… of muscle biopsy and the utility of blood-based assays in the timely and accurate diagnosis of
Pompe disease … Based on a muscle biopsy, a diagnosis of Pompe disease in adult patients …

… In cases with no family history of PD, muscle biopsy is … of muscle biopsy specimens taken
from Brazilian PD patients. … identified in muscle biopsies from 19 cases of Pompe disease. * …

… Our findings are consistent with muscle biopsy findings obtained at baseline and 3 and
12 months in a clinical study of 8 infantile Pompe disease patients, in which the extent of …

… Apart from the clinical selection criteria for identifying possible late-onset Pompe disease
cases, all muscle biopsies carried out at our centre in the last ten years were re-evaluated. …

… Pompe disease, an inherited deficiency of lysosomal acid … Pompe disease (LOPD) is a
debilitating progressive muscle … GAA is currently available for Pompe patients. Although ERT …

… Enzyme assays, DNA analysis and muscle biopsy were used for Pompe disease diagnosis.
… used to diagnose Pompe disease in patients enrolled in the Pompe Registry and explored …

… Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by
a … Herein, we present the findings of muscle biopsies taken from a series of patients with …

… In summary, quantitative muscle biopsy analysis revealed distinct differences between …
The number of biopsies from patients with infantile Pompe disease analysed by quantitative …

… muscle biopsy samples received at our institute were screened for Pompe disease to determine
the accuracy of the disease … with Pompe disease in this study, screening using muscle …

… Genetic analysis demonstrated that one patient tested positive for Pompe disease and one
… of a diagnostic muscle biopsy to definitively rule out the presence of Pompe disease is limited…