J. Vockley

J. Vockley, G. Mazariegos, B. Shneider, 2011, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

J. Vockley, H. Homayoun, D. Lacomis, 2011, Neuromuscular Disorders.

Disorders of Leucine, Isoleucine, and Valine Metabolism

J. Vockley, K. Gibson, I. Knerr, 2014 .

Mitochondrial Disease and Coenzyme Q10 Deficiency: Commentary.

J. Vockley, A. Woerner, 2020, The Journal of pediatrics.

Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease

J. Vockley, Thomas Defay, A. Goldenberg, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

J. Vockley, M. He, P. Watkins, 2007, American journal of human genetics.

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

J. Vockley, S. Dobrowolski, T. Derks, 2019, Molecular genetics and metabolism.

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

E. Prochownik, J. Vockley, Jie Lu, 2014, The Journal of Biological Chemistry.

Alterations in c-Myc phenotypes resulting from dynamin-related protein 1 (Drp1)-mediated mitochondrial fission

E. Prochownik, B. Van Houten, J. Vockley, 2013, Cell Death and Disease.

Mitochondrial Structure, Function and Dynamics Are Temporally Controlled by c-Myc

E. Prochownik, B. Van Houten, Yudong Wang, 2012, PloS one.

Structures of Isobutyryl-CoA Dehydrogenase and Enzyme-Product Complex

J. Vockley, K. Battaile, Jung‐Ja P. Kim, 2004, Journal of Biological Chemistry.

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

Melissa L McPheeters, Mary Lou Lindegren, Anita MacDonald, 2014, Molecular genetics and metabolism.

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

John J. Mitchell, Jerry Vockley, Barbara K Burton, 2013, Genetics in Medicine.

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways.

J. Vockley, M. Bennett, P. Rinaldo, 2000, Molecular genetics and metabolism.

Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long‐chain fatty acid oxidation disorders

Michael L. Blackburn, J. Vockley, S. Adams, 2019, Physiological reports.

Organic Acidemias and Disorders of Fatty Acid Oxidation

J. Vockley, 2021, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

A. Mathur, J. Vockley, P. Rinaldo, 1999, Circulation.

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

J. Vockley, C. W. Vockley, C. Cameron, 2016, Molecular genetics and metabolism.

Diagnosis and management of defects of mitochondrial β-oxidation

J. Vockley, Rani H. Singh, D. Whiteman, 2002 .

The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

Aashish N. Adhikari, J. Vockley, R. Gallagher, 2021, Frontiers in Pediatrics.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Gene-Targeted Mice

P. A. Wood, T. Schoeb, J. Vockley, 2005, PLoS genetics.

Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.

J. Vockley, M. Bennett, R. Boriack, 2000, The Journal of pediatrics.

Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation.

D. Kurtz, W. O'Brien, P. A. Wood, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Human Acyl-CoA Dehydrogenase-9 Plays a Novel Role in the Mitochondrial β-Oxidation of Unsaturated Fatty Acids*

Jerry Vockley, Thomas J Corydon, Miao He, 2005, Journal of Biological Chemistry.

Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2- methylpentadecanoyl-CoA.

J. Vockley, M. McBurney, P. V. Van Veldhoven, 1998, Biochimica et biophysica acta.

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

J. Vockley, B. Burton, N. Longo, 2018, Genetics in Medicine.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

A proposed nosology of inborn errors of metabolism

Nenad Blau, Carlos R. Ferreira, Clara D.M. van Karnebeek, 2018, Genetics in Medicine.

Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity

Jerry Vockley, J. Vockley, R. Ensenauer, 2006, American journal of medical genetics. Part C, Seminars in medical genetics.

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation

B. L. de Groot, R. Ganetzky, J. Vockley, 2019, Human mutation.

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

J. Vockley, G. Mazariegos, Robert H. Squires, 2018, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.

J. Vockley, W. Liu, P. Rogan, 2000, American journal of human genetics.

J. Vockley, G. Mazariegos, J. Squires, 2020, Journal of pediatric gastroenterology and nutrition.

Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders

J. Vockley, H. Ischiropoulos, L. Spruce, 2021, Redox biology.

Epitopes of human intestinal alkaline phosphatases, defined by monoclonal antibodies

J. Vockley, H. Harris, K. Ray, 1984, FEBS letters.

Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior.

R. Naviaux, J. Vockley, D. Finegold, 2017, The American journal of psychiatry.

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

J. Vockley, L. Pan, Lisa A Pan, 2013, Current Genetic Medicine Reports.

GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour

J. Vockley, D. Brent, L. Pan, 2011, BMJ Case Reports.

Redesigning the active-site of an acyl-CoA dehydrogenase: new evidence supporting a one-base mechanism.

J. Vockley, I. Shin, S. Dakoji, 1997, Bioorganic & medicinal chemistry.

Diagnosis and management of defects of mitochondrial beta-oxidation.

J. Vockley, Rani H. Singh, D. Whiteman, 2002, Current opinion in clinical nutrition and metabolic care.

Biomarkers for drug development in propionic and methylmalonic acidemias

J. Vockley, N. Longo, J. Sass, 2022, Journal of inherited metabolic disease.

Misfolding, Degradation, and Aggregation of Variant Proteins

L. Bolund, P. Bross, J. Vockley, 2003, Journal of Biological Chemistry.

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

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome

S. Dimauro, C. Berlin, J. Vockley, 2003, Neuromuscular Disorders.

Proteomic analysis of hyperdynamic mouse hearts with enhanced sarcoplasmic reticulum calcium cycling

J. Vockley, T. Stevenson, J. Maggio, 2004, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

J. Vockley, S. Wortmann, T. Derks, 2020, Genetics in Medicine.

A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency

J. Vockley, M. He, P. Watkins, 2007 .

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.

H. Freeze, M. Patterson, J. Vockley, 1999, The Journal of pediatrics.

Acyl-CoA Dehydrogenases: Dynamic History of Protein Family Evolution

J. Vockley, A. Mohsen, Zuzana Swigoňová, 2009, Journal of Molecular Evolution.

Crystal Structure of Rat Short Chain Acyl-CoA Dehydrogenase Complexed with Acetoacetyl-CoA

J. Vockley, K. Battaile, D. Bennett, 2002, The Journal of Biological Chemistry.

Short-chain acyl-coenzyme A dehydrogenase deficiency.

J. Vockley, M. Bennett, R. Jethva, 2008, Molecular genetics and metabolism.

The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats

P. Wipf, J. Vockley, G. Leipnitz, 2020, Journal of inherited metabolic disease.

Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience.

K. Strauss, D. Morton, J. Vockley, 2012, The Journal of pediatrics.

Postnatal Pancraniosynostosis in a Patient with Infantile Hypophosphatasia

J. Vockley, J. Gatherwright, W. Selman, 2016, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Survey of Health Care Provider Understanding of Gene Therapy Research for Inherited Metabolic Disorders.

J. Hansen, J. Vockley, R. Ramachandran, 2022, Clinical therapeutics.

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

J. Vockley, M. Palladino, B. Roland, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Increased Levels of Plasma Acylcarnitines in Obesity and Type 2 Diabetes and Identification of a Marker of Glucolipotoxicity

F. Toledo, J. DeLany, B. Goodpaster, 2010, Obesity.

Domino transplantation for pediatric liver recipients: Obstacles, challenges, and successes

J. Vockley, G. Mazariegos, J. Squires, 2021, Pediatric transplantation.

Metabolic Control and 'Ideal' Outcomes in Liver Transplantation for Maple Syrup Urine Disease.

K. Strauss, J. Vockley, G. Mazariegos, 2021, The Journal of pediatrics.

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

K. Strauss, J. Vockley, G. Mazariegos, 2019, Clinical transplantation.

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

K. Strauss, J. Vockley, G. Mazariegos, 2019, JIMD reports.

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

J. Vockley, G. Mazariegos, Robert H. Squires, 2016, Pediatric transplantation.

Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: A case series

K. Strauss, D. Morton, M. Dew, 2011, Pediatric transplantation.

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

M. Leichsenring, J. Vockley, S. Grünert, 2012, Orphanet Journal of Rare Diseases.

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

J L Merritt, B F Scharschmidt, S. Cederbaum, 2012, Molecular genetics and metabolism.

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

L. Bolund, P. Bross, B. Andresen, 2008, Human Genetics.

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene

J. Vockley, A. Sewell, F. Zintl, 2003, Journal of Inherited Metabolic Disease.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

Molecular Cloning and Nucleotide Sequence of cDNAs Encoding the Precursors o : f Rat Long Chain Acyl-Coenzyme A , Short Chain Acyl-Coenzyme A , and Isovaleryl-Coenzyme A Dehydrogenases

J. Vockley, Y. Indo, J. Kraus, 2001 .

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.

J. Vockley, K. Battaile, S. Volchenboum, 1998, Biochemistry.

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.

J. Vockley, A. Mohsen, Anuradha Karunanidhi, 2021, Molecular genetics and metabolism.

Mitochondrial Import and Processing of Wild Type and Type III Mutant Isovaleryl-CoA Dehydrogenase*

J. Vockley, S. Volchenboum, 2000, The Journal of Biological Chemistry.

Arginine 387 of human isovaleryl-CoA dehydrogenase plays a crucial role in substrate/product binding.

J. Vockley, S. Volchenboum, J. J. Kim, 2001, Molecular genetics and metabolism.

Cloning of genomic and cDNA for mouse isovaleryl-CoA dehydrogenase (IVD) and evolutionary comparison to other known IVDs.

J. Vockley, A. Mohsen, T. Reinard, 2001, Gene.

Cloning of a Gene for an Acyl-CoA Dehydrogenase from Pisum sativum L. and Purification and Characterization of Its Product as an Isovaleryl-CoA Dehydrogenase*

J. Vockley, H. Jacobsen, Thomas Reinard, 2000, The Journal of Biological Chemistry.

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Jerry Vockley, J. Vockley, K. Moseley, 2014, Genetics in Medicine.

A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment

J. Vockley, S. Dobrowolski, Y. L. Phua, 2023, bioRxiv.

Central pontine myelinolysis as a complication of partial ornithine carbamoyl transferase deficiency.

N. Lindor, J. Vockley, R. Groover, 1995, American journal of medical genetics.

Structure and analysis of the human dimethylglycine dehydrogenase gene.

J. Vockley, R. Jenkins, B. Binzak, 2000, Molecular genetics and metabolism.

Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation

J. Vockley, B. Seminotti, C. W. Vockley, 2019, Scientific Reports.

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

J. Vockley, B. Day, G. Uechi, 2014, Molecular genetics and metabolism.

Identification and characterization of new long chain acyl-CoA dehydrogenases.

J. Vockley, M. He, P. Watkins, 2011, Molecular genetics and metabolism.

Short-chain acyl–CoA dehydrogenase deficiency

J. Vockley, R. Haslam, M. Bennett, 1999, Neurology.

Mitochondrial dysfunction associated with TANGO2 deficiency

J. Vockley, C. S. St. Croix, A. Mohsen, 2022, Scientific Reports.

Enhanced Defense against Pneumocystis carinii Mediated by a Novel Dectin-1 Receptor Fc Fusion Protein1

J. Vockley, J. Kolls, E. Goetzman, 2007, The Journal of Immunology.

Enhanced defense against Pneumocystis carinii mediated by a novel dectin-1 receptor Fc fusion protein

J. Vockley, J. Kolls, E. Goetzman, 2007, The Journal of Immunology.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Marni J. Falk, Kathryn M. Camp, L. Wolfe, 2016, Molecular genetics and metabolism.

Follistatin‐like protein 1 enhances NLRP3 inflammasome‐mediated IL‐1β secretion from monocytes and macrophages

J. Kellum, Yudong Wang, J. Vockley, 2014, European journal of immunology.

Functional role of the active site glutamate-368 in rat short chain acyl-CoA dehydrogenase.

J. Vockley, K. Battaile, A. Mohsen, 1996, Biochemistry.

Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism.

J. Vockley, M. He, E. Goetzman, 2006, Molecular genetics and metabolism.

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

J. Vockley, A. Mohsen, D. Cuebas, 2012, Molecular genetics and metabolism.

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.

J. Vockley, B. Burton, N. Longo, 2017, Molecular genetics and metabolism.

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.

J. Vockley, D. Marsden, E. McCracken, 2015, Molecular genetics and metabolism.

2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism

J. Vockley, R. Steiner, R. Schutgens, 2000, Pediatric Research.

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

C. Ross, W. Wasserman, A. V. van Kuilenburg, 2018, Human mutation.

Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders

O. Schilling, J. Vockley, J. Hagenbuchner, 2021, International journal of molecular sciences.

Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

D Matern, P A Wood, J R Lindsey, 2001, Human molecular genetics.

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

J. Vockley, Yuxun Zhang, E. Goetzman, 2019, Analytical biochemistry.

Mechanism-based Inactivation of Human Glutaryl-CoA Dehydrogenase by 2-Pentynoyl-CoA

J. Vockley, K. S. Rao, F. Frerman, 2003, Journal of Biological Chemistry.

Abnormal lipid processing but normal long-term repopulation potential of myc−/− hepatocytes

Ying Ding, E. Prochownik, J. Vockley, 2016, Oncotarget.

Nonmitochondrial Metabolic Cardioskeletal Myopathies

J. Vockley, A. El-gharbawy, A. El-Gharbawy, 2017 .

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

E. Leshinsky‐Silver, D. Lev, J. Vockley, 2008, Molecular genetics and metabolism.

A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.

S. Dimauro, C. Berlin, B. Keats, 2003, Neuromuscular Disorders.

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

J. Vockley, G. Mazariegos, Robert H. Squires, 2019, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Liver transplant for inherited metabolic disease among siblings

K. Strauss, J. Vockley, G. Mazariegos, 2020, Clinical transplantation.

DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria.

James Lyons-Weiler, J. Vockley, S. Dobrowolski, 2016, Molecular genetics and metabolism.

Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency

P. Wipf, B. Van Houten, J. Vockley, 2018, Scientific Reports.

Metabolism as a complex genetic trait, a systems biology approach: Implications for inborn errors of metabolism and clinical diseases

J. Vockley, 2008, Journal of Inherited Metabolic Disease.

Altered DNA methylation in PAH deficient phenylketonuria.

James Lyons-Weiler, J. Vockley, S. Dobrowolski, 2015, Molecular genetics and metabolism.

Leaky beta-oxidation of a trans-fatty acid: incomplete beta-oxidation of elaidic acid is due to the accumulation of 5-trans-tetradecenoyl-CoA and its hydrolysis and conversion to 5-trans-tetradecenoylcarnitine in the matrix of rat mitochondria.

J. Vockley, H. Schulz, R. Ensenauer, 2004, The Journal of biological chemistry.

Cryptic duplication of 12q24.33 → qter in a child with Angelman syndrome—simultaneous occurrence of two unrelated cytogenetic events

U. Surti, J. Vockley, J. Bedoyan, 2007, American journal of medical genetics. Part A.

Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly

J. Vockley, Z. Fu, Jung‐Ja P. Kim, 2021, iScience.

The crystal structure of human very‐long‐chain acyl‐CoA dehydrogenase

Yudong Wang, J. Vockley, M. He, 2007 .

In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector.

J. Vockley, D. Matern, D. Schowalter, 2005, Molecular genetics and metabolism.

Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family.

R. Milos, R. Rozen, J. Vockley, 1994, Genomics.

Sandrow syndrome of mirror hands and feet and facial abnormalities.

J. Vockley, A. Teebi, N. Kogekar, 1993, American journal of medical genetics.

Lysine acylation causes collateral damage in inborn errors of metabolism

J. Vockley, E. Goetzman, 2022, Science Translational Medicine.

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle

K. Gernert, L. Wolfe, J. Vockley, 2010, Journal of Inherited Metabolic Disease.

Very long chain fatty acid metabolism is required in acute myeloid leukemia.

Tariq A. Akhtar, M. Minden, J. Vockley, 2021, Blood.

Mammalian Electron Transferring Flavoprotein·Flavoprotein Dehydrogenase Complexes Observed by Microelectrospray Ionization-Mass Spectrometry and Surface Plasmon Resonance*

Linda Benson, Jerry Vockley, L. Benson, 2004, Journal of Biological Chemistry.

Microelectrospray ionization analysis of noncovalent interactions within the electron transferring flavoprotein.

L. Benson, Stephen Naylor, J. Vockley, 2001, Biochemical and biophysical research communications.

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia

G. Raymond, L. Wolfe, J. Vockley, 2008, Journal of Inherited Metabolic Disease.

Development and characterization of a mouse model for Acad9 deficiency.

Yudong Wang, J. Vockley, Yijen L. Wu, 2021, Molecular genetics and metabolism.

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

J. Vockley, R. Haas, A. Goldstein, 2020, Journal of cachexia, sarcopenia and muscle.

Peroxisome proliferator-activated receptor (PPAR) agonists as a potential therapy for inherited metabolic disorders.

J. Vockley, G. Leipnitz, B. Seminotti, 2023, Biochemical pharmacology.

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

Shengfang Jin, J. Vockley, David A. Pirman, 2019, Molecular genetics and metabolism.

Natural history of propionic acidemia in the Amish population

J. Vockley, Z. Ammous, C. Walsh Vockley, 2022, Molecular genetics and metabolism reports.

Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.

Susan A. Jones, M. Durkin, J. Vockley, 2013, Molecular genetics and metabolism.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

J. Charrow, Ayesha Ahmad, J. Vockley, 2007, Genetics in Medicine.

Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.

G. Enns, J. Vockley, C. Bedrosian, 2022, Molecular genetics and metabolism.

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

J. Vockley, S. Adams, D. Matern, 2016, Journal of Inherited Metabolic Disease.

Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs).

J. DeLany, J. Vockley, M. Gillingham, 2022, Molecular Genetics and Metabolism.

Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase

J. Vockley, S. Ghisla, M. Mack, 2019, JIMD reports.

Hmong Population by Newborn Screening Using Tandem Mass Spectrometry Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the

B. Andresen, J. Vockley, P. Rinaldo, 2005 .

Metabolomic Profiling of Fatty Acid and Amino Acid Metabolism in Youth With Obesity and Type 2 Diabetes

SoJung Lee, J. Vockley, D. Chace, 2012, Diabetes Care.

Long-chain Acyl-CoA Dehydrogenase Deficiency as a Cause of Pulmonary Surfactant Dysfunction*

Kevin J. McHugh, J. Alcorn, J. Vockley, 2014, The Journal of Biological Chemistry.

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

J. Vockley, A. Mohsen, 2015, Biochimie.

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders

J. Vockley, S. Dobrowolski, A. Mohsen, 2021, Frontiers in Genetics.

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

J. Vockley, 2020, The American journal of managed care.

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

J. Vockley, N. Gregersen, J. Palmfeldt, 2016, Biochemistry and biophysics reports.

Dietary management and major clinical events in patients with longchain fatty acid oxidation disorders enrolled in a phase 2 triheptanoin study

J. Vockley, N. Longo, Yunming Mu, 2020, Clinical nutrition ESPEN.

Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

The Use of External Controls in FDA Regulatory Decision Making

V. Miller, J. Vockley, A. Ndu, 2021, Therapeutic Innovation & Regulatory Science.

Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys

P. Wipf, J. Vockley, Y. L. Phua, 2023, Antioxidants.

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

S. Cederbaum, B. Andresen, J. Vockley, 2002, Molecular genetics and metabolism.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

Therapies in inborn errors of oxidative metabolism

P. Bénit, H. Jacobs, P. Rustin, 2012, Trends in Endocrinology & Metabolism.

View from inside: Rare diseases in the times of COVID19

J. Vockley, 2020, Journal of inherited metabolic disease.

Potential Misdiagnosis of 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Associated With Absent or Trace Urinary 3-Methylcrotonylglycine

M. Baumgartner, T. Suormala, L. Wolfe, 2007, Pediatrics.

Identification of Caenorhabditis elegans isovaleryl-CoA dehydrogenase and structural comparison with other acyl-CoA dehydrogenases.

J. Vockley, A. Mohsen, B. Navarette, 2001, Molecular genetics and metabolism.

Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase.

J. Vockley, A. Mohsen, 1995, Biochemistry.

Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability.

J. Vockley, I. Jelesarov, I. Nasser, 2004, Biochimica et biophysica acta.

Whole‐genome sequencing holds the key to the success of gene‐targeted therapies

T. Yu, J. Vockley, Annemieke Aartsma-Rus, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

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

J. Carcillo, J. Vockley, K. Kernan, 2019, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

Convergent Evolution of a 2-Methylbutyryl-CoA Dehydrogenase from Isovaleryl-CoA Dehydrogenase in Solanum tuberosum*

J. Vockley, E. Goetzman, A. Mohsen, 2005, Journal of Biological Chemistry.

Identification of the catalytic residue of human short/branched chain acyl-CoA dehydrogenase by in vitro mutagenesis.

J. Vockley, J. Willard, B. Binzak, 1998, Biochimica et biophysica acta.

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

P. Jayakar, J. Vockley, G. Diaz, 2023, Molecular genetics and metabolism.

Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases.

J. Vockley, A. Saenger, M. Stankovich, 2005, Biochemistry.

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

A. Seymour, J. Vockley, D. Lamppu, 2019, Molecular genetics and metabolism.

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders.

R. Holt, J. Vockley, N. Longo, 2018, Molecular genetics and metabolism.

Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase.

S. Cederbaum, J. Vockley, D. Christianson, 1998, Molecular genetics and metabolism.

Special Issue: The evolving role of mitochondria in metabolism

H. Jacobs, P. Rustin, J. Vockley, 2012 .

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

Laurie D. Smith, J. Vockley, Xueli Li, 2014, Biochimica et biophysica acta.

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

K. Larimore, J. Vockley, B. Burton, 2018, Orphanet Journal of Rare Diseases.

Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.

J. Ganju, J. Vockley, N. Longo, 2023, Molecular genetics and metabolism.

A proposed nosology of inborn errors of metabolism

C. Ferreira, J. Vockley, C. V. van Karnebeek, 2018, Genetics in Medicine.

Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein.

K. Tanaka, J. Vockley, I. Yokota, 1992, The Journal of biological chemistry.

Disorders of Branched-Chain Amino Acid Metabolism

J. Vockley, A. Brassier, M. Schiff, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Metabolomic Profiling of Fatty Acid and Amino AcidMetabolism in YouthWith Obesity and Type 2 Diabetes Evidence for enhanced mitochondrial oxidation

Donald, Arslanian, R., 2012 .

Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.

B. Gower, P. A. Wood, J. Vockley, 2005, Molecular genetics and metabolism.

"Pseudomosaicism" for 4p- in amniotic fluid cell culture proven to be true mosaicism after birth.

J. Vockley, W. R. Breg, T. Yang-Feng, 1991, American journal of medical genetics.

Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study

W. S. Denney, J. Vockley, S. Sacharow, 2022, Nature Metabolism.

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.

J. Ellison, J. Vockley, B. Powell, 2010, Molecular genetics and metabolism.

Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R

J. Vockley, R. McAndrew, Jjp Kim, 2008, Journal of Inherited Metabolic Disease.

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

J. Vockley, S. Dobrowolski, K. Pappan, 2020, Molecular genetics and metabolism.

Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme.

J. Vockley, D. Babovic‐Vuksanovic, N. Gregersen, 2002, Biochemistry.

Three dimensional structures of acyl-CoA dehydrogenases: Structural basis of substrate specificity

J. Vockley, S. Djordjević, M. Wang, 1994 .

Cloning of a cDNA for short/branched chain acyl-Coenzyme A dehydrogenase from rat and characterization of its tissue expression and substrate specificity.

R. Rozen, J. Vockley, P. V. Van Veldhoven, 1996, Archives of biochemistry and biophysics.

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.

P. Giangrande, L. Rice, J. Vockley, 2022, Molecular genetics and metabolism.

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

E. Bertini, M. Tarnopolsky, G. Enns, 2023, Neurology.

Myelin Disruption, Neuroinflammation, and Oxidative Stress Induced by Sulfite in the Striatum of Rats Are Mitigated by the pan-PPAR agonist Bezafibrate

J. Vockley, G. Leipnitz, B. Seminotti, 2023, Cells.

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

M. Marino, S. Cederbaum, J. Vockley, 2014, Genetics in Medicine.

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.

Jill L. Maron, S. Kingsmore, L. Trinquart, 2023, JAMA.

Loss of the mitochondrial citrate carrier, Slc25a1/CIC disrupts embryogenesis via 2-Hydroxyglutarate

J. Vockley, M. Avantaggiati, A. Cheema, 2023, bioRxiv.

Response to Letter to the editor

J. Vockley, M. Gillingham, C. Harding, 2019, Journal of Inherited Metabolic Disease.

Identification of the molecular defects responsible for the various genotypes of isovaleric acidemia.

J. Vockley, K. Tanaka, B. Parimoo, 1992, Progress in clinical and biological research.

Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications.

M. Tuchman, M. Seashore, J. Vockley, 1992, Biochemical medicine and metabolic biology.

Introduction: Neurodevelopmental issues in inborn errors of metabolism.

J. Vockley, G. Arnold, 2013, Developmental Disabilities Research Reviews.

GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour

J. Vockley, D. Brent, Marianne Mcguire, 2011, BMJ Case Reports.

Clinical trials: curing a critical deficiency in metabolic medicine.

J. Vockley, C. W. Vockley, 2010, Molecular genetics and metabolism.

Long-chain Acyl-CoA Dehydrogenase Deficiency as a Cause of Pulmonary Surfactant Dysfunction*

Kevin J. McHugh, J. Alcorn, J. Vockley, 2014, The Journal of Biological Chemistry.

Increased Levels of Plasma Acylcarnitines in Obesity and Type 2 Diabetes and Identification of a Marker of Glucolipotoxicity

F. Toledo, J. DeLany, B. Goodpaster, 2010, Obesity.

Liver transplantation for pediatric metabolic disease.

D. Morton, J. Vockley, B. Burton, 2014, Molecular genetics and metabolism.

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

J. Vockley, B. Burton, N. Longo, 2018, Molecular genetics and metabolism.

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

R. Holt, J. Vockley, N. Longo, 2019, Molecular genetics and metabolism.

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

M. Marino, S. Cederbaum, J. Vockley, 2015, Molecular genetics and metabolism.

Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs).

J. DeLany, J. Vockley, M. Gillingham, 2023, Molecular genetics and metabolism.

Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus

Yudong Wang, J. Vockley, C. Hoppel, 2018, Journal of Inherited Metabolic Disease.

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

S. Cederbaum, J. Vockley, N. Longo, 2014, Genetics in Medicine.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Marni J. Falk, Kathryn M. Camp, J. Vockley, 2016, Molecular genetics and metabolism.

Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study

J. Vockley, B. Burton, N. Longo, 2023, Journal of inherited metabolic disease.

Improving diagnosis of mitochondrial fatty-acid oxidation disorders

J. Vockley, N. Guffon, A. Fouilhoux, 2023, European Journal of Human Genetics.