A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool.
Musumeci, O., La Marca, G., Spada, M., Mondello, S., Danesino, C., Comi, G., Pegoraro, E., Antonini, G., Marrosu, G., Liguori, R., Morandi, L., Moggio, M., Massa, R., Ravaglia, S., Di Muzio, A., Filosto, M., Tonin, P., Di Iorio, G., Servidei, S., Siciliano, G., Angelini, C., Mongini, T., Toscano, A., LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population, <<JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY>>, 2015; 87 (1): 5-11. [doi:10.1136/jnnp-2014-310164] [http://hdl.handle.net/10807/71955]
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
Servidei, Serenella;
2016
Abstract
A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool.
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