Published in
JIMD Reports, p. 65-75
Links
- ORCID
- Crossref
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
- [www.researchgate.net] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
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Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
Journal article published in 2014 by
Andreas Hahn,
Susanne Praetorius,
Nesrin Karabul,
Johanna Dießel,
Dorle Schmidt,
Reinald Motz,
Claudia Haase,
Martina Baethmann,
Julia B. Hennermann,
Martin Smitka,
René Santer,
Nicole Muschol,
Ann Meyer,
Thorsten Marquardt,
Martina Huemer 
and other authors.
and other authors.
Abstract
Purpose: Enzyme replacement therapy (ERT) has been shown to improve outcome in classical infantile Pompe disease. The purpose of this study was to assess mortality, morbidity, and shortcomings of ERT in a larger cohort of patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data of all 23 subjects with classical infantile Pompe disease having started ERT in Germany between January 2003 and December 2010.