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.
Inglese
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]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/71955
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