1 document found, page 1 of 1

Sort by Issue Date
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

Screening for Pompe Disease in a Portuguese High Risk Population

Almeida, V; Conceição, I; Fineza, I; Coelho, T; Silveira, F; Santos, M; Valverde, A; Geraldo, A; Maré, R; Aguiar, TC; Mendonça, C; Martins, J

Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpa...

Date: 2017   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
More info.
go first page go previous page
go to page: 1
go next page go last page
rss feed search results

1 Results

Queried text

Refine Results

Author





















Date


Document Type


Access rights


Resource


Subject