LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

Risultato della ricerca: Contributo in rivistaArticolo in rivista

34 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)5-11
Numero di pagine7
RivistaJournal of Neurology, Neurosurgery and Psychiatry
Volume87
DOI
Stato di pubblicazionePubblicato - 2016

Keywords

  • METABOLIC DISEASE
  • MUSCLE DISEASE

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