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BRUCE BARSHOP, M.D., PH.D.
M.D., PH.D.
Clinical Biochemical Genetics Physician
NPI: 1477624237Individual
Specialties, Licenses & Credentials
Clinical Biochemical Genetics PhysicianPrimary
Medical Genetics — Clinical Biochemical Genetics
Code: 207SG0202X
G58157(CA)
Research & Publications (20)
Metabolomic approaches to mitochondrial disease: correlation of urine organic acids.
PMID 16120410·Mitochondrion·2004
8-other
Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
PMID 11596657·J Inherit Metab Dis·2001
5-case
Time before isolating cystinotic leukocytes affects reliability of cystine determination.
PMID 19396469·Pediatr Nephrol·2009
8-other
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.
PMID 19357990·J Inherit Metab Dis·2009
5-case
Unusual presentation of propionic acidaemia as isolated cardiomyopathy.
PMID 19238581·J Inherit Metab Dis·2009
5-case
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
PMID 19027335·Mol Genet Metab·2009
8-other
Management of a patient with holocarboxylase synthetase deficiency.
PMID 18974016·Mol Genet Metab·2008
5-case
Organic anion transporter 3 contributes to the regulation of blood pressure.
PMID 18508962·J Am Soc Nephrol·2008
7-preclinical
Multiple organic anion transporters contribute to net renal excretion of uric acid.
PMID 18270321·Physiol Genomics·2008
7-preclinical
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
PMID 18155630·Mol Genet Metab·2008
6-review
Metabolomics identifies perturbations in human disorders of propionate metabolism.
PMID 17951291·Clin Chem·2007
8-other
Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.
PMID 17908719·Pediatrics·2007
5-case
Pharmacokinetics of cysteamine bitartrate following gastrointestinal infusion.
PMID 17229040·Br J Clin Pharmacol·2007
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
Via practice · 2 locations total
- Address
- 7920 FROST ST STE 200
SAN DIEGO, CA 92123 - Phone
- (858) 576-1700
Quick Facts
- NPI
- 1477624237
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 2
- Publications
- 20
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