Bruce Allen Barshop M.D., PH.D.
Geneticist | Clinical Biochemical Genetics
3020 Childrens Way San Diego CA, 92123About
Dr. Bruce Barshop practices Genetic Medicine in San Diego, CA. As a geneticist, Dr. Barshop performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients? with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Barshop carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
UC San Diego, School of Medicine, San Diego, CA Other Degree
Professor Medical Degree
Professor of Clinical Pediatrics Medical Degree
Board Certification
Medical GeneticsAmerican Board of Medical GeneticsABMG
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation.
- Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate.
- Mitochondrial tubulopathy: the many faces of mitochondrial disorders.
- Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation.
- Role of L-carnitine in apnea of prematurity: a randomized, controlled trial.
- Identification of 16 novel mutations in the argininosuccinate synthetase gene and
- A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.
- Metabolomic approaches to mitochondrial disease: correlation of urine organic acids.
- Domino hepatic transplantation in maple syrup urine disease.
- Domino liver transplantation in maple syrup urine disease.
- Analysis of coenzyme Q in human blood and tissues.
- Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.
- Metabolomics identifies perturbations in human disorders of propionate metabolism.
- Fatal initial adult-onset presentation of urea cycle defect.
- Attitudes regarding vaccination among practitioners of clinical biochemical genetics.
Clinical Trials
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