jan 2018

Löscher W N, Huemer M, Stulnig T M, Simschitz P, Iglseder S, Eggers C, Moser H, Möslinger D, Freilinger M, Lagler F, Grinzinger S, Reichhardt M, Bittner R E, Schmidt W M, Lex U, Brunner-Krainz M, Quasthoff S, Wanschitz J V

Abstract excerpt

In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. We found 25 patients in 24...

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Identifiers

PMID: 29181627
DOI: 10.1007/s00415-017-8686-6
PMCID: PMC5760608

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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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