Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8820423 | Revista Portuguesa de Pneumologia (English Edition) | 2017 | 8 Pages |
Abstract
We conclude that DBS test for GAA activity should be recommended for all patients with diaphragmatic paralysis which, despite looking at all the most common causes, remains of unknown etiology; this would improve both the timing and accuracy of diagnosis for Pompe disease in this patient population. Accurate diagnosis will lead to improved care for this rare, progressively debilitating but treatable neuromuscular disease.
Keywords
Related Topics
Health Sciences
Medicine and Dentistry
Pulmonary and Respiratory Medicine
Authors
M.J. Guimarães, J.C. Winck, B. Conde, A. Mineiro, M. Raposo, J. Moita, A. Marinho, J.M. Silva, N. Pires, S. André, C. Loureiro,