Bruce Barshop

Title(s)Recall Faculty, Pediatrics
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Genetic Factors Involving Expression of 3-Methylcrotonyl-CoA Carboxylase Deficien
    NIH R03HD069983Aug 15, 2011 - Jul 31, 2013
    Role: Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    1. Dairy Fat Intake, Plasma Pentadecanoic Acid, and Plasma Iso-heptadecanoic Acid Are Inversely Associated With Liver Fat in Children. J Pediatr Gastroenterol Nutr. 2021 04 01; 72(4):e90-e96. Sawh MC, Wallace M, Shapiro E, Goyal NP, Newton KP, Yu EL, Bross C, Durelle J, Knott C, Gangoiti JA, Barshop BA, Gengatharan JM, Meurs N, Schlein A, Middleton MS, Sirlin CB, Metallo CM, Schwimmer JB. PMID: 33399331.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    2. Tumor Metabolism and Neurocognition in CNS Lymphoma. Neuro Oncol. 2021 Feb 24. Geng H, Tsang M, Subbaraj L, Cleveland J, Chen L, Lu M, Sharma J, Vigneron DB, Kurhanewicz J, LaFontaine M, Luks T, Barshop BA, Gangoiti J, Villanueva-Meyer JE, Rubenstein JL. PMID: 33625503.
      View in: PubMed   Mentions:    Fields:    
    3. Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480. Farmer CA, Kaat AJ, Thurm A, Anselm I, Akshoomoff N, Bennett A, Berry L, Bruchey A, Barshop BA, Berry-Kravis E, Bianconi S, Cecil KM, Davis RJ, Ficicioglu C, Porter FD, Wainer A, Goin-Kochel RP, Leonczyk C, Guthrie W, Koeberl D, Love-Nichols J, Mamak E, Mercimek-Andrews S, Thomas RP, Spiridigliozzi GA, Sullivan N, Sutton VR, Udhnani MD, Waisbren SE, Miller JS. PMID: 33211814.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    4. Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride. J Inherit Metab Dis. 2020 11; 43(6):1232-1242. Gaston G, Gangoiti JA, Winn S, Chan B, Barshop BA, Harding CO, Gillingham MB. PMID: 33448436.
      View in: PubMed   Mentions: 1     Fields:    
    5. Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes. PLoS One. 2020; 15(6):e0234970. Concepcion J, Chen K, Saito R, Gangoiti J, Mendez E, Nikita ME, Barshop BA, Natarajan L, Sharma K, Kim JJ. PMID: 32589682.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    6. Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. JIMD Rep. 2020 Mar; 52(1):3-10. Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A. PMID: 32154053.
      View in: PubMed   Mentions:
    7. A 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 Genet. 2020 Apr; 63(4):103822. Thompson MD, Knaus AA, Barshop BA, Caliebe A, Muhle H, Nguyen TTM, Baratang NV, Kinoshita T, Percy ME, Campeau PM, Murakami Y, Cole DE, Krawitz PM, Mabry CC. PMID: 31805394.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    8. Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease. Clin Chim Acta. 2019 Dec; 499:13-15. Nyhan WL, McGowan K, Barshop BA. PMID: 31404531.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 08; 50(8):1093-1101. Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. PMID: 30013181.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    10. Promises and pitfalls of untargeted metabolomics. J Inherit Metab Dis. 2018 05; 41(3):355-366. Gertsman I, Barshop BA. PMID: 29536203.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    11. Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria. J Radiol Case Rep. 2018 Jan; 12(1):1-8. Li CQ, Barshop BA, Feigenbaum A, Khanna PC. PMID: 29875981.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease. Orphanet J Rare Dis. 2017 08 24; 12(1):144. Byrne BJ, Geberhiwot T, Barshop BA, Barohn R, Hughes D, Bratkovic D, Desnuelle C, Laforet P, Mengel E, Roberts M, Haroldsen P, Reilley K, Jayaram K, Yang K, Walsh L, POM-001/002 Investigators . PMID: 28838325.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCTClinical Trials
    13. Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency. JIMD Rep. 2017; 34:55-61. Quinonez SC, Seeley AH, Lam C, Glover TW, Barshop BA, Keegan CE. PMID: 27518780.
      View in: PubMed   Mentions:
    14. The mPEG-PCL Copolymer for Selective Fermentation of Staphylococcus lugdunensis Against Candida parapsilosis in the Human Microbiome. J Microb Biochem Technol. 2016 Aug; 8(4):259-265. Kao MS, Wang Y, Marito S, Huang S, Lin WZ, Gangoiti JA, Barshop BA, Hyun C, Lee WR, Sanford JA, Gallo RL, Ran Y, Chen WT, Huang CJ, Hsieh MF, Huang CM. PMID: 28111598.
      View in: PubMed   Mentions:
    15. 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. Langman CB, Barshop BA, Deschênes G, Emma F, Goodyer P, Lipkin G, Midgley JP, Ottolenghi C, Servais A, Soliman NA, Thoene JG, Levtchenko EN, Conference Participants . PMID: 27181776.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    16. Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes. Clin Chem. 2016 05; 62(5):766-72. Gertsman I, Johnson WS, Nishikawa C, Gangoiti JA, Holmes B, Barshop BA. PMID: 26980209.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    17. p300 is not required for metabolic adaptation to endurance exercise training. FASEB J. 2016 Apr; 30(4):1623-33. LaBarge SA, Migdal CW, Buckner EH, Okuno H, Gertsman I, Stocks B, Barshop BA, Nalbandian SR, Philp A, McCurdy CE, Schenk S. PMID: 26712218.
      View in: PubMed   Mentions: 8     Fields:    Translation:Animals
    18. In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis. Mol Genet Metab. 2016 Jan; 117(1):19-26. Opladen T, Lindner M, Das AM, Marquardt T, Khan A, Emre SH, Burton BK, Barshop BA, Böhm T, Meyburg J, Zangerl K, Mayorandan S, Burgard P, Dürr UH, Rosenkranz B, Rennecke J, Derbinski J, Yudkoff M, Hoffmann GF. PMID: 26597322.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    19. Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. JIMD Rep. 2016; 25:87-94. Khanna A, Gish R, Winter SC, Nyhan WL, Barshop BA. PMID: 26219882.
      View in: PubMed   Mentions:
    20. Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. JIMD Rep. 2015; 24:13-20. Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan WL. PMID: 25665838.
      View in: PubMed   Mentions:
    21. Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome. Mol Genet Metab. 2015 Mar; 114(3):431-7. Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA. PMID: 25680927.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    22. Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genet Med. 2015 Aug; 17(8):660-7. Shepard PJ, Barshop BA, Baumgartner MR, Hansen JB, Jepsen K, Smith EN, Frazer KA. PMID: 25356967.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansPHPublic Health
    23. Validation of a dual LC-HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics. Metabolomics. 2014 Apr 04; 10(2):312-323. Gertsman I, Gangoiti JA, Barshop BA. PMID: 25411574.
      View in: PubMed   Mentions: 16     Fields:    
    24. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. Mol Genet Metab. 2014 Apr; 111(4):484-92. Merritt JL, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A. PMID: 24503138.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansPHPublic Health
    25. 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; 111(4):803-15. McCloskey D, Gangoiti JA, King ZA, Naviaux RK, Barshop BA, Palsson BO, Feist AM. PMID: 24249002.
      View in: PubMed   Mentions: 22     Fields:    Translation:Cells
    26. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25. Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. PMID: 24268530.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    27. Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol. 2013 Nov; 24(11):1901-12. Sharma K, Karl B, Mathew AV, Gangoiti JA, Wassel CL, Saito R, Pu M, Sharma S, You YH, Wang L, Diamond-Stanic M, Lindenmeyer MT, Forsblom C, Wu W, Ix JH, Ideker T, Kopp JB, Nigam SK, Cohen CD, Groop PH, Barshop BA, Natarajan L, Nyhan WL, Naviaux RK. PMID: 23949796.
      View in: PubMed   Mentions: 178     Fields:    Translation:Humans
    28. Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD. J Am Soc Nephrol. 2014 Jan; 25(1):43-54. Okamura DM, Bahrami NM, Ren S, Pasichnyk K, Williams JM, Gangoiti JA, Lopez-Guisa JM, Yamaguchi I, Barshop BA, Duffield JS, Eddy AA. PMID: 24009239.
      View in: PubMed   Mentions: 17     Fields:    Translation:AnimalsCells
    29. Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa. Genet Med. 2013 Dec; 15(12):983-9. Schiffmann R, Ries M, Blankenship D, Nicholls K, Mehta A, Clarke JT, Steiner RD, Beck M, Barshop BA, Rhead W, West M, Martin R, Amato D, Nair N, Huertas P. PMID: 23680766.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCTClinical Trials
    30. Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab. 2013 Jun; 109(2):215-7. El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP. PMID: 23583224.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    31. Pharmacokinetics of cysteamine bitartrate following intraduodenal delivery. Fundam Clin Pharmacol. 2014 Apr; 28(2):136-43. Dohil R, Cabrera BL, Gangoiti JA, Barshop BA, Rioux P. PMID: 23113697.
      View in: PubMed   Mentions: 5     Fields:    Translation:Animals
    32. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab. 2012 May; 106(1):55-61. Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. PMID: 22424739.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansPHPublic Health
    33. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011 Aug 14; 43(9):883-6. Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, NIH Intramural Sequencing Center Group , Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. PMID: 21841779.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    34. 45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia? Mol Genet Metab. 2011 Aug; 103(4):338-40. Lam C, Desviat LR, Perez-Cerdá C, Ugarte M, Barshop BA, Cederbaum S. PMID: 21549625.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    35. Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol Genet Metab. 2011 Feb; 102(2):218-21. Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. PMID: 21071250.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    36. Pharmacokinetics of enteric-coated cysteamine bitartrate in healthy adults: a pilot study. Br J Clin Pharmacol. 2010 Sep; 70(3):376-82. Gangoiti JA, Fidler M, Cabrera BL, Schneider JA, Barshop BA, Dohil R. PMID: 20716238.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    37. Long-term treatment of cystinosis in children with twice-daily cysteamine. J Pediatr. 2010 May; 156(5):823-7. Dohil R, Gangoiti JA, Cabrera BL, Fidler M, Schneider JA, Barshop BA. PMID: 20138296.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    38. Twice-daily cysteamine bitartrate therapy for children with cystinosis. J Pediatr. 2010 Jan; 156(1):71-75.e1-3. Dohil R, Fidler M, Gangoiti JA, Kaskel F, Schneider JA, Barshop BA. PMID: 19775699.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    39. Severe hypertriglyceridemia and recurrent pancreatitis in a girl with type Ia glycogen storage disease and type III hyperlipoproteinemia. . 2009 Nov; 149A(11):2557-9. Vivatrat N, Barshop BA, Jones KL. PMID: 19842193.
      View in: PubMed   Mentions:
    40. Laboratory referral practices in biochemical genetics in the United States. Mol Genet Metab. 2009 Sep-Oct; 98(1-2):149-51. Barshop BA, Greene CL. PMID: 19663047.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    41. Time before isolating cystinotic leukocytes affects reliability of cystine determination. Pediatr Nephrol. 2009 Dec; 24(12):2465-6. Fidler MC, Gangoiti JA, Schneider JA, Barshop BA. PMID: 19396469.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    42. Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S79-82. Nyhan WL, Willis M, Barshop BA, Gangoiti J. PMID: 19357990.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansPHPublic Health
    43. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol. 2009 May; 20(5):1132-9. West M, Nicholls K, Mehta A, Clarke JT, Steiner R, Beck M, Barshop BA, Rhead W, Mensah R, Ries M, Schiffmann R. PMID: 19357250.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    44. Unusual presentation of propionic acidaemia as isolated cardiomyopathy. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S97-101. Lee TM, Addonizio LJ, Barshop BA, Chung WK. PMID: 19238581.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    45. Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metab. 2009 Jan; 96(1):38-43. Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ. PMID: 19027335.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    46. Management of a patient with holocarboxylase synthetase deficiency. Mol Genet Metab. 2008 Dec; 95(4):201-5. Van Hove JL, Josefsberg S, Freehauf C, Thomas JA, Thuy le P, Barshop BA, Woontner M, Mock DM, Chiang PW, Spector E, Meneses-Morales I, Cervantes-Roldán R, León-Del-Río A. PMID: 18974016.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    47. Attitudes regarding vaccination among practitioners of clinical biochemical genetics. Mol Genet Metab. 2008 Sep-Oct; 95(1-2):1-2. Barshop BA, Summar ML. PMID: 18816884.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansPHPublic Health
    48. Organic anion transporter 3 contributes to the regulation of blood pressure. J Am Soc Nephrol. 2008 Sep; 19(9):1732-40. Vallon V, Eraly SA, Wikoff WR, Rieg T, Kaler G, Truong DM, Ahn SY, Mahapatra NR, Mahata SK, Gangoiti JA, Wu W, Barshop BA, Siuzdak G, Nigam SK. PMID: 18508962.
      View in: PubMed   Mentions: 30     Fields:    Translation:AnimalsCells
    49. Multiple organic anion transporters contribute to net renal excretion of uric acid. Physiol Genomics. 2008 Apr 22; 33(2):180-92. Eraly SA, Vallon V, Rieg T, Gangoiti JA, Wikoff WR, Siuzdak G, Barshop BA, Nigam SK. PMID: 18270321.
      View in: PubMed   Mentions: 70     Fields:    Translation:Animals
    50. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab. 2008 Apr; 93(4):363-70. Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. PMID: 18155630.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansPHPublic Health
    51. Fatal initial adult-onset presentation of urea cycle defect. Arch Neurol. 2007 Dec; 64(12):1777-9. Lien J, Nyhan WL, Barshop BA. PMID: 18071043.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    52. Metabolomics identifies perturbations in human disorders of propionate metabolism. Clin Chem. 2007 Dec; 53(12):2169-76. Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G. PMID: 17951291.
      View in: PubMed   Mentions: 58     Fields:    Translation:Humans
    53. Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Pediatrics. 2007 Nov; 120(5):e1335-40. Wolfe LA, Finegold DN, Vockley J, Walters N, Chambaz C, Suormala T, Koch HG, Matern D, Barshop BA, Cropcho LJ, Baumgartner MR, Gibson KM. PMID: 17908719.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    54. Vomiting-again? J Hosp Med. 2007 May; 2(3):189-93. Sethi R, Barshop B, Stucky ER. PMID: 17551951.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    55. Analysis of coenzyme Q in human blood and tissues. Mitochondrion. 2007 Jun; 7 Suppl:S89-93. Barshop BA, Gangoiti JA. PMID: 17485249.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    56. Pharmacokinetics of cysteamine bitartrate following gastrointestinal infusion. Br J Clin Pharmacol. 2007 Jan; 63(1):36-40. Fidler MC, Barshop BA, Gangoiti JA, Deutsch R, Martin M, Schneider JA, Dohil R. PMID: 17229040.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    57. Understanding intestinal cysteamine bitartrate absorption. J Pediatr. 2006 Jun; 148(6):764-9. Dohil R, Fidler M, Barshop BA, Gangoiti J, Deutsch R, Martin M, Schneider JA. PMID: 16769383.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    58. Domino liver transplantation in maple syrup urine disease. Liver Transpl. 2006 May; 12(5):876-82. Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA. PMID: 16628687.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    59. Decreased renal organic anion secretion and plasma accumulation of endogenous organic anions in OAT1 knock-out mice. J Biol Chem. 2006 Feb 24; 281(8):5072-83. Eraly SA, Vallon V, Vaughn DA, Gangoiti JA, Richter K, Nagle M, Monte JC, Rieg T, Truong DM, Long JM, Barshop BA, Kaler G, Nigam SK. PMID: 16354673.
      View in: PubMed   Mentions: 85     Fields:    Translation:AnimalsCells
    60. Domino hepatic transplantation in maple syrup urine disease. N Engl J Med. 2005 Dec 01; 353(22):2410-1. Barshop BA, Khanna A. PMID: 16319396.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    61. Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. Pediatr Nephrol. 2005 Dec; 20(12):1786-93. Dohil R, Fidler M, Barshop B, Newbury R, Sellers Z, Deutsch R, Schneider J. PMID: 16133039.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    62. Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. Hum Mutat. 2005 Apr; 25(4):413. Wolf B, Jensen KP, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, Slonim AE. PMID: 15776412.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    63. Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging. 2004 Oct; 20(4):674-83. Moore DF, Ye F, Brennan ML, Gupta S, Barshop BA, Steiner RD, Rhead WJ, Brady RO, Hazen SL, Schiffmann R. PMID: 15390234.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCTClinical Trials
    64. Metabolomic approaches to mitochondrial disease: correlation of urine organic acids. Mitochondrion. 2004 Sep; 4(5-6):521-7. Barshop BA. PMID: 16120410.
      View in: PubMed   Mentions: 13     Fields:    
    65. Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):138-49. Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. PMID: 15464428.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCTClinical Trials
    66. The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol. 2004 Apr; 61(4):570-4. McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ. PMID: 15096407.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    67. Total plasma homocysteine and primary open-angle glaucoma. Am J Ophthalmol. 2004 Mar; 137(3):401-6. Wang G, Medeiros FA, Barshop BA, Weinreb RN. PMID: 15013860.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    68. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. Hum Mutat. 2003 Jul; 22(1):24-34. Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T. PMID: 12815590.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    69. Effects of estrogen and psychological stress on plasma homocysteine levels. Fertil Steril. 2003 Feb; 79(2):256-60. Farag NH, Barshop BA, Mills PJ. PMID: 12568831.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCTClinical Trials
    70. Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab. 2002 Sep-Oct; 77(1-2):143-9. Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. PMID: 12359142.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    71. Role of L-carnitine in apnea of prematurity: a randomized, controlled trial. Pediatrics. 2002 Apr; 109(4):622-6. O'Donnell J, Finer NN, Rich W, Barshop BA, Barrington KJ. PMID: 11927706.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCTClinical Trials
    72. Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation. Eur J Pediatr. 2001 Oct; 160(10):599-602. Marsden D, Nyhan WL, Barshop BA. PMID: 11686503.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    73. Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency. J Inherit Metab Dis. 2001 Aug; 24(4):513-4. Barshop BA, Nyhan WL, Climent C, Rubio V. PMID: 11596657.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    74. Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate. Muscle Nerve. 2001 Jul; 24(7):916-24. Spruijt L, Naviaux RK, McGowan KA, Nyhan WL, Sheean G, Haas RH, Barshop BA. PMID: 11410919.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCellsCTClinical Trials
    75. Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. J Child Neurol. 2000 Jun; 15(6):357-61. Graf WD, Marin-Garcia J, Gao HG, Pizzo S, Naviaux RK, Markusic D, Barshop BA, Courchesne E, Haas RH. PMID: 10868777.
      View in: PubMed   Mentions: 45     Fields:    Translation:Humans
    76. Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. Mol Genet Metab. 2000 Jan; 69(1):64-8. Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH. PMID: 10655159.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    77. Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts. J Inherit Metab Dis. 1999 Dec; 22(8):883-90. O'Brien DP, Barshop BA, Faunt KK, Johnson GC, Gibson KM, Shelton GD. PMID: 10604140.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    78. Sensitive assay for mitochondrial DNA polymerase gamma. Clin Chem. 1999 Oct; 45(10):1725-33. Naviaux RK, Markusic D, Barshop BA, Nyhan WL, Haas RH. PMID: 10508117.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    79. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol. 1999 Jan; 45(1):54-8. Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, Haas RH. PMID: 9894877.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansCells
    80. Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy. Muscle Nerve. 1998 Sep; 21(9):1202-5. Shelton GD, Nyhan WL, Kass PH, Barshop BA, Haas RH. PMID: 9703448.
      View in: PubMed   Mentions: 2     Fields:    Translation:Animals
    81. Treatment of the acute crisis in maple syrup urine disease. Arch Pediatr Adolesc Med. 1998 Jun; 152(6):593-8. Nyhan WL, Rice-Kelts M, Klein J, Barshop BA. PMID: 9641714.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    82. Diet change in the management of metabolic encephalomyopathies. Biofactors. 1998; 7(3):259-62. Haas RH, Barshop BA. PMID: 9568263.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    83. Oxidative metabolism in Rett syndrome: 1. Clinical studies. Neuropediatrics. 1995 Apr; 26(2):90-4. Haas RH, Light M, Rice M, Barshop BA. PMID: 7566464.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    84. Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways. Biochem Med Metab Biol. 1994 Aug; 52(2):145-54. Marsden D, Barshop BA, Capistrano-Estrada S, Rice M, Prodanos C, Sartoris D, Wolff J, Jones KL, Spector S, Nyhan WL. PMID: 7993663.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    85. Treatment of Lesch-Nyhan syndrome with AICAR. Adv Exp Med Biol. 1994; 370:353-6. Page T, Barshop B, Yu AL, Nyhan WL. PMID: 7660927.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    86. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nat Genet. 1992 Apr; 1(1):59-63. Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H, Dixon JE. PMID: 1302001.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    87. 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism. Pediatr Res. 1991 Oct; 30(4):322-6. Ko FJ, Nyhan WL, Wolff J, Barshop B, Sweetman L. PMID: 1956714.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    88. Luminescent immobilized enzyme test systems for inorganic pyrophosphate: assays using firefly luciferase and nicotinamide-mononucleotide adenylyl transferase or adenosine-5'-triphosphate sulfurylase. Anal Biochem. 1991 Aug 15; 197(1):266-72. Barshop BA, Adamson DT, Vellom DC, Rosen F, Epstein BL, Seegmiller JE. PMID: 1659248.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    89. Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. Pediatr Res. 1991 Jul; 30(1):15-22. Barshop BA, Yoshida I, Ajami A, Sweetman L, Wolff JA, Sweetman FR, Prodanos C, Smith M, Nyhan WL. PMID: 1909779.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    90. Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am J Med Genet. 1990 Feb; 35(2):222-8. Barshop BA, Wolff J, Nyhan WL, Yu A, Prodanos C, Jones G, Sweetman L, Leslie J, Holm J, Green R. PMID: 2309761.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    91. Kinetic studies of mutant human adenylosuccinase. Biochim Biophys Acta. 1989 Nov 09; 999(1):19-23. Barshop BA, Alberts AS, Gruber HE. PMID: 2804136.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    92. Duplication of 16q and deletion of 15q. Am J Med Genet. 1989 Oct; 34(2):183-6. Nyhan WL, Mascarello J, Barshop B, Doroski D, Hirschhorn K. PMID: 2816995.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    93. Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res. 1989 Aug; 26(2):140-4. Wolff JA, Barshop B, Nyhan WL, Leslie J, Seegmiller JE, Gruber H, Garst M, Winter S, Michals K, Matalon R. PMID: 2771520.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    94. Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am J Neuroradiol. 1989 Mar-Apr; 10(2):315-21. Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR. PMID: 2494850.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    95. Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia. J Inherit Metab Dis. 1989; 12(1):72-9. Barshop BA, Breuer J, Holm J, Leslie J, Nyhan WL. PMID: 2501586.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
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