Letter to the Editor regarding Hubacek et al.’s report “Lack of an association between SNPs within the cholinergic receptor genes and smoking behavior in a Czech post-MONICA study”

We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory.
Source: Genetics and Molecular Biology - Category: Genetics & Stem Cells Source Type: research