Professor, Pediatrics, UCSD School of Medicine

Medical Genetics

Bruce Barshop works in the field of Medical Genetics. He attended Washington University School of Medicine in St. Louis. Dr. Bruce A. Barshop has written publications. He has 35 publications published with PubMed. The lastest publication is: 'Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.'

Publications

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• Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.
• Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.
• Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
• Validation of a dual LC-HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics.
• Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
• A model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E. coli K-12 MG1655 that is biochemically and thermodynamically consistent.
• Cysteamine Modulates Oxidative Stress and Blocks Myofibroblast Activity in CKD.
• Pharmacokinetics of cysteamine bitartrate following intraduodenal delivery.
• Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
• 45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?
• Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
• Long-term treatment of cystinosis in children with twice-daily cysteamine.
• Twice-daily cysteamine bitartrate therapy for children with cystinosis.
• Laboratory referral practices in biochemical genetics in the United States.
• Agalsidase alfa and kidney dysfunction in Fabry disease.
• Management of a patient with holocarboxylase synthetase deficiency.
• Organic anion transporter 3 contributes to the regulation of blood pressure.
• Attitudes regarding vaccination among practitioners of clinical biochemical genetics.
• Multiple organic anion transporters contribute to net renal excretion of uric acid.
• Metabolomics identifies perturbations in human disorders of propionate metabolism.
• Fatal initial adult-onset presentation of urea cycle defect.
• Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.
• Understanding intestinal cysteamine bitartrate absorption.
• Domino liver transplantation in maple syrup urine disease.
• Decreased renal organic anion secretion and plasma accumulation of endogenous organic anions in OAT1 knock-out mice.
• Domino hepatic transplantation in maple syrup urine disease.
• Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study.
• Chronic treatment of mitochondrial disease patients with dichloroacetate.
• The role of methionine in ethylmalonic encephalopathy with petechiae.
• Total plasma homocysteine and primary open-angle glaucoma.
• Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
• Effects of estrogen and psychological stress on plasma homocysteine levels.
• Pyruvate carboxylase deficiency--insights from liver transplantation.
• Role of L-carnitine in apnea of prematurity: a randomized, controlled trial.

Schools

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• Washington Center School of Medicine

• Uc San Diego Mc

• University Of California San Diego

Doctors Specialties

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• Clinical Biochemical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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• Aetna HMO
• Choice Plus POS II
• Blue Card PPO
• Advantage Preferred DirectAccess Plus PPO
• Blue Cross Blue Shield of California PPO
• Pathway X Direct Access PPO
• Pathway X Guided Access HMO
• Pathway X Tiered Direct Access
• Priority Select HMO
• Access Plus Savenet
• Basic Exclusive PPO for Small Business
• Basic PPO
• Enhanced Exclusive for Small Business HMO
• Cigna HMO
• Cigna PPO
• Great West Healthcare-Cigna PPO
• LocalPlus
• Open Access Plus
• Commercial Insurance Company
• First Health (Coventry Health Care) PPO
• Blue & Gold HMO
• Covered California - Bronze PPO
• Employer Group HMO
• Health Net PPO
• Individual and Family PPO
• SmartCare HMO
• WholeCare Network HMO
• Kaiser Permanente
• Medicaid
• Medicare MCR
• Molina
• Kaiser PHCS Network PPO
• MultiPlan PPO
• PHCS Network PPO
• Choice Plus POS
• Navigate HMO
• Navigate POS
• Options PPO
• PacifiCare HMO
• United Healthcare

Education

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• University of California San Diego
• Washington University School of Medicine in St. Louis

Hospital

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• UC San Diego Health
• Rady Children's Hospital - San Diego

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