Publications by authors named "Jerry Vockley"

98Publications

An evidence map of randomised controlled trials evaluating genetic therapies.

BMJ Evid Based Med 2020 Nov 10. Epub 2020 Nov 10.

Southern California Evidence-based Practice Center, Health Care, RAND Corporation, Santa Monica, California, USA.

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http://dx.doi.org/10.1136/bmjebm-2020-111448DOI Listing
November 2020

Living related Liver Transplantation for Metabolic Liver Diseases in Children.

J Pediatr Gastroenterol Nutr 2020 Sep 22. Epub 2020 Sep 22.

Division of Gastroenterology, Hepatology and Nutrition, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1097/MPG.0000000000002952DOI Listing
September 2020

Mitochondrial Disease and Coenzyme Q10 Deficiency: Commentary.

J Pediatr 2020 Sep 20. Epub 2020 Sep 20.

Department of Medical Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA; UPMC Children's Hospital, Pittsburgh, PA; University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2020.09.037DOI Listing
September 2020

Liver transplant for inherited metabolic disease among siblings.

Clin Transplant 2020 Nov 5;34(11):e14090. Epub 2020 Oct 5.

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

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http://dx.doi.org/10.1111/ctr.14090DOI Listing
November 2020

Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.

Mol Genet Metab 2020 Sep 6. Epub 2020 Sep 6.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, United States of America; Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.09.001DOI Listing
September 2020

Long-chain fatty acid oxidation disorders and current management strategies.

Authors:
Jerry Vockley

Am J Manag Care 2020 Aug;26(7 Suppl):S147-S154

Chief of the Division of Medical Genetics and Director of The Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh; and Cleveland Family Endowed Chair in Pediatric Research and Professor of Human Genetics, University of Pittsburgh, both in Pittsburgh, PA. Email:

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http://dx.doi.org/10.37765/ajmc.2020.88480DOI Listing
August 2020

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.

Am J Med Genet A 2020 10 17;182(10):2426-2431. Epub 2020 Aug 17.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.61786DOI Listing
October 2020

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up.

Mol Genet Metab 2020 08 16;130(4):239-246. Epub 2020 Jun 16.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, 12605 E 16th St, Aurora, CO 80045, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.06.006DOI Listing
August 2020

Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.

Mol Genet Metab 2020 04 11;129(4):272-277. Epub 2020 Jan 11.

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

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http://dx.doi.org/10.1016/j.ymgme.2020.01.005DOI Listing
April 2020

A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy.

J Cachexia Sarcopenia Muscle 2020 Aug 25;11(4):909-918. Epub 2020 Feb 25.

Department of Pediatrics, Rebecca D. Considine Research Institute, Akron Children's Hospital, Akron, OH, USA.

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http://dx.doi.org/10.1002/jcsm.12559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432581PMC
August 2020

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.

Neurology 2020 02 2;94(7):e687-e698. Epub 2020 Jan 2.

From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas.

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http://dx.doi.org/10.1212/WNL.0000000000008861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176297PMC
February 2020

5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.

Mol Genet Metab 2020 03 10;129(3):177-185. Epub 2019 Dec 10.

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

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http://dx.doi.org/10.1016/j.ymgme.2019.12.007DOI Listing
March 2020

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

Pediatr Crit Care Med 2019 11;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.

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http://dx.doi.org/10.1097/PCC.0000000000002082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7232857PMC
November 2019

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 11 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.

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

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

Sci Rep 2019 09 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.

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http://dx.doi.org/10.1038/s41598-019-49014-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718683PMC
September 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.

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

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http://dx.doi.org/10.1016/j.ymgme.2019.07.009DOI Listing
April 2020

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.

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http://dx.doi.org/10.1016/j.ymgme.2019.07.011DOI Listing
April 2020

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

Anal Biochem 2019 09 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:

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

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http://dx.doi.org/10.1016/j.ymgme.2019.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6864255PMC
April 2020

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 09 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:

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

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

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

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

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

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

Cell Metab 2019 06 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:

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

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

Response to Letter to the editor.

J Inherit Metab Dis 2019 05 18;42(3):396-397. Epub 2019 Mar 18.

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

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

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

Liver Transpl 2019 06 15;25(6):911-921. Epub 2019 Apr 15.

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

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

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http://link.springer.com/10.1007/s00247-018-4239-0
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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.

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http://doi.wiley.com/10.1002/lt.25304
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http://dx.doi.org/10.1002/lt.25304DOI Listing
September 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.

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

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.

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

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.

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

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

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

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

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

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.

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

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.

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

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.

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

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.

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

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

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

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

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.

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

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

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

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

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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

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

Carnitine.

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

University of Pittsburgh, Pittsburgh, PA.

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

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

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

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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

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.

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

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

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

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

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

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

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.

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

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