Steven F Dobrowolski

Summary

Affiliation: University of Pittsburgh
Country: USA

Publications

  1. doi Altered DNA methylation in PAH deficient phenylketonuria
    Steven 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
  2. pmc Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
    Steven F Dobrowolski
    Department of Pathology, Children s Hospital of Pittsburgh, Pittsburgh, PA, USA
    Clin Chem 58:1033-9. 2012
  3. doi Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy
    Molly F Wood
    Department of Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Muscle Nerve 49:822-8. 2014
  4. doi The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer
    Steven F Dobrowolski
    Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT, USA
    Mol Genet Metab 100:316-23. 2010
  5. doi Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
    Steven F Dobrowolski
    Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA
    Mol Genet Metab 102:116-21. 2011

Collaborators

Detail Information

Publications5

  1. doi Altered DNA methylation in PAH deficient phenylketonuria
    Steven 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. ..
  2. pmc Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling
    Steven 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...
  3. doi Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy
    Molly 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)...
  4. doi The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer
    Steven 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...
  5. doi Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
    Steven F Dobrowolski
    Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA
    Mol Genet Metab 102:116-21. 2011
    ....