Steven F Dobrowolski
Affiliation: University of Pittsburgh
- 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)...
- The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencerSteven F Dobrowolski
Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT, USA
Mol Genet Metab 100:316-23. 2010..This is particularly important in PAH, since PKU patients harboring such mutations are unlikely to respond to therapy with 6R-tetrahydrobiopterin (BH(4)), despite the fact that the genetic code indicates otherwise...
- Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU populationSteven F Dobrowolski
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA
Mol Genet Metab 102:116-21. 2011....