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

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

Abstract 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 difficu...

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Bibliographic Details
Main Authors: Marco Confalonieri, Michele Vitacca, Raffaele Scala, Mario Polverino, Eugenio Sabato, Grazia Crescimanno, Piero Ceriana, Caterina Antonaglia, Gabriele Siciliano, Nadja Ring, Serena Zacchigna, Francesco Salton, Andrea Vianello, on behalf of AIPO Pneumoloped Group
Format: Article
Language:English
Published: BMC 2019-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Late-onset Pompe disease
Acute respiratory failure
Respiratory high dependency care unit
Noninvasive ventilation
Diagnosis
Online Access:http://link.springer.com/article/10.1186/s13023-019-1037-1

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http://link.springer.com/article/10.1186/s13023-019-1037-1

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