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Bruce Barshop

Title(s)Senate Emeritus, Pediatrics
SchoolHealth Sciences
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    Genetic Factors Involving Expression of 3-Methylcrotonyl-CoA Carboxylase Deficien
    NIH/NICHD 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.
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    1. Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A. 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. PMID: 32154053.
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    2. 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. 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. PMID: 31805394.
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    3. Nyhan WL, McGowan K, Barshop BA. Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease. Clin Chim Acta. 2019 Dec; 499:13-15. PMID: 31404531.
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    4. 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. 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. PMID: 30013181.
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    5. Gertsman I, Barshop BA. Promises and pitfalls of untargeted metabolomics. J Inherit Metab Dis. 2018 05; 41(3):355-366. PMID: 29536203.
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    6. Li CQ, Barshop BA, Feigenbaum A, Khanna PC. Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria. J Radiol Case Rep. 2018 Jan; 12(1):1-8. PMID: 29875981.
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    7. 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. 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. PMID: 28838325.
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    8. Quinonez SC, Seeley AH, Lam C, Glover TW, Barshop BA, Keegan CE. 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. PMID: 27518780.
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    9. 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. 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. PMID: 28111598.
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    10. Langman CB, Barshop BA, Deschênes G, Emma F, Goodyer P, Lipkin G, Midgley JP, Ottolenghi C, Servais A, Soliman NA, Thoene JG, Levtchenko EN. 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. PMID: 27181776.
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    11. Gertsman I, Johnson WS, Nishikawa C, Gangoiti JA, Holmes B, Barshop BA. Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes. Clin Chem. 2016 05; 62(5):766-72. PMID: 26980209.
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    12. LaBarge SA, Migdal CW, Buckner EH, Okuno H, Gertsman I, Stocks B, Barshop BA, Nalbandian SR, Philp A, McCurdy CE, Schenk S. p300 is not required for metabolic adaptation to endurance exercise training. FASEB J. 2016 Apr; 30(4):1623-33. PMID: 26712218.
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    13. 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. 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. PMID: 26597322.
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    14. Khanna A, Gish R, Winter SC, Nyhan WL, Barshop BA. Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. JIMD Rep. 2016; 25:87-94. PMID: 26219882.
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    15. Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan WL. Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. JIMD Rep. 2015; 24:13-20. PMID: 25665838.
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    16. Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA. Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome. Mol Genet Metab. 2015 Mar; 114(3):431-7. PMID: 25680927.
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    17. Shepard PJ, Barshop BA, Baumgartner MR, Hansen JB, Jepsen K, Smith EN, Frazer KA. Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genet Med. 2015 Aug; 17(8):660-7. PMID: 25356967.
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    18. Gertsman I, Gangoiti JA, Barshop BA. 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. PMID: 25411574.
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    19. Merritt JL, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. Mol Genet Metab. 2014 Apr; 111(4):484-92. PMID: 24503138.
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    20. McCloskey D, Gangoiti JA, King ZA, Naviaux RK, Barshop BA, Palsson BO, Feist AM. 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. PMID: 24249002.
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    21. 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. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25. PMID: 24268530.
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    22. 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. Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol. 2013 Nov; 24(11):1901-12. PMID: 23949796.
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    23. Okamura DM, Bahrami NM, Ren S, Pasichnyk K, Williams JM, Gangoiti JA, Lopez-Guisa JM, Yamaguchi I, Barshop BA, Duffield JS, Eddy AA. Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD. J Am Soc Nephrol. 2014 Jan; 25(1):43-54. PMID: 24009239.
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    24. 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. 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. PMID: 23680766.
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    25. El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP. 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. PMID: 23583224.
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    26. Dohil R, Cabrera BL, Gangoiti JA, Barshop BA, Rioux P. Pharmacokinetics of cysteamine bitartrate following intraduodenal delivery. Fundam Clin Pharmacol. 2014 Apr; 28(2):136-43. PMID: 23113697.
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    27. 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. 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. PMID: 22424739.
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    28. 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, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011 Aug 14; 43(9):883-6. PMID: 21841779.
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    29. Lam C, Desviat LR, Perez-Cerdá C, Ugarte M, Barshop BA, Cederbaum S. 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. PMID: 21549625.
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    30. Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL. Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol Genet Metab. 2011 Feb; 102(2):218-21. PMID: 21071250.
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    31. Gangoiti JA, Fidler M, Cabrera BL, Schneider JA, Barshop BA, Dohil R. Pharmacokinetics of enteric-coated cysteamine bitartrate in healthy adults: a pilot study. Br J Clin Pharmacol. 2010 Sep; 70(3):376-82. PMID: 20716238.
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    32. Dohil R, Gangoiti JA, Cabrera BL, Fidler M, Schneider JA, Barshop BA. Long-term treatment of cystinosis in children with twice-daily cysteamine. J Pediatr. 2010 May; 156(5):823-7. PMID: 20138296.
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    33. Dohil R, Fidler M, Gangoiti JA, Kaskel F, Schneider JA, Barshop BA. Twice-daily cysteamine bitartrate therapy for children with cystinosis. J Pediatr. 2010 Jan; 156(1):71-75.e1-3. PMID: 19775699.
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    34. Vivatrat N, Barshop BA, Jones KL. Severe hypertriglyceridemia and recurrent pancreatitis in a girl with type Ia glycogen storage disease and type III hyperlipoproteinemia. Am J Med Genet A. 2009 Nov; 149A(11):2557-9. PMID: 19842193.
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    35. Barshop BA, Greene CL. Laboratory referral practices in biochemical genetics in the United States. Mol Genet Metab. 2009 Sep-Oct; 98(1-2):149-51. PMID: 19663047.
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    36. Fidler MC, Gangoiti JA, Schneider JA, Barshop BA. Time before isolating cystinotic leukocytes affects reliability of cystine determination. Pediatr Nephrol. 2009 Dec; 24(12):2465-6. PMID: 19396469.
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    37. Nyhan WL, Willis M, Barshop BA, Gangoiti J. 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. PMID: 19357990.
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    38. West M, Nicholls K, Mehta A, Clarke JT, Steiner R, Beck M, Barshop BA, Rhead W, Mensah R, Ries M, Schiffmann R. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol. 2009 May; 20(5):1132-9. PMID: 19357250.
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    39. Lee TM, Addonizio LJ, Barshop BA, Chung WK. Unusual presentation of propionic acidaemia as isolated cardiomyopathy. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S97-101. PMID: 19238581.
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    40. 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. Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metab. 2009 Jan; 96(1):38-43. PMID: 19027335.
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    41. 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. Management of a patient with holocarboxylase synthetase deficiency. Mol Genet Metab. 2008 Dec; 95(4):201-5. PMID: 18974016.
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    42. Barshop BA, Summar ML. Attitudes regarding vaccination among practitioners of clinical biochemical genetics. Mol Genet Metab. 2008 Sep-Oct; 95(1-2):1-2. PMID: 18816884.
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    43. 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. Organic anion transporter 3 contributes to the regulation of blood pressure. J Am Soc Nephrol. 2008 Sep; 19(9):1732-40. PMID: 18508962.
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    44. Eraly SA, Vallon V, Rieg T, Gangoiti JA, Wikoff WR, Siuzdak G, Barshop BA, Nigam SK. Multiple organic anion transporters contribute to net renal excretion of uric acid. Physiol Genomics. 2008 Apr 22; 33(2):180-92. PMID: 18270321.
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    45. 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. 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. PMID: 18155630.
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    46. Lien J, Nyhan WL, Barshop BA. Fatal initial adult-onset presentation of urea cycle defect. Arch Neurol. 2007 Dec; 64(12):1777-9. PMID: 18071043.
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    47. Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G. Metabolomics identifies perturbations in human disorders of propionate metabolism. Clin Chem. 2007 Dec; 53(12):2169-76. PMID: 17951291.
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    48. Wolfe LA, Finegold DN, Vockley J, Walters N, Chambaz C, Suormala T, Koch HG, Matern D, Barshop BA, Cropcho LJ, Baumgartner MR, Gibson KM. Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Pediatrics. 2007 Nov; 120(5):e1335-40. PMID: 17908719.
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    49. Sethi R, Barshop B, Stucky ER. Vomiting-again? J Hosp Med. 2007 May; 2(3):189-93. PMID: 17551951.
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    50. Barshop BA, Gangoiti JA. Analysis of coenzyme Q in human blood and tissues. Mitochondrion. 2007 Jun; 7 Suppl:S89-93. PMID: 17485249.
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    51. Fidler MC, Barshop BA, Gangoiti JA, Deutsch R, Martin M, Schneider JA, Dohil R. Pharmacokinetics of cysteamine bitartrate following gastrointestinal infusion. Br J Clin Pharmacol. 2007 Jan; 63(1):36-40. PMID: 17229040.
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    52. Dohil R, Fidler M, Barshop BA, Gangoiti J, Deutsch R, Martin M, Schneider JA. Understanding intestinal cysteamine bitartrate absorption. J Pediatr. 2006 Jun; 148(6):764-9. PMID: 16769383.
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    53. Khanna A, Hart M, Nyhan WL, Hassanein T, Panyard-Davis J, Barshop BA. Domino liver transplantation in maple syrup urine disease. Liver Transpl. 2006 May; 12(5):876-82. PMID: 16628687.
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    54. 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. 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. PMID: 16354673.
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    55. Barshop BA, Khanna A. Domino hepatic transplantation in maple syrup urine disease. N Engl J Med. 2005 Dec 01; 353(22):2410-1. PMID: 16319396.
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    56. Dohil R, Fidler M, Barshop B, Newbury R, Sellers Z, Deutsch R, Schneider J. Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. Pediatr Nephrol. 2005 Dec; 20(12):1786-93. PMID: 16133039.
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    57. 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. Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. Hum Mutat. 2005 Apr; 25(4):413. PMID: 15776412.
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    58. Moore DF, Ye F, Brennan ML, Gupta S, Barshop BA, Steiner RD, Rhead WJ, Brady RO, Hazen SL, Schiffmann R. 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. PMID: 15390234.
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    59. Barshop BA. Metabolomic approaches to mitochondrial disease: correlation of urine organic acids. Mitochondrion. 2004 Sep; 4(5-6):521-7. PMID: 16120410.
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    60. Barshop BA, Naviaux RK, McGowan KA, Levine F, Nyhan WL, Loupis-Geller A, Haas RH. Chronic treatment of mitochondrial disease patients with dichloroacetate. Mol Genet Metab. 2004 Sep-Oct; 83(1-2):138-49. PMID: 15464428.
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    61. McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ. The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol. 2004 Apr; 61(4):570-4. PMID: 15096407.
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    62. Wang G, Medeiros FA, Barshop BA, Weinreb RN. Total plasma homocysteine and primary open-angle glaucoma. Am J Ophthalmol. 2004 Mar; 137(3):401-6. PMID: 15013860.
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    63. 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. 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. PMID: 12815590.
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    64. Farag NH, Barshop BA, Mills PJ. Effects of estrogen and psychological stress on plasma homocysteine levels. Fertil Steril. 2003 Feb; 79(2):256-60. PMID: 12568831.
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    65. Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. Pyruvate carboxylase deficiency--insights from liver transplantation. Mol Genet Metab. 2002 Sep-Oct; 77(1-2):143-9. PMID: 12359142.
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    66. O'Donnell J, Finer NN, Rich W, Barshop BA, Barrington KJ. Role of L-carnitine in apnea of prematurity: a randomized, controlled trial. Pediatrics. 2002 Apr; 109(4):622-6. PMID: 11927706.
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    67. Marsden D, Nyhan WL, Barshop BA. 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. PMID: 11686503.
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    68. Barshop BA, Nyhan WL, Climent C, Rubio V. 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. PMID: 11596657.
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    69. Spruijt L, Naviaux RK, McGowan KA, Nyhan WL, Sheean G, Haas RH, Barshop BA. Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate. Muscle Nerve. 2001 Jul; 24(7):916-24. PMID: 11410919.
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    70. Graf WD, Marin-Garcia J, Gao HG, Pizzo S, Naviaux RK, Markusic D, Barshop BA, Courchesne E, Haas RH. Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. J Child Neurol. 2000 Jun; 15(6):357-61. PMID: 10868777.
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    71. Barshop BA, Nyhan WL, Naviaux RK, McGowan KA, Friedlander M, Haas RH. Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. Mol Genet Metab. 2000 Jan; 69(1):64-8. PMID: 10655159.
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    72. O'Brien DP, Barshop BA, Faunt KK, Johnson GC, Gibson KM, Shelton GD. 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. PMID: 10604140.
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    73. Naviaux RK, Markusic D, Barshop BA, Nyhan WL, Haas RH. Sensitive assay for mitochondrial DNA polymerase gamma. Clin Chem. 1999 Oct; 45(10):1725-33. PMID: 10508117.
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    74. Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, Haas RH. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol. 1999 Jan; 45(1):54-8. PMID: 9894877.
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    75. Shelton GD, Nyhan WL, Kass PH, Barshop BA, Haas RH. Analysis of organic acids, amino acids, and carnitine in dogs with lipid storage myopathy. Muscle Nerve. 1998 Sep; 21(9):1202-5. PMID: 9703448.
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    76. Nyhan WL, Rice-Kelts M, Klein J, Barshop BA. Treatment of the acute crisis in maple syrup urine disease. Arch Pediatr Adolesc Med. 1998 Jun; 152(6):593-8. PMID: 9641714.
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    77. Haas RH, Barshop BA. Diet change in the management of metabolic encephalomyopathies. Biofactors. 1998; 7(3):259-62. PMID: 9568263.
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    78. Haas RH, Light M, Rice M, Barshop BA. Oxidative metabolism in Rett syndrome: 1. Clinical studies. Neuropediatrics. 1995 Apr; 26(2):90-4. PMID: 7566464.
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    79. Marsden D, Barshop BA, Capistrano-Estrada S, Rice M, Prodanos C, Sartoris D, Wolff J, Jones KL, Spector S, Nyhan WL. Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways. Biochem Med Metab Biol. 1994 Aug; 52(2):145-54. PMID: 7993663.
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    80. Page T, Barshop B, Yu AL, Nyhan WL. Treatment of Lesch-Nyhan syndrome with AICAR. Adv Exp Med Biol. 1994; 370:353-6. PMID: 7660927.
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    81. Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H, Dixon JE. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nat Genet. 1992 Apr; 1(1):59-63. PMID: 1302001.
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    82. Ko FJ, Nyhan WL, Wolff J, Barshop B, Sweetman L. 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism. Pediatr Res. 1991 Oct; 30(4):322-6. PMID: 1956714.
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    83. Barshop BA, Adamson DT, Vellom DC, Rosen F, Epstein BL, Seegmiller JE. 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. PMID: 1659248.
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    84. Barshop BA, Yoshida I, Ajami A, Sweetman L, Wolff JA, Sweetman FR, Prodanos C, Smith M, Nyhan WL. Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. Pediatr Res. 1991 Jul; 30(1):15-22. PMID: 1909779.
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    85. Barshop BA, Wolff J, Nyhan WL, Yu A, Prodanos C, Jones G, Sweetman L, Leslie J, Holm J, Green R. Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am J Med Genet. 1990 Feb; 35(2):222-8. PMID: 2309761.
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    86. Barshop BA, Alberts AS, Gruber HE. Kinetic studies of mutant human adenylosuccinase. Biochim Biophys Acta. 1989 Nov 09; 999(1):19-23. PMID: 2804136.
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    87. Nyhan WL, Mascarello J, Barshop B, Doroski D, Hirschhorn K. Duplication of 16q and deletion of 15q. Am J Med Genet. 1989 Oct; 34(2):183-6. PMID: 2816995.
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    88. Wolff JA, Barshop B, Nyhan WL, Leslie J, Seegmiller JE, Gruber H, Garst M, Winter S, Michals K, Matalon R. 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. PMID: 2771520.
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    89. Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR. Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am J Neuroradiol. 1989 Mar-Apr; 10(2):315-21. PMID: 2494850.
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    90. Barshop BA, Breuer J, Holm J, Leslie J, Nyhan WL. Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia. J Inherit Metab Dis. 1989; 12(1):72-9. PMID: 2501586.
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