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Author Details

Bruce A Barshop
University of California San Diego
1975
103
34
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37940383Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.J Med Genet2024
35812296Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys.Kidney Int Rep2022
35659502In memoriam: Jerry Allan Schneider, 1937-2021.Mol Genet Metab2022
33399331Dairy Fat Intake, Plasma Pentadecanoic Acid, and Plasma Iso-heptadecanoic Acid Are Inversely Associated With Liver Fat in Children.J Pediatr Gastroenterol Nutr2021
33625503Tumor metabolism and neurocognition in CNS lymphoma.Neuro Oncol2021
32154053Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.JIMD Rep2020
31805394A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.Eur J Med Genet2020
33448436Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride.J Inherit Metab Dis2020
33211814Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.Am J Intellect Dev Disabil2020
32589682Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes.PLoS One2020
31404531Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.Clin Chim Acta2019
29536203Promises and pitfalls of untargeted metabolomics.J Inherit Metab Dis2018
30013181Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.Nat Genet2018
29875981Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.J Radiol Case Rep2018
27518780Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.JIMD Rep2017
28838325A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.Orphanet J Rare Dis2017
26219882Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia.JIMD Rep2016
28111598The mPEG-PCL Copolymer for Selective Fermentation of Staphylococcus lugdunensis Against Candida parapsilosis in the Human Microbiome.J Microb Biochem Technol2016
26597322In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.Mol Genet Metab2016
27181776Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.Kidney Int2016
26712218p300 is not required for metabolic adaptation to endurance exercise training.FASEB J2016
26980209Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes.Clin Chem2016
25356967Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.Genet Med2015
25680927Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.Mol Genet Metab2015
25665838Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.JIMD Rep2015
23113697Pharmacokinetics of cysteamine bitartrate following intraduodenal delivery.Fundam Clin Pharmacol2014
25411574Validation of a dual LC-HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics.Metabolomics2014
24503138Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.Mol Genet Metab2014
24249002A model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E. coli K-12 MG1655 that is biochemically and thermodynamically consistent.Biotechnol Bioeng2014
24268530Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.Mol Genet Metab2014
24009239Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD.J Am Soc Nephrol2014
23583224Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.Mol Genet Metab2013
23949796Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease.J Am Soc Nephrol2013
23680766Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.Genet Med2013
22424739Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.Mol Genet Metab2012
21071250Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.Mol Genet Metab2011
21841779Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.Nat Genet2011
2154962545-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?Mol Genet Metab2011
19775699Twice-daily cysteamine bitartrate therapy for children with cystinosis.J Pediatr2010
20716238Pharmacokinetics of enteric-coated cysteamine bitartrate in healthy adults: a pilot study.Br J Clin Pharmacol2010
20138296Long-term treatment of cystinosis in children with twice-daily cysteamine.J Pediatr2010
19027335Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.Mol Genet Metab2009
19842193Severe hypertriglyceridemia and recurrent pancreatitis in a girl with type Ia glycogen storage disease and type III hyperlipoproteinemia.Am J Med Genet A2009
19663047Laboratory referral practices in biochemical genetics in the United States.Mol Genet Metab2009
19396469Time before isolating cystinotic leukocytes affects reliability of cystine determination.Pediatr Nephrol2009
19357990Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.J Inherit Metab Dis2009
19357250Agalsidase alfa and kidney dysfunction in Fabry disease.J Am Soc Nephrol2009
19238581Unusual presentation of propionic acidaemia as isolated cardiomyopathy.J Inherit Metab Dis2009
18155630A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.Mol Genet Metab2008
18816884Attitudes regarding vaccination among practitioners of clinical biochemical genetics.Mol Genet Metab2008
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Collaborators

University of California
Co-authored papers 31
University of California
Co-authored papers 26
University of California
Co-authored papers 13
University of California, San Diego School of Medicine
Co-authored papers 11
university of california san diego
Co-authored papers 4
Co-authored papers 4
Scripps Center for Metabolomics and Mass Spectrometry, The Scripps Research Institute
Co-authored papers 3
Herbert Wertheim School of Public Health, University of California
Co-authored papers 2
University of California
Co-authored papers 2
Lady Hardinge Medical College and Associated SSK and KSC Hospitals
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 2
Institute for Advanced Biosciences, Keio University
Co-authored papers 2
Rady Children's Hospital and The University of California
Co-authored papers 2
University of Minnesota
Co-authored papers 1
University of California
Co-authored papers 1
Medical Clinic and Policlinic IV, University of Munich
Co-authored papers 1
Blood Borne Infections Research Center, Academic Center for Education
Co-authored papers 1
University of California
Co-authored papers 1
Folkhalsan Institute of Genetics, Folkhalsan Research Center
Co-authored papers 1
Ospedale Pediatrico Bambino Gesu IRCCS
Co-authored papers 1
Co-authored papers 1
University of Michigan-Ann Arbor
Co-authored papers 1
Clinical Metabolomics
Co-authored papers 1
Co-authored papers 1
Section of Clinical Genetics and Metabolism, University of Colorado
Co-authored papers 1
University of Michigan ann arbor
Co-authored papers 1
Department of Pediatrics and Rady's Children's Hospital, University of California
Co-authored papers 1
Co-authored papers 1
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 1
University of North Carolina at Chapel Hill
Co-authored papers 1