- Altered DNA methylation in PAH deficient phenylketonuriaSteven F Dobrowolski
Department of Pathology, Children s Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, United States Electronic address
Mol Genet Metab 115:72-7. 2015..Aberrant methylation is observed in leukocytes of PKU patients and is influenced by PHE exposure. DNA methylation may provide a biomarker relating to historic PHE exposure. ..
- Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profilingSteven F Dobrowolski
Department of Pathology, Children s Hospital of Pittsburgh, Pittsburgh, PA, USA
Clin Chem 58:1033-9. 2012..To identify presymptomatic SMA patients, we created a DNA-based newborn screening assay to identify the homozygous deletions of the SMN1 (survival of motor neuron 1, telomeric) gene observed in 95%-98% of affected patients...
- Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophyMolly F Wood
Department of Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
Muscle Nerve 49:822-8. 2014..We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA)...