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BMC Medical Genetics|May 2, 2007
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytesRandy J Chandler, Matthew S Tsai, Kenneth Dorko, et al.The Journal of Experimental Biology|March 14, 2009
T3 and the thyroid hormone beta-receptor agonist GC-1 differentially affect metabolic capacity and oxidative damage in rat tissuesP Venditti, G Chiellini, A Bari, et al.The Journal of Endocrinology|April 3, 2010
The TRbeta-selective agonist, GC-1, stimulates mitochondrial oxidative processes to a lesser extent than triiodothyronineP Venditti, G Chiellini, L Di Stefano, et al.Journal of Structural Biology|April 20, 2010
Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemiaGavin E Murphy, Bradley C Lowekamp, Patricia M Zerfas, et al.Pediatrics|November 5, 2003
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysisLaura N Venditti, Charles P Venditti, Gerard T Berry, et al.Ophthalmology|January 31, 2016
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C DeficiencyBrian P Brooks, Amy H Thompson, Jennifer L Sloan, et al.Gene Therapy|October 18, 2013
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1R J Chandler, T N Tarasenko, K Cusmano-Ozog, et al.Human Gene Therapy|October 19, 2010
Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemiaRandy J Chandler, Suma Chandrasekaran, Nuria Carrillo-Carrasco, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2015
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiencyIrini Manoli, Jennifer G Myles, Jennifer L Sloan, et al.JIMD Reports|February 23, 2013
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C diseasePranoot Tanpaiboon, Jennifer L Sloan, Patrick F Callahan, et al.Pageof 18