Vockley, C. M. W.: search on Z-Library

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1

Overcoming User-Centered Challenges with Complex Health Technology

Doyle, Peter A., Vockley, Martha

Journal:

Biomedical Instrumentation & Technology

Year:

2018

Language:

english

File:

PDF, 1.22 MB

english, 2018

2

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

Vockley, J., Burton, B., Berry, G.T., Longo, N., Phillips, J., Sanchez-Valle, A., Tanpaiboon, P., Grunewald, S., Murphy, E., Humphrey, R., Mayhew, J., Bowden, A., Zhang, L., Cataldo, J., Marsden, D.L.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 794 KB

english, 2017

3

Inborn Errors of Metabolism with Myopathy

El-Gharbawy, Areeg, Vockley, Jerry

Journal:

Pediatric Clinics of North America

Year:

2017

Language:

english

File:

PDF, 667 KB

english, 2017

4

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

Garver, W. S., Jelinek, D., Meaney, F. J., Flynn, J., Pettit, K. M., Shepherd, G., Heidenreich, R. A., Vockley, C. M. W., Castro, G., Francis, G. A.

Journal:

The Journal of Lipid Research

Year:

2010

Language:

english

File:

PDF, 581 KB

english, 2010

5

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

Year:

2019

Language:

english

File:

PDF, 804 KB

english, 2019

6

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:

Year:

2015

Language:

english

File:

PDF, 77 KB

english, 2015

7

All Charged Up: The Many Challenges of Battery Maintenance

Vockley, Martha

Journal:

Biomedical Instrumentation & Technology

Year:

2014

Language:

english

File:

PDF, 4.32 MB

english, 2014

8

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

Year:

2018

Language:

english

File:

PDF, 901 KB

english, 2018

9

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

Year:

2000

Language:

english

File:

PDF, 62 KB

english, 2000

10

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population

Tein, Ingrid, Elpeleg, Orly, Ben-Zeev, Bruria, Korman, Stanley H., Lossos, Alexander, Lev, Dorit, Lerman-Sagie, Tally, Vockley, Gerard, Berry, Gerard T., Lamhownah, Anne-Marie, Matern, Dieter, Roe, Ch

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 15 KB

english, 2007

11

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

Year:

2012

Language:

english

File:

PDF, 226 KB

english, 2012

12

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

Year:

2008

Language:

english

File:

PDF, 177 KB

english, 2008

13

Diagnosis and treatment of cancer using genomics

Vockley, J. G., Niederhuber, J. E.

Journal:

Year:

2015

Language:

english

File:

PDF, 619 KB

english, 2015

14

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:

Year:

2018

Language:

english

File:

PDF, 445 KB

english, 2018

15

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

Year:

2001

Language:

english

File:

PDF, 42 KB

english, 2001

16

Wonder Women: A New Type of Healthcare Technology Professional

Vockley, Martha

Journal:

Biomedical Instrumentation & Technology

Year:

2018

Language:

english

File:

PDF, 2.12 MB

english, 2018

17

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:

Year:

2011

Language:

english

File:

PDF, 58 KB

english, 2011

18

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

Wolfe, L. A., Finegold, D. N., Vockley, J., Walters, N., Chambaz, C., Suormala, T., Koch, H. G., Matern, D., Barshop, B. A., Cropcho, L. J., Baumgartner, M. R., Gibson, K. M.

Journal:

Year:

2007

Language:

english

File:

PDF, 276 KB

english, 2007

19

Direct GR Binding Sites Potentiate Clusters of TF Binding across the Human Genome

Vockley, Christopher M., D’Ippolito, Anthony M., McDowell, Ian C., Majoros, William H., Safi, Alexias, Song, Lingyun, Crawford, Gregory E., Reddy, Timothy E.

Journal:

Year:

2016

Language:

english

File:

PDF, 16.23 MB

english, 2016

20

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

Year:

2007

Language:

english

File:

PDF, 658 KB

english, 2007

21

Triheptanoin therapy for inherited disorders of fatty acid oxidation

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

Journal:

Year:

2012

Language:

english

File:

PDF, 65 KB

english, 2012

22

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

Year:

2013

Language:

english

File:

PDF, 1.85 MB

english, 2013

23

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

Year:

2019

Language:

english

File:

PDF, 2.71 MB

english, 2019

24

Clinical trials examining treatments for inborn errors of amino acid metabolism

Goldstein, Amy, Vockley, Jerry

Journal:

Expert Opinion on Orphan Drugs

Year:

2017

Language:

english

File:

PDF, 1.07 MB

english, 2017

25

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

Year:

2012

Language:

english

File:

PDF, 294 KB

english, 2012

26

Carnitine

Odle, J., Adams, S. H., Vockley, J.

Journal:

Advances in Nutrition: An International Review Journal

Year:

2014

Language:

english

File:

PDF, 552 KB

english, 2014

27

RNA-guided gene activation by CRISPR-Cas9–based transcription factors

Perez-Pinera, Pablo, Kocak, D Dewran, Vockley, Christopher M, Adler, Andrew F, Kabadi, Ami M, Polstein, Lauren R, Thakore, Pratiksha I, Glass, Katherine A, Ousterout, David G, Leong, Kam W, Guilak, Fa

Journal:

Year:

2013

Language:

english

File:

PDF, 453 KB

english, 2013

28

Epigenome editing by a CRISPR-Cas9-based acetyltransferase activates genes from promoters and enhancers

Hilton, Isaac B, D'Ippolito, Anthony M, Vockley, Christopher M, Thakore, Pratiksha I, Crawford, Gregory E, Reddy, Timothy E, Gersbach, Charles A

Journal:

Nature Biotechnology

Year:

2015

Language:

english

File:

PDF, 1.19 MB

english, 2015

29

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1

Walter D. Park, John F. O'Brien, Patrick A. Lundquist, Daniel L. Kraft, Cate Walsh Vockley, Pamela S. Karnes, Marc C. Patterson, Karen Snow

Journal:

Year:

2003

Language:

english

File:

PDF, 255 KB

english, 2003

30

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:

Year:

2015

Language:

english

File:

PDF, 46 KB

english, 2015

31

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

Year:

1995

Language:

english

File:

PDF, 454 KB

english, 1995

32

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

Year:

2004

Language:

english

File:

PDF, 941 KB

english, 2004

33

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

Year:

2006

Language:

english

File:

PDF, 473 KB

english, 2006

34

Thoroughly modern medicine

Georgianne L. Arnold, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 187 KB

english, 2011

35

Clinical trials: Curing a critical deficiency in metabolic medicine

Jerry Vockley, Catherine M. Walsh Vockley

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 115 KB

english, 2010

36

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

Wolfe, Lynne A., He, Miao, Vockley, Jerry, Payne, Nicole, Rhead, William, Hoppel, Charles, Spector, Elaine, Gernert, Kim, Gibson, K. Michael

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 321 KB

english, 2010

37

Thermodynamic Regulation of Human Short-Chain Acyl-CoA Dehydrogenase by Substrate and Product Binding †

Saenger, Amy K., Nguyen, Tien V., Vockley, Jerry, Stankovich, Marian T.

Journal:

Year:

2005

Language:

english

File:

PDF, 151 KB

english, 2005

38

Purification and Characterization of Two Polymorphic Variants of Short Chain Acyl-CoA Dehydrogenase Reveal Reduction of Catalytic Activity and Stability of the Gly185Ser Enzyme †

Nguyen, Tien V., Riggs, Charles, Babovic-Vuksanovic, Dusica, Kim, Yong-Sung, Carpenter, John F., Burghardt, Thomas P., Gregersen, Niels, Vockley, Jerry

Journal:

Year:

2002

Language:

english

File:

PDF, 192 KB

english, 2002

39

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

Sarin, M, Wang, Y, Zhang, F, Rothermund, K, Zhang, Y, Lu, J, Sims-Lucas, S, Beer-Stolz, D, Van Houten, B E, Vockley, J, Goetzman, E S, Anthony Graves, J, Prochownik, E V

Journal:

Cell Death and Disease

Year:

2013

Language:

english

File:

PDF, 2.00 MB

english, 2013

40

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

Rapaka, R. R., Goetzman, E. S., Zheng, M., Vockley, J., McKinley, L., Kolls, J. K., Steele, C.

Journal:

The Journal of Immunology

Year:

2007

Language:

english

File:

PDF, 1.12 MB

english, 2007

41

Detection and characterization of silencers and enhancer-blockers in the greater CFTR locus

Petrykowska, H. M., Vockley, C. M., Elnitski, L.

Journal:

Genome Research

Year:

2008

Language:

english

File:

PDF, 1.16 MB

english, 2008

42

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

Vockley, Jerry, Marsden, Deborah, McCracken, Elizabeth, DeWard, Stephanie, Barone, Amanda, Hsu, Kristen, Kakkis, Emil

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

43

Glucocorticoid receptor recruits to enhancers and drives activation by motif-directed binding

McDowell, Ian C., Barrera, Alejandro, D'Ippolito, Anthony M., Vockley, Christopher M., Hong, Linda K., Leichter, Sarah M., Bartelt, Luke C., Majoros, William H., Song, Lingyun, Safi, Alexias, Koçak, D

Journal:

Genome Research

Year:

2018

Language:

english

File:

PDF, 2.98 MB

english, 2018

44

Identification of differentially expressed genes in hepatocellular carcinoma and metastatic liver tumors by oligonucleotide expression profiling

Darci Tackels-Horne, M. David Goodman, Amanda J. Williams, Daniel J. Wilson, Tara Eskandari, Lisa M. Vogt, Joseph F. Boland, Uwe Scherf, Joseph G. Vockley

Journal:

Year:

2001

Language:

english

File:

PDF, 343 KB

english, 2001

45

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

Year:

2011

Language:

english

File:

PDF, 349 KB

english, 2011

46

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

Year:

2006

Language:

english

File:

PDF, 416 KB

english, 2006

47

In Memoriam

Piero Rinaldo, Paul M. Coates, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 111 KB

english, 2005

48

Short-chain acyl-coenzyme A dehydrogenase deficiency

Reena Jethva, Michael J. Bennett, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 168 KB

english, 2008

49

Identification and characterization of new long chain Acyl-CoA dehydrogenases

Miao He, Zhengtong Pei, Al-Walid Mohsen, Paul Watkins, Geoffrey Murdoch, Paul P. Van Veldhoven, Regina Ensenauer, Jerry Vockley

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 2.08 MB

english, 2011

50

Biochemical and Electrochemical Characterization of Two Variant Human Short-Chain Acyl-CoA Dehydrogenases †

Saenger, Amy K., Nguyen, Tien V., Vockley, Jerry, Stankovich, Marian T.

Journal:

Year:

2005

Language:

english

File:

PDF, 170 KB

english, 2005

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