Pompe disease in Austria: clinical, genetic and epidemiological aspects

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760608/
https://www.ncbi.nlm.nih.gov/pubmed/29181627
http://dx.doi.org/10.1007/s00415-017-8686-6

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