Dajnoki A; Muhl A; Fekete, György; Keutzer J; Orsini J; Dejesus V; Zhang XK; Bodamer OA
(2008)
BACKGROUND: Pompe disease, caused by the deficiency of acid alpha-glucosidase (GAA), is a lysosomal storage disorder that manifests itself in its most severe form within the first months of life. Early detection by newborn ...