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

Marco ConfalonieriMichele VitaccaRaffaele ScalaMario PolverinoEugenio SabatoGrazia CrescimannoPiero CerianaCaterina AntonagliaGabriele SicilianoNadja RingSerena ZacchignaFrancesco SaltonAndrea Vianellonull null

Published in: Orphanet journal of rare diseases (2019)

DBS GAA activity test may be a powerful screening tool among pneumologists, particularly in the acute setting. A simple clinical algorithm may aid in the selection of patients on which to administer the DBS test.

Keyphrases

late onset
early onset
end stage renal disease
deep brain stimulation
newly diagnosed
chronic kidney disease
ejection fraction
machine learning
liver failure
peritoneal dialysis
prognostic factors
deep learning
patient reported outcomes
respiratory failure
intensive care unit
drug induced
replacement therapy