Forschung & Innovation
Publikationen
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
PMU Autor*innen
Florian Lagler, Susanne Grinzinger
Alle Autor*innen
W N Löscher, M. Huemer, T M Stulnig, P. Simschitz, S. Iglseder, C. Eggers, H. Moser, D. Möslinger, M. Freilinger, Florian Lagler, Susanne Grinzinger, M. Reichhardt, R E Bittner, W M Schmidt, U. Lex, M. Brunner-Krainz, S. Quasthoff, J V Wanschitz
Fachzeitschrift
JOURNAL OF NEUROLOGY
Kurzfassung
Keywords
FEATURES, COHORT, PHENOTYPE, DIAGNOSIS, HYPERCKEMIA, NATIONWIDE, ENZYME REPLACEMENT THERAPY, SPECTRUM, ACID MALTASE DEFICIENCY