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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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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336 BRACHYDACTYLY A1: IS IT A SINGLE CONDITION? von Cusmano-Ozog, K., Chen, K., Kwan, A., Hudgins, L.

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82 COBALAMIN C DISEASE AND EXPANDED NEWBORN SCREENING: THE CALIFORNIA EXPERIENCE von Cusmano-Ozog, K., Lorey, F., Levine, S., Martin, M., Nicholas, E., Packman, S., Rosenblatt, D. S., Cowan, T. M., Enns, G. M.

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Brachydactyly A1: Is it a Single Condition? von Cusmano-Ozog, K., Chen, K., Kwan, A., Hudgins, L.

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COBALAMIN C DISEASE AND EXPANDED NEWBORN SCREENING: THE CALIFORNIA EXPERIENCE: 82 von Cusmano-Ozog, K., Lorey, F., Levine, S., Martin, M., Nicholas, E., Packman, S., Rosenblatt, D. S., Cowan, T. M., Enns, G. M.

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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2 von Zarate, Y.A, Bosanko, K.A, Thomas, M.A, Miller, D.T, Cusmano‐Ozog, K, Martinez‐Monseny, A, Curry, C.J, Graham, J.M, Velsher, L, Bekheirnia, M.R, Seidel, V, Dedousis, D, Mitchell, A.L, DiMarino, A.M, Riess, A, Balasubramanian, M, Fish, J.L, Caffrey, A.R, Fleischer, N, Pierson, T.M, Lacro, R.V

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Recent tPA administration can cause pseudo‐hyperargininemia and may mimic arginase deficiency or arginine supplementation von Cusmano‐Ozog, Kristina P., Renck, Alicia K., Tise, Christina G.

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Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status von Enns, Gregory M, Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K, Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M

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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism von Ehmke, Nadja, Cusmano-Ozog, Kristina, Koenig, Rainer, Holtgrewe, Manuel, Nur, Banu, Mihci, Ercan, Babcock, Holly, Gonzaga-Jauregui, Claudia, Overton, John D., Xiao, Jing, Martinez, Ariel F., Muenke, Maximilian, Balzer, Alexander, Jochim, Judith, El Choubassi, Naji, Fischer-Zirnsak, Björn, Huber, Céline, Kornak, Uwe, Elsea, Sarah H., Cormier-Daire, Valérie, Ferreira, Carlos R.

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Data from: Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status von Enns, Gregory M., Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K., Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M.

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GSH_project_MasterList von Enns, Gregory M., Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K., Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M.

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