Adult onset metabolic/mitochondrial myopathies and dystrophies
Adult onset metabolic/mitochondrial myopathies and dystrophies
Adult onset metabolic/mitochondrial myopathies and dystrophies
Create successful ePaper yourself
Turn your PDF publications into a flip-book with our unique Google optimized e-Paper software.
DBS aids in early diagnosis<br />
The availability of a rapid <strong>and</strong> simple blood-based assay, DBS enables the early<br />
diagnosis of Pompe disease<br />
• Minimally invasive sample collection (Blood draw, heel prick, or finger stick) <strong>and</strong><br />
convenience are compelling reasons for using DBS samples<br />
• Drying the sample on paper is the most cost efficient method for stabilizing enzymes<br />
for shipping<br />
• Clinical laboratory experience has shown<br />
that DBS is a reliable <strong>and</strong> robust method<br />
for screening a large number of patients, with results in days<br />
Winchester et al. Mol Genet Metab. 2008;93:275-281.<br />
Goldstein et al. Muscle Nerve. 2009;40(1):32-36.<br />
36
Change language