Bruce A Barshop

Bruce A Barshop

UNVERIFIED PROFILE

Are you Bruce A Barshop?   Register this Author

Register author
Bruce A Barshop

Bruce A Barshop

Publications by authors named "Bruce A Barshop"

Are you Bruce A Barshop?   Register this Author

55Publications

1682Reads

45Profile Views

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

Clin Chim Acta 2019 Dec 9;499:13-15. Epub 2019 Aug 9.

Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2019.07.034DOI Listing
December 2019

Promises and pitfalls of untargeted metabolomics.

J Inherit Metab Dis 2018 05 13;41(3):355-366. Epub 2018 Mar 13.

Biochemical Genetics and Metabolomics Laboratory, Department of Pediatrics, University of California San Diego, 9500 Gilman Dr. La Jolla, CA, 92093-0830, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0130-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960440PMC
May 2018

Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.

J Radiol Case Rep 2018 Jan 31;12(1):1-8. Epub 2018 Jan 31.

Department of Radiology, Rady Children's Hospital-San Diego, San Diego, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3941/jrcr.v12i1.3207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965393PMC
January 2018

Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Kidney Int 2016 06;89(6):1192-203

Department of Pediatric Nephrology, University Hospitals Leuven, Belgium; Department of Development and Regeneration, Katholieke Universiteit Leuven, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.kint.2016.01.033DOI Listing
June 2016

Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes.

Clin Chem 2016 05 15;62(5):766-72. Epub 2016 Mar 15.

Biochemical Genetics and Metabolomics Laboratory, Department of Pediatrics, University of California, San Diego, La Jolla, CA.

View Article

Download full-text PDF

Source
http://www.clinchem.org/content/early/2016/03/15/clinchem.20
Web Search
http://www.clinchem.org/cgi/doi/10.1373/clinchem.2015.252494
Publisher Site
http://dx.doi.org/10.1373/clinchem.2015.252494DOI Listing
May 2016

p300 is not required for metabolic adaptation to endurance exercise training.

FASEB J 2016 Apr 28;30(4):1623-33. Epub 2015 Dec 28.

*Department of Orthopaedic Surgery and Department of Pediatrics, School of Medicine, University of California, San Diego, La Jolla, California, USA; School of Sport, Exercise, and Rehabilitation Sciences, University of Birmingham, Edgbaston, United Kingdom; and Department of Human Physiology, University of Oregon, Eugene, Oregon, USA

View Article

Download full-text PDF

Source
http://www.fasebj.org/content/early/2015/12/24/fj.15-281741.
Web Search
http://www.fasebj.org/cgi/doi/10.1096/fj.15-281741
Publisher Site
http://dx.doi.org/10.1096/fj.15-281741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799503PMC
April 2016

In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

Mol Genet Metab 2016 Jan 14;117(1):19-26. Epub 2015 Nov 14.

Division of Neuropediatrics and Pediatric Metabolic Medicine, University Children's Hospital Heidelberg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.11.007DOI Listing
January 2016

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.

JIMD Rep 2015 10;24:13-20. Epub 2015 Feb 10.

Biochemical Genetics and Metabolomics Laboratory, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2014_403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582031PMC
September 2015

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

Genet Med 2015 Aug 6;17(8):660-7. Epub 2014 Nov 6.

1] Department of Pediatrics, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA [2] Clinical and Translational Research Institute, University of California, San Diego, La Jolla, California, USA [3] Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422778PMC
August 2015

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

Mol Genet Metab 2015 Mar 29;114(3):431-7. Epub 2015 Jan 29.

Biochemical Genetics and Metabolomics Laboratory, Department of Pediatrics, University of California, San Diego, 9500 Gilman Dr., La Jolla, CA 92093, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.01.005DOI Listing
March 2015

Pharmacokinetics of cysteamine bitartrate following intraduodenal delivery.

Fundam Clin Pharmacol 2014 Apr 31;28(2):136-43. Epub 2012 Oct 31.

Department of Pediatric, University of California, San Diego, CA, USA; Rady Children's Hospital, San Diego, CA, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/fcp.12009
Publisher Site
http://dx.doi.org/10.1111/fcp.12009DOI Listing
April 2014

A model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E. coli K-12 MG1655 that is biochemically and thermodynamically consistent.

Biotechnol Bioeng 2014 Apr 19;111(4):803-15. Epub 2013 Nov 19.

Department of Bioengineering, University of California, San Diego, 9500 Gilman Drive, La Jolla, California, 92093-0412.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bit.25133DOI Listing
April 2014

Validation of a dual LC-HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics.

Metabolomics 2014 Apr;10(2):312-323

Biochemical Genetics Lab, University of California, San Diego. 9500 Gilman Dr. La Jolla, CA 92093.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11306-013-0582-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234038PMC
April 2014

Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD.

J Am Soc Nephrol 2014 Jan 5;25(1):43-54. Epub 2013 Sep 5.

Seattle Children's Hospital Research Institute, University of Washington, Seattle, Washington;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1681/ASN.2012090962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3871767PMC
January 2014

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

Mol Genet Metab 2013 Jun 16;109(2):215-7. Epub 2013 Mar 16.

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.03.003DOI Listing
June 2013

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

Mol Genet Metab 2011 Aug 22;103(4):338-40. Epub 2011 Apr 22.

Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.04.007DOI Listing
August 2011

Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.

Mol Genet Metab 2011 Feb 20;102(2):218-21. Epub 2010 Oct 20.

Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California San Diego, La Jolla, CA 92093, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2010.10.008DOI Listing
February 2011

Pharmacokinetics of enteric-coated cysteamine bitartrate in healthy adults: a pilot study.

Br J Clin Pharmacol 2010 Sep;70(3):376-82

Department of Paediatrics, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2125.2010.03721.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2949910PMC
September 2010

Long-term treatment of cystinosis in children with twice-daily cysteamine.

J Pediatr 2010 May 6;156(5):823-7. Epub 2010 Feb 6.

Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2009.11.059DOI Listing
May 2010

Twice-daily cysteamine bitartrate therapy for children with cystinosis.

J Pediatr 2010 Jan;156(1):71-75.e1-3

Department of Pediatrics, University of California San Diego, La Jolla, CA 92103-8450, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2009.07.016DOI Listing
January 2010

Laboratory referral practices in biochemical genetics in the United States.

Mol Genet Metab 2009 Sep-Oct;98(1-2):149-51

Department of Pediatrics, Rady Children's Hospital - San Diego, University of California, San Diego, La Jolla, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2009.05.013DOI Listing
November 2009

Agalsidase alfa and kidney dysfunction in Fabry disease.

J Am Soc Nephrol 2009 May 8;20(5):1132-9. Epub 2009 Apr 8.

Division of Nephrology, Department of Medicine, Dalhousie University, 5090 ACC QE II Health Sciences Centre, 5820 University Avenue, Halifax, NS, Canada B3H 1V8.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1681/ASN.2008080870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2678048PMC
May 2009

Attitudes regarding vaccination among practitioners of clinical biochemical genetics.

Mol Genet Metab 2008 Sep-Oct;95(1-2):1-2

Department of Pediatrics, UCSD, Rady Children's Hospital-San Diego, UCSD School of Medicine, La Jolla, CA 92093-0830, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2008.08.001DOI Listing
November 2008

Organic anion transporter 3 contributes to the regulation of blood pressure.

J Am Soc Nephrol 2008 Sep 28;19(9):1732-40. Epub 2008 May 28.

Division of Nephrology and Hypertension, Department of Medicine, University of California San Diego and VASDHCS, 3350 La Jolla Village Drive (9151), San Diego, CA 92161, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1681/ASN.2008020180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518443PMC
September 2008

Multiple organic anion transporters contribute to net renal excretion of uric acid.

Physiol Genomics 2008 Apr 12;33(2):180-92. Epub 2008 Feb 12.

Department of Medicine, University of California, San Diego, La Jolla, CA 92093, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/physiolgenomics.00207.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3016923PMC
April 2008

Metabolomics identifies perturbations in human disorders of propionate metabolism.

Clin Chem 2007 Dec 19;53(12):2169-76. Epub 2007 Oct 19.

Department of Molecular Biology and The Center for Mass Spectrometry, The Scripps Research Institute, La Jolla, CA 92037, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2007.089011DOI Listing
December 2007

Fatal initial adult-onset presentation of urea cycle defect.

Arch Neurol 2007 Dec;64(12):1777-9

Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093-0830, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneur.64.12.1777DOI Listing
December 2007

Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.

Pediatrics 2007 Nov 1;120(5):e1335-40. Epub 2007 Oct 1.

Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2007-0674DOI Listing
November 2007

Analysis of coenzyme Q in human blood and tissues.

Mitochondrion 2007 Jun 13;7 Suppl:S89-93. Epub 2007 Apr 13.

Department of Pediatrics, University of California San Diego, La Jolla, CA 92093-0830, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2007.04.002DOI Listing
June 2007

Pharmacokinetics of cysteamine bitartrate following gastrointestinal infusion.

Br J Clin Pharmacol 2007 Jan;63(1):36-40

Department of Paediatrics and Family, University of California at San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2125.2006.02734.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2000721PMC
January 2007

Understanding intestinal cysteamine bitartrate absorption.

J Pediatr 2006 Jun;148(6):764-9

Department of Pediatrics, University of California, San Diego, La Jolla, California 92103-8450, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2006.01.050DOI Listing
June 2006

Domino liver transplantation in maple syrup urine disease.

Liver Transpl 2006 May;12(5):876-82

Department of Surgery, University of California, San Diego, La Jolla, CA 92093-0830, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/lt.20744DOI Listing
May 2006

Decreased renal organic anion secretion and plasma accumulation of endogenous organic anions in OAT1 knock-out mice.

J Biol Chem 2006 Feb 14;281(8):5072-83. Epub 2005 Dec 14.

Department of Medicine, University of California San Diego, La Jolla, California 92093, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M508050200DOI Listing
February 2006

Domino hepatic transplantation in maple syrup urine disease.

N Engl J Med 2005 Dec;353(22):2410-1

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJM200512013532220DOI Listing
December 2005

Chronic treatment of mitochondrial disease patients with dichloroacetate.

Mol Genet Metab 2004 Sep-Oct;83(1-2):138-49

Department of Pediatrics, University of California San Diego, La Jolla, CA 92093-0830, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2004.06.009DOI Listing
March 2005

Metabolomic approaches to mitochondrial disease: correlation of urine organic acids.

Authors:
Bruce A Barshop

Mitochondrion 2004 Sep 30;4(5-6):521-7. Epub 2004 Sep 30.

Department of Pediatrics, UCSD School of Medicine, La Jolla, CA 92093-0830, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2004.07.010DOI Listing
September 2004

The role of methionine in ethylmalonic encephalopathy with petechiae.

Arch Neurol 2004 Apr;61(4):570-4

Institute of Molecular Genetics and the Department of Pediatrics, University of California San Diego, La Jolla 92093, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneur.61.4.570DOI Listing
April 2004

Total plasma homocysteine and primary open-angle glaucoma.

Am J Ophthalmol 2004 Mar;137(3):401-6

Departments of Ophthalmology, University of California, San Diego, San Diego, California 92093-0946, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajo.2003.09.041DOI Listing
March 2004

Pyruvate carboxylase deficiency--insights from liver transplantation.

Mol Genet Metab 2002 Sep-Oct;77(1-2):143-9

Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s1096-7192(02)00123-3DOI Listing
May 2003

Effects of estrogen and psychological stress on plasma homocysteine levels.

Fertil Steril 2003 Feb;79(2):256-60

Department of Psychiatry, University of California, San Diego, San Diego, California 92093, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0015-0282(02)04676-9DOI Listing
February 2003

Role of L-carnitine in apnea of prematurity: a randomized, controlled trial.

Pediatrics 2002 Apr;109(4):622-6

Department of Pediatrics, Division of Neonatology, University of California, San Diego, San Diego, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.109.4.622DOI Listing
April 2002