Jerry Vockley

Jerry Vockley

UNVERIFIED PROFILE

Are you Jerry Vockley?   Register this Author

Register author
Jerry Vockley

Jerry Vockley

Publications by authors named "Jerry Vockley"

Are you Jerry Vockley?   Register this Author

97Publications

2652Reads

15Profile Views

Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation.

Clin Transplant 2019 Nov 6;33(11):e13721. Epub 2019 Oct 6.

Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of UPMC, Thomas E. Starzl Transplant Institute, Pittsburgh, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ctr.13721DOI Listing
November 2019

Rapid Whole Genome Sequencing and Fulfilling the Promise of Precision Pediatric Critical Care.

Pediatr Crit Care Med 2019 Nov;20(11):1085-1086

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PCC.0000000000002082DOI Listing
November 2019

Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.

Biochim Biophys Acta Mol Basis Dis 2019 Sep 7;1865(9):2257-2266. Epub 2019 May 7.

Department of Pharmacology & Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA; Pittsburgh Institute for Neurodegenerative Diseases (PIND), University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2019.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659405PMC
September 2019

An acyl-CoA dehydrogenase microplate activity assay using recombinant porcine electron transfer flavoprotein.

Anal Biochem 2019 Sep 10;581:113332. Epub 2019 Jun 10.

Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ab.2019.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661201PMC
September 2019

ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts.

Sci Rep 2019 Sep 2;9(1):12651. Epub 2019 Sep 2.

Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, CEP 90035-003, Porto Alegre, RS, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-49014-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718683PMC
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 Sep - Oct;128(1-2):1-9. 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.

View Article

Download full-text PDF

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

Perspectives on urea cycle disorder management: Results of a clinician survey.

Mol Genet Metab 2019 Sep - Oct;128(1-2):102-108. Epub 2019 Jul 18.

University of Pittsburgh, School of Medicine, Graduate School of Public Health, Pittsburgh, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.07.009DOI Listing
July 2019

Domino liver transplantation for select metabolic disorders: Expanding the living donor pool.

JIMD Rep 2019 Jul 19;48(1):83-89. Epub 2019 Jun 19.

Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of UPMC Thomas E. Starzl Transplantation Institute, University of Pittsburgh School of Medicine Pittsburgh Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmd2.12053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606984PMC
July 2019

Evolving Trends in Liver Transplant for Metabolic Liver Disease in the United States.

Liver Transpl 2019 Jun 15;25(6):911-921. Epub 2019 Apr 15.

Hillman Center for Pediatric Transplantation, University of Pittsburgh, Pittsburgh, PA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/lt.25433DOI Listing
June 2019

Metabolic Reprogramming in Astrocytes Distinguishes Region-Specific Neuronal Susceptibility in Huntington Mice.

Cell Metab 2019 Jun 28;29(6):1258-1273.e11. Epub 2019 Mar 28.

Division of Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cmet.2019.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6583797PMC
June 2019

Response to Letter to the editor.

J Inherit Metab Dis 2019 May 18;42(3):396-397. Epub 2019 Mar 18.

Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12077DOI Listing
May 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Metabolic analysis reveals evidence for branched chain amino acid catabolism crosstalk and the potential for improved treatment of organic acidurias.

Mol Genet Metab 2019 Sep - Oct;128(1-2):57-61. Epub 2019 May 21.

University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, 4401 Penn Ave, Pittsburgh, PA 15224, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.05.008DOI Listing
May 2019

Phenylketonuria: Current Treatments and Future Developments.

Drugs 2019 Apr;79(5):495-500

Division Medical Genetics, Department of Pediatrics, University of Pittsburgh, School of Medicine, Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40265-019-01079-zDOI Listing
April 2019

A proposed nosology of inborn errors of metabolism.

Genet Med 2019 01 8;21(1):102-106. Epub 2018 Jun 8.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0022-8
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286709PMC
January 2019

Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.

Pediatr Radiol 2019 01 3;49(1):3-22. Epub 2018 Oct 3.

Aoba Ward, Miyagi Children's Hospital, Sendai, Miyagi Prefecture, Japan.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00247-018-4239-0
Publisher Site
http://dx.doi.org/10.1007/s00247-018-4239-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6313373PMC
January 2019

Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes.

Liver Transpl 2018 09;24(9):1260-1270

Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/lt.25304
Publisher Site
http://dx.doi.org/10.1002/lt.25304DOI Listing
September 2018

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

Hum Mutat 2018 07 10;39(7):947-953. Epub 2018 May 10.

Departments of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23538DOI Listing
July 2018

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.

Orphanet J Rare Dis 2018 07 4;13(1):108. Epub 2018 Jul 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Hospital, 12605 E. 16th St, Aurora, CO, 80045, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0858-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031112PMC
July 2018

Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial.

Mol Genet Metab 2018 05 18;124(1):20-26. Epub 2018 Mar 18.

Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh and Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192183002
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2018.03.003DOI Listing
May 2018

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

Mol Genet Metab 2018 05 31;124(1):27-38. Epub 2018 Mar 31.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2018.03.006DOI Listing
May 2018

Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy.

Neurology 2018 04 2;90(14):e1212-e1221. Epub 2018 Mar 2.

From the Genetics Unit (A.K.), Massachusetts General Hospital, Boston; UC San Diego School of Medicine (R.H.), La Jolla, CA; Children's Hospital of Pittsburgh (A.G., J.V.), PA; Stealth BioTherapeutics (W.D.W.), Newton, MA; and Akron Children's Hospital (B.H.C.), OH.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000005255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890606PMC
April 2018

Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.

Pediatr Clin North Am 2018 04 28;65(2):317-335. Epub 2017 Dec 28.

Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pcl.2017.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6566095PMC
April 2018

Do inborn errors of metabolism confer or impede the risk of diabetes?

J Inherit Metab Dis 2018 01;41(1):1-2

Department of Pediatrics Graduate School of Public Health, Department of Human Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0121-8DOI Listing
January 2018

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Mol Genet Metab 2017 11 8;122(3):46-53. Epub 2017 Sep 8.

Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.09.002DOI Listing
November 2017

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.

View Article

Download full-text PDF

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

Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice.

Biochem Biophys Rep 2016 Dec 17;8:333-339. Epub 2016 Sep 17.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrep.2016.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613767PMC
December 2016

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.

View Article

Download full-text PDF

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

Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation.

J Inherit Metab Dis 2016 05 23;39(3):399-408. Epub 2016 Feb 23.

Molecular, Cellular and Integrative Physiology Graduate Group, University of California, Davis, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9915-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851894PMC
May 2016

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Mol Genet Metab 2016 May 15;118(1):15-20. Epub 2016 Feb 15.

University of Pittsburgh School of Medicine, Department of Pediatrics, Pittsburgh, PA, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540133PMC
May 2016

Liver transplantation for maple syrup urine disease: A global domino effect.

Pediatr Transplant 2016 May;20(3):350-1

Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/petr.12697DOI 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.

View Article

Download full-text PDF

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

Possible Phenylacetate Hepatotoxicity During 4-Phenylbutyrate Therapy of Byler Disease.

J Pediatr Gastroenterol Nutr 2016 Mar;62(3):424-8

*Baylor College of Medicine, Houston, TX †Children's Hospital of Pittsburgh of UPMC ‡School of Medicine, University of Pittsburgh, Pittsburgh, PA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000001082DOI Listing
March 2016

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Hum Mol Genet 2015 Jun 26;24(11):3238-47. Epub 2015 Feb 26.

Department of Pediatrics, University of Pittsburgh School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15224, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424958PMC
June 2015

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.

Mol Genet Metab Rep 2015 Jun;3:43-46

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA ; Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France ; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2015.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435574PMC
June 2015

Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands.

Biochimie 2015 Jan 18;108:108-19. Epub 2014 Nov 18.

Department of Pediatrics, School of Medicine, Children's Hospital of Pittsburgh, University of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA; Department of Human Genetics, Graduate School of Public Health, Pittsburgh, PA 15213, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biochi.2014.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280362PMC
January 2015

c-Myc programs fatty acid metabolism and dictates acetyl-CoA abundance and fate.

J Biol Chem 2014 Sep 22;289(36):25382-92. Epub 2014 Jul 22.

From the Divisions of Hematology/Oncology and the Department of Microbiology and Molecular Genetics, The University of Pittsburgh, Pittsburgh, Pennsylvania 15219, and the University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania 15224

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M114.580662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155699PMC
September 2014

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:

View Article

Download full-text PDF

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

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.

Mol Genet Metab 2014 May 12;112(1):9-16. Epub 2014 Mar 12.

BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.02.016DOI Listing
May 2014

Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice.

Mol Genet Metab 2014 May 12;112(1):30-9. Epub 2014 Mar 12.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167795PMC
May 2014

Carnitine.

Adv Nutr 2014 May 14;5(3):289-90. Epub 2014 May 14.

University of Pittsburgh, Pittsburgh, PA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3945/an.113.005199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013181PMC
May 2014

Liver transplantation for pediatric metabolic disease.

Mol Genet Metab 2014 Apr 17;111(4):418-27. Epub 2014 Jan 17.

Department of Pediatrics, University of Pittsburgh School of Medicine, 4401 Penn Avenue, Pittsburgh, PA, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA; Division of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Rangos Research Center, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.01.006DOI Listing
April 2014

Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction.

J Biol Chem 2014 Apr 3;289(15):10668-79. Epub 2014 Mar 3.

From the Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15224.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M113.540260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036448PMC
April 2014

Introduction: Neurodevelopmental issues in inborn errors of metabolism.

Dev Disabil Res Rev 2013 ;17(3):185-6

Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ddrr.1121DOI Listing
March 2014

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

Dev Disabil Res Rev 2013 ;17(3):260-8

Department of Psychology, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ddrr.1119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137760PMC
March 2014

The role of sterol-C4-methyl oxidase in epidermal biology.

Biochim Biophys Acta 2014 Mar 18;1841(3):331-5. Epub 2013 Oct 18.

Department of Pediatrics, University of Pittsburgh School of Medicine, Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbalip.2013.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943829PMC
March 2014

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Genet Med 2014 Feb 10;16(2):188-200. Epub 2013 Oct 10.

Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.157DOI Listing
February 2014

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.

Genet Med 2014 Feb 2;16(2):121-31. Epub 2014 Jan 2.

Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918542PMC
February 2014

Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site.

J Biol Chem 2013 Nov 11;288(47):33837-47. Epub 2013 Oct 11.

From the Department of Pediatrics, University of Pittsburgh School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania 15224.

View Article

Download full-text PDF

Source
http://www.jbc.org/lookup/doi/10.1074/jbc.M113.510354
Publisher Site
http://dx.doi.org/10.1074/jbc.M113.510354DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3837126PMC
November 2013

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

Mol Genet Metab 2013 May 13;109(1):21-7. Epub 2013 Feb 13.

Department of Pediatrics, University of Pittsburgh School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628282PMC
May 2013

Development of clinical guidelines for inborn errors of metabolism: commentary.

Mol Genet Metab 2013 Apr 30;108(4):203-5. Epub 2013 Jan 30.

Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15238, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.01.013DOI Listing
April 2013

Neuropsychiatric Symptoms in Inborn Errors of Metabolism: Incorporation of Genomic and Metabolomic Analysis into Therapeutics and Prevention.

Curr Genet Med Rep 2013 Mar 8;1(1):65-70. Epub 2013 Jan 8.

University of Pittsburgh Assistant Professor of Psychiatry, School of MedicineWestern Psychiatric Institute and Clinic 100 N. Bellefield Ave., Rm. 320Pittsburgh, PA 15213, [Tel:(412) 246-5597;Fax:(412) 246-5610; ].

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40142-012-0004-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603703PMC
March 2013

Mitochondrial structure, function and dynamics are temporally controlled by c-Myc.

PLoS One 2012 21;7(5):e37699. Epub 2012 May 21.

Division of Hematology/Oncology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0037699PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3357432PMC
December 2012

Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate.

Mol Genet Metab 2012 Dec 18;107(4):684-9. Epub 2012 Oct 18.

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S109671921200377
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2012.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3504130PMC
December 2012

Metabolomic profiling of amino acids and β-cell function relative to insulin sensitivity in youth.

J Clin Endocrinol Metab 2012 Nov 13;97(11):E2119-24. Epub 2012 Sep 13.

Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, Pennsylvania 15224, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2012-2170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3485593PMC
November 2012

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.

Am J Med Genet C Semin Med Genet 2012 Nov 11;160C(4):322-8. Epub 2012 Oct 11.

Undiagnosed Diseases Program, National Institutes of Health, 10 Center DR, MSC 1205, RM# 3-2551, Bethesda, MD 20892, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.c.31345
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.31345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995744PMC
November 2012

Therapies in inborn errors of oxidative metabolism.

Trends Endocrinol Metab 2012 Sep 25;23(9):488-95. Epub 2012 May 25.

Institut National de la Santé et de la Recherche Médicale Unité 676, Hôpital Robert Debré, F-75019 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tem.2012.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135311PMC
September 2012

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.

J Inherit Metab Dis 2012 Jan 3;35(1):29-40. Epub 2011 Feb 3.

Children's and Adolescents' Hospital, Otto-Heubner Centrum, Pediatric Metabolic Unit, Charité - Universitätsmedizin, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-010-9269-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4136412PMC
January 2012

Thoroughly modern medicine.

Mol Genet Metab 2011 Sep-Oct;104(1-2):1-2. Epub 2011 Jul 20.

University of Pittsburgh Graduate School of Public Health, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15238, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.07.011DOI Listing
January 2012

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Orphanet J Rare Dis 2012 Jan 25;7. Epub 2012 Jan 25.

Center for Pediatrics and Adolescent Medicine, Albert-Ludwigs-Universität Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-7-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3292949PMC
January 2012