Steven F Dobrowolski

Steven F Dobrowolski

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Steven F Dobrowolski

Steven F Dobrowolski

Publications by authors named "Steven F Dobrowolski"

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31Publications

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Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.

Mol Genet Metab 2019 Sep 14. Epub 2019 Sep 14.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.09.004DOI Listing
September 2019

Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.

Mol Genet Metab 2019 Jul 19. Epub 2019 Jul 19.

Department of Pediatrics, University of Connecticut School of Medicine, Farmington, CT 06030, United States of America; GSD Program, Connecticut Children's Medical Center, Hartford, CT 06106, United States of America.

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http://dx.doi.org/10.1016/j.ymgme.2019.07.011DOI Listing
July 2019

A bone mineralization defect in the Pah model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation.

Mol Genet Metab 2018 11 27;125(3):193-199. Epub 2018 Aug 27.

Department of Pathology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, United States; Veteran's Affairs Medical Center, Pittsburgh, PA, United States.

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http://dx.doi.org/10.1016/j.ymgme.2018.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542264PMC
November 2018

Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.

Pediatr Rep 2017 Nov 21;9(4):7045. Epub 2017 Nov 21.

Division of Medical Genetics, Children's Hospital of Pittsburgh, PA, USA.

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http://dx.doi.org/10.4081/pr.2017.7045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733391PMC
November 2017

Host conditioning and rejection monitoring in hepatocyte transplantation in humans.

J Hepatol 2017 05 24;66(5):987-1000. Epub 2016 Dec 24.

Thomas E. Starzl Transplant Institute, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, United States; Department of Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States; McGowan Institute for Regenerative Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2016.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395353PMC
May 2017

Mitochondrial respiratory chain disorders in the Old Order Amish population.

Mol Genet Metab 2016 08 16;118(4):296-303. Epub 2016 Jun 16.

Department of Pediatrics, School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.06.005DOI Listing
August 2016

Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency.

J Inherit Metab Dis 2016 05 16;39(3):363-372. Epub 2016 Feb 16.

Doctoral Program in Nutrition and Health Sciences, Laney Graduate School, Emory University, Atlanta, GA, USA.

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http://dx.doi.org/10.1007/s10545-015-9910-0DOI Listing
May 2016

Altered DNA methylation in PAH deficient phenylketonuria.

Mol Genet Metab 2015 Jun-Jul;115(2-3):72-7. Epub 2015 Apr 24.

Genomics and Proteomics Core Laboratories, University of Pittsburgh, 3343 Forbes Avenue, Pittsburgh, PA 15260, United States.

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http://dx.doi.org/10.1016/j.ymgme.2015.04.002DOI Listing
March 2016

Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.

Clin Chem 2015 Feb 11;61(2):412-9. Epub 2014 Dec 11.

Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, Centers for Disease Control and Prevention, Atlanta, GA;

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http://dx.doi.org/10.1373/clinchem.2014.231019DOI Listing
February 2015

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Mol Genet Metab 2012 Sep 20;107(1-2):31-6. Epub 2012 Jul 20.

Division of Biological and Biomedical Sciences, Nutrition and Health Sciences, Emory University, Atlanta, GA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029439PMC
September 2012

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

Mol Genet Metab 2012 Aug 29;106(4):403-11. Epub 2012 May 29.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2012.05.013DOI Listing
August 2012

Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.

Clin Chem 2012 Jun 9;58(6):1033-9. Epub 2012 Apr 9.

Department of Pathology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1373/clinchem.2012.183038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334578PMC
June 2012

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.

Mol Genet Metab 2010 Aug 14;100(4):316-23. Epub 2010 Apr 14.

Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.04.002DOI Listing
August 2010

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

J Inherit Metab Dis 2010 Jun 18;33(3):247-60. Epub 2010 May 18.

Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej, Aarhus N, Denmark.

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http://dx.doi.org/10.1007/s10545-010-9101-yDOI Listing
June 2010

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

J Hum Genet 2009 Jun 15;54(6):335-9. Epub 2009 May 15.

Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1038/jhg.2009.37DOI Listing
June 2009

Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons.

Nucleic Acids Res 2008 Jun 29;36(10):3401-8. Epub 2008 Apr 29.

Idaho Technology Inc., 390 Wakara Way and Department of Pathology, University of Utah School of Medicine, 50 North Medical Drive 5B426, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1093/nar/gkn204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2425497PMC
June 2008

Detection and assignment of CYP21 mutations using peptide mass signature genotyping.

Mol Genet Metab 2004 May;82(1):38-47

SpectraGenetics LLC, 4415 Fifth Avenue, Suite 160, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.02.006DOI Listing
May 2004