Update on transcobalamin deficiency: clinical presentation, treatment and outcome von Trakadis, Y. J., Alfares, A., Bodamer, O. A., Buyukavci, M., Christodoulou, J., Connor, P., Glamuzina, E., Gonzalez-Fernandez, F., Bibi, H., Echenne, B., Manoli, I., Mitchell, J., Nordwall, M., Prasad, C., Scaglia, F., Schiff, M., Schrewe, B., Touati, G., Tchan, M. C., Varet, B., Venditti, C. P., Zafeiriou, D., Rupar, C. A., Rosenblatt, D. S., Watkins, D., Braverman, N.

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Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery von Sénac, J S, Chandler, R J, Sysol, J R, Li, L, Venditti, C P

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Hydroxocobalamin dose escalation improves metabolic control in cblC von Carrillo-Carrasco, N, Sloan, J, Valle, D, Hamosh, A, Venditti, C. P

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MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia von Baker, E H, Sloan, J L, Hauser, N S, Gropman, A L, Adams, D R, Toro, C, Manoli, I, Venditti, C P

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Genetic and genomic systems to study methylmalonic acidemia von Chandler, R.J., Venditti, C.P.

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Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1 von Chandler, R J, Tarasenko, T N, Cusmano-Ozog, K, Sun, Q, Sutton, V R, Venditti, C P, McGuire, P J

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Enamel defects and salivary methylmalonate in methylmalonic acidemia von Bassim, CW, Wright, JT, Guadagnini, JP, Muralidharan, R, Sloan, J, Domingo, DL, Venditti, CP, Hart, TC

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Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome‐c oxidase deficiency von Venditti, C. P., Harris, M. C., Huff, D., Peterside, I., Munson, D., Weber, H. S., Rome, J., Kaye, E. M., Shanske, S., Sacconi, S., Tay, S., DiMauro, S., Berry, G. T.

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Bacterial carbon-phosphorus lyase: products, rates, and regulation of phosphonic and phosphinic acid metabolism von WACKETT, L. P, SHAMES, S. L, VENDITTI, C. P, WALSH, C. T

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Liver-Directed Recombinant Adeno-Associated Viral Gene Delivery Rescues a Lethal Mouse Model of Methylmalonic Acidemia and Provides Long-Term Phenotypic Correction von CARRILLO-CARRASCO, Nuria, CHANDLER, Randy J, CHANDRASEKARAN, Suma, VENDITTI, Charles P

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DNA markers associated with high versus low IQ: the IQ quantitative trait loci (QTL) project von PLOMIN, R, MCCLEARN, G. E, DANIELS, J, OWEN, M, MCGUFFIN, P, SMITH, D. L, VIGNETTI, S, CHORNEY, M. J, CHORNEY, K, VENDITTI, C. P, KASARDA, S, THOMPSON, L. A, DETTERMAN, D. K

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Class I gene contraction within the HLA-A subregion of the human MHC von Venditti, Charles P., Chorney, Michael J.

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Involvement of the phosphate regulon and the psiD locus in carbon-phosphorus lyase activity of Escherichia coli K-12 von WACKETT, L. P, WANNER, B. L, VENDITTI, C. P, WALSH, C. T

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Mapping and Characterization of Non-HLA Multigene Assemblages in the Human MHC Class I Region von Venditti, Charles P., Harris, James M., Geraghty, Daniel E., Chorney, Michael J.

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Adeno-Associated Virus Serotype 8 Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia von CHANDLER, Randy J, CHANDRASEKARAN, Suma, CARRILLO-CARRASCO, Nuria, SENAC, Julien S, HOFHERR, Sean E, BARRY, Michael A, VENDITTI, Charles P

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P.25 Diet, growth, body composition and resting energy expenditure in propionic acidemia von Myles, JG, Schoenfeld, M, Shchelochkov, OA, Galarreta-Aima, C, Hall, C, Sloan, JL, Ferry, S, Van Ryzin, C, Chen, K, Manoli, I, Venditti, CP

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Disorders of branched chain amino acid metabolism von Manoli, I., Venditti, C.P.

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The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers von Caterino, Marianna, Chandler, Randy J, Sloan, Jennifer L, Dorko, Kenneth, Cusmano-Ozog, Kristina, Ingenito, Laura, Strom, Stephen C, Imperlini, Esther, Scolamiero, Emanuela, Venditti, Charles P, Ruoppolo, Margherita

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46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis von Venditti, C P, Seese, N K, Gerhard, G S, Ten Elshof, A E, Chorney, K A, Mowrey, P N, Lacey, P G, Knoll, J H, Chorney, M J

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Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis von Venditti, Laura N, Venditti, Charles P, Berry, Gerard T, Kaplan, Paige B, Kaye, Edward M, Glick, Henry, Stanley, Charles A

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