Metabolic and Mitochondrial Medicine
Rady Children's Specialists of San Diego
Rady Children's Specialists
University of Washington School of Medicine
UC San Diego
UC San Diego
Metabolic and Mitochondrial Medicine, Pediatrics
Biallelic loss of human CTNNA2, encoding Î±N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, KaymakÃ§alan H, YÄ±lmaz 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
Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.
Li CQ, Barshop BA, Feigenbaum A, Khanna PC
Promises and pitfalls of untargeted metabolomics.
Gertsman I, Barshop BA
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.
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
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
Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Langman CB, Barshop BA, DeschÃªnes 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, BÃ¶hm T, Meyburg J, Zangerl K, Mayorandan S, Burgard P, DÃ¼rr UH, Rosenkranz B, Rennecke J, Derbinski J, Yudkoff M, Hoffmann GF
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
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
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
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, AraÃºjo 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
A model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E. coli K-12 MG1655 that is biochemically and thermodynamically consistent.
McCloskey D, Gangoiti JA, King ZA, Naviaux RK, Barshop BA, Palsson BO, Feist AM
Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD.
Okamura DM, Bahrami NM, Ren S, Pasichnyk K, Williams JM, Gangoiti JA, Lopez-Guisa JM, Yamaguchi I, Barshop BA, Duffield JS, Eddy AA
Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease.
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
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
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
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP
Pharmacokinetics of cysteamine bitartrate following intraduodenal delivery.
Dohil R, Cabrera BL, Gangoiti JA, Barshop BA, Rioux P
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
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
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
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
45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?
Lam C, Desviat LR, Perez-CerdÃ¡ C, Ugarte M, Barshop BA, Cederbaum S
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