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

Lisa R. Mattson, Noralane M. Lindor, Deborah H. Goldman, Jeffrey T. Goodwin, Robert V. Groover, Jerry Vockley

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 454 KB

english, 1995

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

Ina Knerr, Natalie Weinhold, Jerry Vockley, K. Michael Gibson

Journal:

Journal of Inherited Metabolic Disease

Année:

2012

Langue:

english

Fichier:

PDF, 226 KB

english, 2012

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

Sarah C Grünert, Udo Wendel, Martin Lindner, Michael Leichsenring, K Otfried Schwab, Jerry Vockley, Willy Lehnert, Regina Ensenauer

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 294 KB

english, 2012

Synergistic Heterozygosity: Disease Resulting from Multiple Partial Defects in One or More Metabolic Pathways

Jerry Vockley, Piero Rinaldo, Michael J. Bennett, Dietrich Matern, Georgirene D. Vladutiu

Journal:

Molecular Genetics and Metabolism

Année:

2000

Langue:

english

Fichier:

PDF, 62 KB

english, 2000

Evidence for the physical association of mitochondrial fatty acid oxidation and oxidative phosphorylation complexes

Yudong Wang⁎, Al-Walid Mohsen, Stephanie Mihalik, Eric Goetzman, Jerry Vockley

Journal:

Mitochondrion

Année:

2011

Langue:

english

Fichier:

PDF, 58 KB

english, 2011

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

Ingrid Tein, Orly Elpeleg, Bruria Ben-Zeev, Stanley H. Korman, Alexander Lossos, Dorit Lev, Tally Lerman-Sagie, Esther Leshinsky-Silver, Jerry Vockley, Gerard T. Berry, Anne-Marie Lamhonwah, Dietrich

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 177 KB

english, 2008

Triheptanoin therapy for inherited disorders of fatty acid oxidation

Amy Goldstein, Amanda R. Barone, Stephanie J. DeWard, Nicole Payne, Jerry Vockley

Journal:

Mitochondrion

Année:

2012

Langue:

english

Fichier:

PDF, 65 KB

english, 2012

Emery and Rimoin's Principles and Practice of Medical Genetics || Organic Acidemias and Disorders of Fatty Acid Oxidation

Vockley, Jerry

Année:

2013

Langue:

english

Fichier:

PDF, 1.85 MB

english, 2013

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

Oglesbee, Devin, He, Miao, Majumder, Nilanjana, Vockley, Jerry, Ahmad, Ayesha, Angle, Brad, Burton, Barbara, Charrow, Joel, Ensenauer, Regina, Ficicioglu, Can H, Keppen, Laura Davis, Marsden, Deborah,

Journal:

Genetics in Medicine

Année:

2007

Langue:

english

Fichier:

PDF, 658 KB

english, 2007

Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

Juhl Corydon, Morten, Vockley, Jerry, Rinaldo, Piero, James Rhead, William, Kjeldsen, Margrethe, Winter, Vibeke, Riggs, Charles, Babovic-Vuksanovic, Dusica, Smeitink, Jan, De Jong, Jan, Levy, Harvey,

Journal:

Pediatric Research

Année:

2001

Langue:

english

Fichier:

PDF, 42 KB

english, 2001

LARS mutations in non-Irish travelers: An under-recognized multi-system disorder characterized by infantile hepatopathy during physiological stress

El-Gharbawy, Areeg, Sebastian, Jessica, Ghaloul-Gonzalez, Lina, Mroczkowski, Joel, Goldstein, Amy, Venkat, Veena, Dobrowolski, Steve, Squires, Robert, Vockley, Jerry

Journal:

Mitochondrion

Année:

2015

Langue:

english

Fichier:

PDF, 77 KB

english, 2015

Mitochondrial respiratory chain disorders in the old order Amish population

Goldstein, Amy, Ghaloul-Gonzalez, Lina, Dobrowolski, Steven, Vockley, Cate Walsh, Irani, Afifa, Wayburn, Bess, Holmes Morton, D., Vockley, Jerry

Journal:

Mitochondrion

Année:

2015

Langue:

english

Fichier:

PDF, 46 KB

english, 2015

Clinical trials examining treatments for inborn errors of amino acid metabolism

Goldstein, Amy, Vockley, Jerry

Journal:

Expert Opinion on Orphan Drugs

Année:

2017

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2017

Inborn Errors of Metabolism with Myopathy

El-Gharbawy, Areeg, Vockley, Jerry

Journal:

Pediatric Clinics of North America

Année:

2017

Langue:

english

Fichier:

PDF, 667 KB

english, 2017

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

Karaa, Amel, Haas, Richard, Goldstein, Amy, Vockley, Jerry, Weaver, W. Douglas, Cohen, Bruce H.

Journal:

Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 445 KB

english, 2018

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

Longo, Nicola, Zori, Roberto, Wasserstein, Melissa P., Vockley, Jerry, Burton, Barbara K., Decker, Celeste, Li, Mingjin, Lau, Kelly, Jiang, Joy, Larimore, Kevin, Thomas, Janet A.

Journal:

Orphanet Journal of Rare Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 901 KB

english, 2018

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

McCalley, Stephen, Pirman, David, Clasquin, Michelle, Johnson, Kendall, Jin, Shengfang, Vockley, Jerry

Journal:

Molecular Genetics and Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 804 KB

english, 2019

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

Grings, Mateus, Seminotti, Bianca, Karunanidhi, Anuradha, Ghaloul-Gonzalez, Lina, Mohsen, Al-Walid, Wipf, Peter, Palmfeldt, Johan, Vockley, Jerry, Leipnitz, Guilhian

Journal:

Scientific Reports

Année:

2019

Langue:

english

Fichier:

PDF, 2.71 MB

english, 2019

Sandrow syndrome of mirror hands and feet and facial abnormalities

Nandini Kogekar, Ahmad S. Teebi, Dr. Jerry Vockley

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 259 KB

english, 1993

Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication

Craig Horbinski, Erika M. Carter, Patricia L. Heard, Malini Sathanoori, Jie Hu, Jerry Vockley, Shelly Gunn, Daniel E. Hale, Urvashi Surti, Jannine D. Cody

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 264 KB

english, 2008

Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity

Jerry Vockley, Regina Ensenauer

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 189 KB

english, 2006

Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice

Stuart G. Beattie, Eric Goetzman, Qiuishi Tang, Thomas Conlon, Martha Campbell-Thompson, Dietrich Matern, Jerry Vockley, Terence R. Flotte

Journal:

The Journal of Gene Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 3.31 MB

english, 2008

Trading places: Liver transplantation as a treatment, not a cure, for metabolic liver disease

Benjamin L. Shneider, Jerry Vockley, George V. Mazariegos

Journal:

Liver Transplantation

Année:

2011

Langue:

english

Fichier:

PDF, 61 KB

english, 2011

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

Srikanth Dakoji, Injae Shin, Kevin P. Battaile, Jerry Vockley, Hung-wen Liu

Journal:

Bioorganic & Medicinal Chemistry

Année:

1997

Langue:

english

Fichier:

PDF, 733 KB

english, 1997

Acyl-CoA Dehydrogenases: Dynamic History of Protein Family Evolution

Zuzana Swigoňová, Al-Walid Mohsen, Jerry Vockley

Journal:

Journal of Molecular Evolution

Année:

2009

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2009

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

Jerry Vockley

Journal:

Journal of Inherited Metabolic Disease

Année:

2008

Langue:

english

Fichier:

PDF, 579 KB

english, 2008

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

Stephanie J. Mihalik, Bret H. Goodpaster, David E. Kelley, Donald H. Chace, Jerry Vockley, Frederico G.S. Toledo, James P. DeLany

Journal:

Obesity

Année:

2010

Langue:

english

Fichier:

PDF, 165 KB

english, 2010

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

Jerry Vockley, Catherine M.Walsh Vockley, Shaun-Pei Lin, Mendel Tuchman, Tzee-Chung Wu, Ching-Yuang Lin, Margretta R. Seashore

Journal:

Biochemical Medicine and Metabolic Biology

Année:

1992

Langue:

english

Fichier:

PDF, 6.13 MB

english, 1992

Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up in 37 Patients and Comparative United Network for Organ Sharing Experience

George V. Mazariegos, D. Holmes Morton, Rakesh Sindhi, Kyle Soltys, Navdeep Nayyar, Geoffrey Bond, Diana Shellmer, Benjamin Shneider, Jerry Vockley, Kevin A. Strauss

Journal:

The Journal of Pediatrics

Année:

2012

Langue:

english

Fichier:

PDF, 490 KB

english, 2012

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

Barbara Binzak, Jan Willard, Jerry Vockley

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Année:

1998

Langue:

english

Fichier:

PDF, 204 KB

english, 1998

Cloning of a cDNA for Short/Branched Chain Acyl-Coenzyme A Dehydrogenase from Rat and Characterization of Its Tissue Expression and Substrate Specificity

Jan Willard, Caroline Vicanek, Kevin P. Battaile, Paul P. Van Veldhoven, Abdul H. Fauq, Rima Rozen, Jerry Vockley

Journal:

Archives of Biochemistry and Biophysics

Année:

1996

Langue:

english

Fichier:

PDF, 280 KB

english, 1996

Microelectrospray Ionization Analysis of Noncovalent Interactions within the Electron Transferring Flavoprotein

Heidi M. Hoard, Linda M. Benson, Jerry Vockley, Stephen Naylor

Journal:

Biochemical and Biophysical Research Communications

Année:

2001

Langue:

english

Fichier:

PDF, 126 KB

english, 2001

Isolation and Expression of a cDNA Encoding the Precursor for a Novel Member (ACADSB) of the Acyl-CoA Dehydrogenase Gene Family

Rima Rozen, Jerry Vockley, Lubing Zhou, Renate Milos, Jan Willard, Katherine Fu, Caroline Vicanek, Lawrence Low-Nang, Elena Torban, Beatrice Fournier

Journal:

Genomics

Année:

1994

Fichier:

PDF, 553 KB

1994

Structure and Analysis of the Human Dimethylglycine Dehydrogenase Gene

Barbara A. Binzak, Joseph G. Vockley, Robert B. Jenkins, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Année:

2000

Langue:

english

Fichier:

PDF, 85 KB

english, 2000

Identification of Caenorhabditis elegans Isovaleryl-CoA Dehydrogenase and Structural Comparison with Other Acyl-CoA Dehydrogenases

Al-Walid A. Mohsen, Bryan Navarette, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Année:

2001

Langue:

english

Fichier:

PDF, 440 KB

english, 2001

Arginine 387 of Human Isovaleryl-CoA Dehydrogenase Plays a Crucial Role in Substrate/Product Binding

Samuel L. Volchenboum, Al-Walid A. Mohsen, Jung-Ja P. Kim, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Année:

2001

Langue:

english

Fichier:

PDF, 284 KB

english, 2001

Epitopes of human intestinal alkaline phosphatases, defined by monoclonal antibodies

Kunal Ray, Jerry Vockley, Harry Harris

Journal:

FEBS Letters

Année:

1984

Langue:

english

Fichier:

PDF, 437 KB

english, 1984

High-level expression of an altered cDNA encoding human isovaleryl-CoA dehydrogenase in Escherichia coli

Al-Walid A. Mohsen, Jerry Vockley

Journal:

Gene

Année:

1995

Langue:

english

Fichier:

PDF, 471 KB

english, 1995

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

Ibrahim Nasser, Al-Walid Mohsen, Ilian Jelesarov, Jerry Vockley, Peter Macheroux, Sandro Ghisla

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2004

Langue:

english

Fichier:

PDF, 941 KB

english, 2004

Brown adipose tissue function in short-chain acyl-CoA dehydrogenase deficient mice

Helen Skilling, Paul M. Coen, Liane Fairfull, Robert E. Ferrell, Bret H. Goodpaster, Jerry Vockley, Eric S. Goetzman

Journal:

Biochemical and Biophysical Research Communications

Année:

2010

Langue:

english

Fichier:

PDF, 330 KB

english, 2010

Barriers to the successful treatment of liver disease by hepatocyte transplantation

Kyle A. Soltys, Alejandro Soto-Gutiérrez, Masaki Nagaya, Kevin M. Baskin, Melvin Deutsch, Ryotaro Ito, Benjamin L. Shneider, Robert Squires, Jerry Vockley, Chandan Guha, Jayanta Roy-Chowdhury, Stephen

Journal:

Journal of Hepatology

Année:

2010

Langue:

english

Fichier:

PDF, 915 KB

english, 2010

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

Houman Homayoun, Simin Khavandgar, Jacqueline M. Hoover, Al-Walid Mohsen, Jerry Vockley, David Lacomis, Paula R. Clemens

Journal:

Neuromuscular Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 349 KB

english, 2011

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

A. Michele Schuler, Barbara A. Gower, Dietrich Matern, Piero Rinaldo, Jerry Vockley, Philip A. Wood

Journal:

Molecular Genetics and Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 369 KB

english, 2005

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

David B. Schowalter, Dietrich Matern, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 817 KB

english, 2005

In Memoriam

Piero Rinaldo, Paul M. Coates, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 111 KB

english, 2005

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

Eric S. Goetzman, Miao He, Tien V. Nguyen, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 473 KB

english, 2006

In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase

J. Lawrence Merritt II, Dietrich Matern, Jerry Vockley, Jan Daniels, Tien V. Nguyen, David B. Schowalter

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 416 KB

english, 2006

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia

Yong-Wha Lee, Dong Hwan Lee, Jerry Vockley, Nam-Doo Kim, You Kyoung Lee, Chang-Seok Ki

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2007

Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system

Eric S. Goetzman, Yudong Wang, Miao He, Al-Walid Mohsen, Brittani K. Ninness, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2007

Newborn screening: After the thrill is gone

Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 148 KB

english, 2007