Rare Diseases
Science in Rare Diseases
To Be a Detective: Finding Gaucher Patients
Hint 1: All-In-One Tool for Easier Gaucher Patient Identification
With Pompe Disease : Time is muscle LOPD Treatment Guide for appropriate and timely intervention
Rare diseases : Dried Blood Spot (DBS)
DBS is a form of biosampling in which blood samples collected from a finger-prick lancet are blotted and dried on filter paper.1
These samples are then sent to analytical laboratories to be analysed using a variety of methods such as enzyme assays and polymerase chain reaction (PCR).2,3
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