Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study

BACKGROUND: Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults. Respiratory derangement can be the first indication of LOPD, but the diagnosis may be difficult for p...

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Detalles Bibliográficos
Autores principales: Confalonieri, Marco, Vitacca, Michele, Scala, Raffaele, Polverino, Mario, Sabato, Eugenio, Crescimanno, Grazia, Ceriana, Piero, Antonaglia, Caterina, Siciliano, Gabriele, Ring, Nadja, Zacchigna, Serena, Salton, Francesco, Vianello, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399888/
https://www.ncbi.nlm.nih.gov/pubmed/30832705
http://dx.doi.org/10.1186/s13023-019-1037-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399888/
https://www.ncbi.nlm.nih.gov/pubmed/30832705
http://dx.doi.org/10.1186/s13023-019-1037-1

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