Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood …
E Gutiérrez-Rivas, J Bautista, JJ Vílchez… - Neuromuscular …, 2015 - Elsevier
We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular
dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays.
Subsequently, we aimed to calculate the diagnostic delay between initial symptom
presentation and the diagnosis. A prospective, multicenter, observational study was
conducted in 348 patients: 146 with unclassified LGMD and 202 with asymptomatic or
paucisymptomatic hyperCKemia. We quantified levels of acid alpha-glucosidase (GAA) from …
dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays.
Subsequently, we aimed to calculate the diagnostic delay between initial symptom
presentation and the diagnosis. A prospective, multicenter, observational study was
conducted in 348 patients: 146 with unclassified LGMD and 202 with asymptomatic or
paucisymptomatic hyperCKemia. We quantified levels of acid alpha-glucosidase (GAA) from …