Screening for late-onset Pompe disease in Internal Medicine departments in Spain.

Mónica López-RodríguezMiguel Angel Torralba-CabezaIván Pérez de PedroAlberto RiveraRoi Suarez GilAna Gómez-BeldaJose Luis Patier de la PeñaAlberto de Los Santos MorenoAlbert Selva-O'CallaghanIgor Gómez GárateAndrés González GarcíaRoberto HurtadoPablo Tutor de UretaMiguel Ángel Barba-RomeroJosé C MilisendaJosep Maria Graunull null

Published in: Orphanet journal of rare diseases (2023)

Our study highlights the existence of a hidden population of LOPD patients in Internal Medicine departments who might benefit from early diagnosis and early initiation of potential treatments.

Keyphrases

late onset
early onset
end stage renal disease
chronic kidney disease
ejection fraction
peritoneal dialysis