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1

Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy

G. Diane Shelton, William L. Nyhan, Philip H. Kass, Bruce A. Barshop, Richard H. Haas

Journal:

Year:

1998

Language:

english

File:

PDF, 224 KB

english, 1998

2

Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate

Liesbeth Spruijt, Robert K. Naviaux, Karen A. McGowan, William L. Nyhan, Geoffrey Sheean, Richard H. Haas, Bruce A. Barshop

Journal:

Year:

2001

Language:

english

File:

PDF, 252 KB

english, 2001

3

Atlas of Inherited Metabolic Diseases 3E || Short-chain acyl CoA dehydrogenase deficiency

Nyhan, William, Barshop, Bruce, Al-Aqeel, Aida

Year:

2011

Language:

english

File:

PDF, 220 KB

english, 2011

4

Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome

Robert K. Naviaux, William L. Nyhan, Bruce A. Barshop, Joanna Poulton, David Markusic, Nancy C. Karpinski, Richard H. Haas

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 130 KB

english, 1999

5

Duplication of 16q and deletion of 15q

Dr. William L. Nyhan, James Mascarello, Bruce Barshop, Diane Doroski, Kurt Hirschhorn

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 451 KB

english, 1989

6

Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin

Bruce A. Barshop, Jon Wolff, Dr. William L. Nyhan, Alice Yu, Christina Prodanos, Gilbert Jones, Lawrence Sweetman, Jack Leslie, Jan Holm, Ralph Green, Donald W. Jacobsen, Bernard A. Cooper, David Rose

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 730 KB

english, 1990

7

Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study

David F. Moore, Frank Ye, Marie-Luise Brennan, Surya Gupta, Bruce A. Barshop, Robert D. Steiner, William J. Rhead, Roscoe O. Brady, Stanley L. Hazen, Raphael Schiffmann

Journal:

Journal of Magnetic Resonance Imaging

Year:

2004

Language:

english

File:

PDF, 825 KB

english, 2004

8

Domino liver transplantation in maple syrup urine disease

Ajai Khanna, Marquis Hart, William L. Nyhan, Tarek Hassanein, Janice Panyard-Davis, Bruce A. Barshop

Journal:

Liver Transplantation

Year:

2006

Language:

english

File:

PDF, 290 KB

english, 2006

9

Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation

Deborah Marsden, William L. Nyhan, Bruce A. Barshop

Journal:

European Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 84 KB

english, 2001

10

Kearns–Sayre Syndrome Presenting as 2-Oxoadipic Aciduria

Bruce A. Barshop, William L. Nyhan, Robert K. Naviaux, Karen A. McGowan, Martin Friedlander, Richard H. Haas

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 62 KB

english, 2000

11

Chronic treatment of mitochondrial disease patients with dichloroacetate

Bruce A. Barshop, Robert K. Naviaux, Karen A. McGowan, Fred Levine, William L. Nyhan, Amalia Loupis-Geller, Richard H. Haas

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 909 KB

english, 2004

12

Erratum to “Pyruvate carboxylase deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]

William L. Nyhan, Ajai Khanna, Bruce A. Barshop, Robert K. Naviaux, Andrew F. Precht, Joel E. Levine, Marquis A. Hart, Bryan E. Hainline, Rebecca S. Wappner, Sharon Nichols, Richard D. Haas

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 79 KB

english, 2006

13

Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria

Khue Vu Nguyen, Robert K. Naviaux, Satyajit Patra, Bruce A. Barshop, William L. Nyhan

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 379 KB

english, 2011

14

POM-001 Phase 1/2 Study of BMN 701, GILT-tagged Recombinant Human (rh) GAA in Late-Onset Pompe Disease: Preliminary Report

Barry Byrne, Bruce Barshop, Richard Barohn, Lindsay Falk, Michael Fox, William Lang, Michelle Lossius, Sean McCarthy, Jayesh Vora, Jonathon LeBowitz

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

15

Fructo-oligosaccharide tolerance in patients with hereditary fructose intolerance. A preliminary nonrandomized open challenge short-term study

Bruce A. Barshop, William L. Nyhan, Philippe H. Steenhout, Wolf Endres, Dean R. Tolan, Roger A. Clemens

Journal:

Nutrition Research

Year:

2003

Language:

english

File:

PDF, 160 KB

english, 2003

16

Pyruvate carboxylase deficiency—insights from liver transplantation

William L Nyhan, Ajai Khanna, Bruce A Barshop, Robert K Naviaux, Andrew F Precht, Joel E Lavine, Marquis A Hart, Bryan E Hainline, Rebecca S Wappner, Sharon Nichols, Richard H Haas

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

17

POM-001 phase 1/2 study of BMN 701, GILT-tagged recombinant human (rh) GAA in late-onset Pompe disease: Initial experience in 22 patients

Byrne, Barry, Barohn, Richard, Barshop, Bruce, Bratkovic, Drago, Desnuelle, Claude, Geberhiwot, Tarekegn, Hughes, Derralynn, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Lang, William, LeBowitz, Jon

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 62 KB

english, 2013

18

Editorial Board

Byrne, Barry, Barohn, Richard, Barshop, Bruce, Bratkovic, Drago, Desnuelle, Claude, Henderson, Robert, Hiwot, Tarekegn, Hughes, Derralynn, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Lang, William,

Journal:

Arthroscopy: The Journal of Arthroscopic & Related Surgery

Year:

1987

Language:

english

File:

PDF, 51 KB

english, 1987

19

Preliminary clinical efficacy and safety of BMN 701, GILT-tagged recombinant human acid alpha glucosidase (rhGAA), in late-onset Pompe disease: results of an extension study

Byrne, Barry, Barohn, Richard, Barshop, Bruce, Bratkovic, Drago, Desnuelle, Claude, Henderson, Robert, Hiwot, Tarekegn, Hughes, Derralynn, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Lang, William,

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 50 KB

english, 2014

20

Cysteamine Modulates Oxidative Stress and Blocks Myofibroblast Activity in CKD

Okamura, D. M., Bahrami, N. M., Ren, S., Pasichnyk, K., Williams, J. M., Gangoiti, J. A., Lopez-Guisa, J. M., Yamaguchi, I., Barshop, B. A., Duffield, J. S., Eddy, A. A.

Journal:

Journal of the American Society of Nephrology

Year:

2014

Language:

english

File:

PDF, 2.66 MB

english, 2014

21

Effects of Ascorbic Acid in Alkaptonuria: Alterations in Benzoquinone Acetic Acid and an Ontogenic Effect in Infancy

Wolff, Jon A, Barshop, Bruce, Nyhan, William L, Leslie, Jack, Seegmiller, J E, Gruber, Harry, Garst, Michael, Winter, Susan, Michals, Kimberlee, Matalon, Reuben

Journal:

Pediatric Research

Year:

1989

Language:

english

File:

PDF, 561 KB

english, 1989

22

3-Hydroxyisobutyric Aciduria: An Inborn Error of Valine Metabolism

Ko, Fang-Jong, Nyhan, William L, Wolff, Jon, Barshop, Bruce, Sweetman, Lawrence

Journal:

Pediatric Research

Year:

1991

Language:

english

File:

PDF, 346 KB

english, 1991

23

Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa

Schiffmann, Raphael, Ries, Markus, Blankenship, Derek, Nicholls, Kathy, Mehta, Atul, Clarke, Joe T.R., Steiner, Robert D., Beck, Michael, Barshop, Bruce A., Rhead, William, West, Michael, Martin, Rick

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 386 KB

english, 2013

24

Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome

Gertsman, Ilya, Gangoiti, Jon A., Nyhan, William L., Barshop, Bruce A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

25

The Blue Light-Dependent Phosphorylation of the CCE Domain Determines the Photosensitivity of Arabidopsis CRY2

Wang, Qin, Barshop, William D., Bian, Mingdi, Vashisht, Ajay A., He, Reqing, Yu, Xuhong, Liu, Bin, Nguyen, Paula, Liu, Xuanming, Zhao, Xiaoying, Wohlschlegel, James A., Lin, Chentao

Journal:

Molecular Plant

Year:

2015

Language:

english

File:

PDF, 3.47 MB

english, 2015

26

Cell Surface Proteomics Provides Insight into Stage-Specific Remodeling of the Host-Parasite Interface in Trypanosoma brucei

Shimogawa, Michelle M., Saada, Edwin A., Vashisht, Ajay A., Barshop, William D., Wohlschlegel, James A., Hill, Kent L.

Journal:

Molecular & Cellular Proteomics

Year:

2015

Language:

english

File:

PDF, 1.57 MB

english, 2015

27

Treatment of the Acute Crisis in Maple Syrup Urine Disease

Nyhan, William L., Rice-Kelts, Marylynne, Klein, Janet, Barshop, Bruce A.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1998

Language:

english

File:

PDF, 171 KB

english, 1998

28

Metabolism of 1-13C-Propionate In Vivo in Patients with Disorders of Propionate Metabolism

Barshop, Bruce A, Yoshida, Ichiro, Ajami, Alfred, Sweetman, Lawrence, Wolff, Jon A, Sweetman, Frances Ray, Prodanos, Christina, Smith, Moyra, Nyhan, William L

Journal:

Pediatric Research

Year:

1991

File:

PDF, 872 KB

1991

29

Metabolism of 1-13C-Propionate In Vivo in Patients with Disorders of Propionate Metabolism

Barshop, Bruce A, Yoshida, Ichiro, Ajami, Alfred, Sweetman, Lawrence, Wolff, Jon A, Sweetman, Frances Ray, Prodanos, Christina, Smith, Moyra, Nyhan, William L

Journal:

Pediatric Research

Year:

1991

Language:

english

File:

PDF, 872 KB

english, 1991

30

Fatal Initial Adult-Onset Presentation of Urea Cycle Defect

Lien, Jamie, Nyhan, William L., Barshop, Bruce A.

Journal:

Archives of Neurology

Year:

2007

Language:

english

File:

PDF, 58 KB

english, 2007

31

The Rhoptry Pseudokinase ROP54 Modulates Toxoplasma gondii Virulence and Host GBP2 Loading

Kim, Elliot W., Nadipuram, Santhosh M., Tetlow, Ashley L., Barshop, William D., Liu, Philip T., Wohlschlegel, James A., Bradley, Peter J., Blader, Ira J.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.52 MB

english, 2016

32

Determining the Mitochondrial Methyl Proteome in Saccharomyces cerevisiae using Heavy Methyl SILAC

Caslavka Zempel, Katelyn E, Vashisht, Ajay A., Barshop, William D., Wohlschlegel, James A., Clarke, Steven Gerard

Journal:

Journal of Proteome Research

Year:

2016

Language:

english

File:

PDF, 1.90 MB

english, 2016

33

A Functional Switch of NuRD Chromatin Remodeling Complex Subunits Regulates Mouse Cortical Development

Nitarska, Justyna, Smith, Jacob G., Sherlock, William T., Hillege, Michele M.G., Nott, Alexi, Barshop, William D., Vashisht, Ajay A., Wohlschlegel, James A., Mitter, Richard, Riccio, Antonella

Journal:

Year:

2016

Language:

english

File:

PDF, 8.74 MB

english, 2016

34

The Blue Light-Dependent Phosphorylation of the CCE Domain Determines the Photosensitivity of Arabidopsis CRY2

Wang, Qin, Barshop, William D., Bian, Mingdi, Vashisht, Ajay A., He, Reqing, Yu, Xuhong, Liu, Bin, Nguyen, Paula, Liu, Xuanming, Zhao, Xiaoying, Wohlschlegel, James A., Lin, Chentao

Journal:

Molecular Plant

Year:

2017

Language:

english

File:

PDF, 48 KB

english, 2017

35

Molecular basis for blue light-dependent phosphorylation of Arabidopsis cryptochrome 2

Liu, Qing, Wang, Qin, Deng, Weixian, Wang, Xu, Piao, Mingxin, Cai, Dawei, Li, Yaxing, Barshop, William D., Yu, Xiaolan, Zhou, Tingting, Liu, Bin, Oka, Yoshito, Wohlschlegel, James, Zuo, Zecheng, Lin,

Journal:

Nature Communications

Year:

2017

Language:

english

File:

PDF, 2.84 MB

english, 2017

36

Rectal Endoscopic Mucosal Resection is Superior to Rectal Suction Biopsy for Analysis of Enteric Ganglia in Constipation and GI Dysmotility

Barshop, Kenneth, Willingham, Field F., Brugge, William R., Kuo, Braden

Journal:

Gastroenterology

Year:

2017

Language:

english

File:

PDF, 2.82 MB

english, 2017

37

Endoscopic Mucosal Resection is Superior to Rectal Suction Biopsy for Analysis of Enteric Ganglia in Constipation and Dysmotility

Barshop, Kenneth, Willingham, Field F., Brugge, William R., Zukerberg, Lawrence R., Kuo, Braden

Journal:

Gastrointestinal Endoscopy

Year:

2017

Language:

english

File:

PDF, 1.14 MB

english, 2017

38

A DNA methylation reader complex that enhances gene transcription

Harris, C. Jake, Scheibe, Marion, Wongpalee, Somsakul Pop, Liu, Wanlu, Cornett, Evan M., Vaughan, Robert M., Li, Xueqin, Chen, Wei, Xue, Yan, Zhong, Zhenhui, Yen, Linda, Barshop, William D., Rayatpish

Journal:

Year:

2018

Language:

english

File:

PDF, 999 KB

english, 2018

39

An Oxygen-Dependent Interaction between FBXL5 and the CIA-Targeting Complex Regulates Iron Homeostasis

Mayank, Adarsh K., Pandey, Vijaya, Vashisht, Ajay A., Barshop, William D., Rayatpisheh, Shima, Sharma, Tanu, Haque, Tisha, Powers, David N., Wohlschlegel, James A.

Journal:

Year:

2019

Language:

english

File:

PDF, 2.55 MB

english, 2019

40

Chemical Derivatization of Affinity Matrices Provides Protection from Tryptic Proteolysis

Barshop, William D., Kim, Hee Jong, Fan, Xiaorui, Sha, Jihui, Rayatpisheh, Shima, Wohlschlegel, James A.

Journal:

Journal of Proteome Research

Year:

2019

Language:

english

File:

PDF, 815 KB

english, 2019

41

Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease

Nyhan, William L., McGowan, Karen, Barshop, Bruce A.

Journal:

Clinica Chimica Acta

Year:

2019

Language:

english

File:

PDF, 160 KB

english, 2019

42

Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease

Nyhan, William L., McGowan, Karen, Barshop, Bruce A.

Journal:

Clinica Chimica Acta

Year:

2019

File:

PDF, 160 KB

2019

43

The characterization of Mediator 12 and 13 as conditional positive gene regulators in Arabidopsis

Liu, Qikun, Bischof, Sylvain, Harris, C. Jake, Zhong, Zhenhui, Zhan, Lingyu, Nguyen, Calvin, Rashoff, Andrew, Barshop, William D., Sun, Fei, Feng, Suhua, Potok, Magdalena, Gallego-Bartolome, Javier, Z

Journal:

Nature Communications

Year:

2020

File:

PDF, 1.71 MB

2020

44

Sensitive Assay for Mitochondrial DNA Polymerase Î³

Naviaux, Robert K, Markusic, David, Barshop, Bruce A, Nyhan, William L, Haas, Richard H

Journal:

Clinical Chemistry

Year:

1999

File:

PDF, 340 KB

1999

45

FBXO44 promotes DNA replication-coupled repetitive element silencing in cancer cells

Shen, Jia Z., Qiu, Zhixin, Wu, Qiulian, Finlay, Darren, Garcia, Guillermina, Sun, Dahui, Rantala, Juha, Barshop, William, Hope, Jennifer L., Gimple, Ryan C., Sangfelt, Olle, Bradley, Linda M., Wohlsch

Journal:

Year:

2020

File:

PDF, 17.20 MB

2020

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