Metabolic and Mitochondrial Medicine
UC San Diego Health
Washington University School of Medicine
UC San Diego
UC San Diego
Metabolic and Mitochondrial Medicine, Pediatrics
Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys.
Chan L, Wichart J, Kiang T, Khurana R, Gangoiti JA, Barshop BA, Midgley J
In memoriam: Jerry Allan Schneider, 1937-2021.
Barshop BA, Jonas AJ, Gahl WA, Thoene JG
Tumor metabolism and neurocognition in CNS lymphoma.
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
Dairy Fat Intake, Plasma Pentadecanoic Acid, and Plasma Iso-heptadecanoic Acid Are Inversely Associated With Liver Fat in Children.
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
Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride.
Gaston G, Gangoiti JA, Winn S, Chan B, Barshop BA, Harding CO, Gillingham MB
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
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
Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes.
Concepcion J, Chen K, Saito R, Gangoiti J, Mendez E, Nikita ME, Barshop BA, Natarajan L, Sharma K, Kim JJ
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.
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
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.
Nyhan WL, McGowan K, Barshop BA
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz 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
Promises and pitfalls of untargeted metabolomics.
Gertsman I, Barshop BA
Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.
Li CQ, Barshop BA, Feigenbaum A, Khanna PC
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
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
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Quinonez SC, Seeley AH, Lam C, Glover TW, Barshop BA, Keegan CE
The mPEG-PCL Copolymer for Selective Fermentation of Staphylococcus lugdunensis Against Candida parapsilosis in the Human Microbiome.
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
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
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
Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes.
Gertsman I, Johnson WS, Nishikawa C, Gangoiti JA, Holmes B, Barshop BA
p300 is not required for metabolic adaptation to endurance exercise training.
LaBarge SA, Migdal CW, Buckner EH, Okuno H, Gertsman I, Stocks B, Barshop BA, Nalbandian SR, Philp A, McCurdy CE, Schenk S
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.
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
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.
Shepard PJ, Barshop BA, Baumgartner MR, Hansen JB, Jepsen K, Smith EN, Frazer KA
Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.
Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.
Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan WL
Validation of a dual LC-HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics.
Gertsman I, Gangoiti JA, Barshop BA
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A
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