A longitudinal study of urea cycle disorders by Batshaw, Mark L., Tuchman, Mendel, Summar, Marshall, Seminara, Jennifer

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Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency by Burrage, Lindsay C, Sun, Qin, Elsea, Sarah H, Jiang, Ming-Ming, Nagamani, Sandesh C S, Frankel, Arthur E, Stone, Everett, Alters, Susan E, Johnson, Dale E, Rowlinson, Scott W, Georgiou, George, Lee, Brendan H

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Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ by Ah Mew, Nicholas, MD, Krivitzky, Lauren, PhD, McCarter, Robert, ScD, Batshaw, Mark, MD, Tuchman, Mendel, MD

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Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders by Burrage, Lindsay C., Jain, Mahim, Gandolfo, Laura, Lee, Brendan H., Nagamani, Sandesh C.S.

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A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria by Nagamani, Sandesh C.S., Shchelochkov, Oleg A., Mullins, Mary A., Carter, Susan, Lanpher, Brendan C., Sun, Qin, Kleppe, Soledad, Erez, Ayelet, O'Brian Smith, E., Marini, Juan C., Lee, Brendan

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Effect of Obesity and Renal Insufficiency On Toxicity of High-Dose Melphalan for Multiple Myeloma by Vogl, Dan T., Paul, Thomas M., Stoopler, Eric, Salazar, German, Davis, Lisa, Kapoor, Shiv, Zemel, Babette, Yudkoff, Mark, Jackson, Gail, Basel-Brown, Lisa, Rockwell, Kenneth, Daikhin, Evgueni, Swider, Cezary R., Washington, John, Raguza-Lopez, Maria, Tenhave, Thomas, Stadtmauer, Edward A.

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A role for bacterial urease in gut dysbiosis and Crohn's disease by Ni, Josephine, Shen, Ting-Chin David, Chen, Eric Z, Bittinger, Kyle, Bailey, Aubrey, Roggiani, Manuela, Sirota-Madi, Alexandra, Friedman, Elliot S, Chau, Lillian, Lin, Andrew, Nissim, Ilana, Scott, Justin, Lauder, Abigail, Hoffmann, Christopher, Rivas, Gloriany, Albenberg, Lindsey, Baldassano, Robert N, Braun, Jonathan, Xavier, Ramnik J, Clish, Clary B, Yudkoff, Marc, Li, Hongzhe, Goulian, Mark, Bushman, Frederic D, Lewis, James D, Wu, Gary D

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Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders by Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C. S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffmann, Georg F., Burgard, Peter, Schulze, Andreas, McCandless, Shawn E., Garcia‐Cazorla, Angeles, Seminara, Jennifer, Garbade, Sven F., Kölker, Stefan, Lee, Brendan, Harding, Cary O., Coughlin, Curtis R., Le Mons, Cynthia, Dobbelaere, Dries, Leão Teles, Elisa, Cortès‐Saladelafont, Elisenda, Gleich, Florian, Eyskens, Francois, Enns, Gregory, Wilkening, Greta N., Barić, Ivo, Lawrence Merritt, J., Heringer, Jana, Blasco‐Alonso, Javier, Zeman, Jiri, Häberle, Johannes, Sykut‐Cegielska, Jolanta, Djordjevic, Maja, Batshaw, Mark L., Summar, Marshall, Freisinger, Peter, Gallagher, Renata C., Berry, Susan A., Waisbren, Susan, Stricker, Tamar

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Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency by Gyato, Kunsang, Wray, J., Huang, Z. J., Yudkoff, M., Batshaw, Mark L.

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Biochemical markers and neuropsychological functioning in distal urea cycle disorders by Waisbren, Susan E., Cuthbertson, David, Burgard, Peter, Holbert, Amy, McCarter, Robert, Cederbaum, Stephen

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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases by Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L., Baumgartner, Matthias R., McCandless, Shawn E., Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F., Kölker, Stefan, Burgard, Peter, Berry, Susan A., Burrage, Lindsay, Coughlin, Curtis, Diaz, George A., Gallagher, Renata C., Gropman, Andrea, Harding, Cary O., Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J., Nagamani, Sandesh C. S., Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Bari, Ivo, Bosch, Annet M., Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L., Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M., Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H., Williams, Monique, Zeman, Jiri

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Cross-sectional multicenter study of patients with urea cycle disorders in the United States by Tuchman, Mendel, Lee, Brendan, Lichter-Konecki, Uta, Summar, Marshall L., Yudkoff, Marc, Cederbaum, Stephen D., Kerr, Douglas S., Diaz, George A., Seashore, Margaretta R., Lee, Hye-Seung, McCarter, Robert J., Krischer, Jeffrey P., Batshaw, Mark L.

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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium by Seminara, Jennifer, Tuchman, Mendel, Krivitzky, Lauren, Krischer, Jeffrey, Lee, Hye-Seung, LeMons, Cynthia, Baumgartner, Matthias, Cederbaum, Stephen, Diaz, George A., Feigenbaum, Annette, Gallagher, Renata C., Harding, Cary O., Kerr, Douglas S., Lanpher, Brendan, Lee, Brendan, Lichter-Konecki, Uta, McCandless, Shawn E., Merritt, J. Lawrence, Oster-Granite, Mary Lou, Seashore, Margretta R., Stricker, Tamar, Summar, Marshall, Waisbren, Susan, Yudkoff, Marc, Batshaw, Mark L.

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Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and num... by Buerger, Corinna, Garbade, Sven F., Dietrich Alber, Fabienne, Waisbren, Susan E., McCarter, Robert, Kölker, Stefan, Burgard, Peter, Ah Mew, Nicholas, Batshaw, Mark L., Baumgartner, Matthias R., Berry, Susan A., Coughlin, Curtis, Cederbaum, Stephen, Diaz, George A., Feigenbaum, Annette, Gallagher, Renata C., Harding, Cary O., Hoffmann, Georg, Kerr, Douglas S., Lee, Brendan, Le Mons, Cynthia, Lichter‐Konecki, Uta, McCandless, Shawn E., Lawrence Merritt, J., Nagamani, Sandesh CS, Schulze, Andreas, Seashore, Margretta R., Stricker, Tamar, Summar, Marshall L., Tuchman, Mendel, Waisbren, Susan, Weisfeld‐Adams, James, Wong, Derek, Yudkoff, Marc

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Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders by DeBrosse, Catherine, Nanga, Ravi Prakash Reddy, Wilson, Neil, D'Aquilla, Kevin, Elliott, Mark, Hariharan, Hari, Yan, Felicia, Wade, Kristin, Nguyen, Sara, Worsley, Diana, Parris-Skeete, Chevonne, McCormick, Elizabeth, Xiao, Rui, Cunningham, Zuela Zolkipli, Fishbein, Lauren, Nathanson, Katherine L, Lynch, David R, Stallings, Virginia A, Yudkoff, Marc, Falk, Marni J, Reddy, Ravinder, McCormack, Shana E

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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases by Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Ah Mew, Nicholas, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter

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In vivo nitrogen metabolism in ornithine transcarbamylase deficiency by Yudkoff, M, Daikhin, Y, Nissim, I, Jawad, A, Wilson, J, Batshaw, M

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Cross-Sectional Multi-Center Study of Patients with Urea Cycle Disorders in the United States by Tuchman, Mendel, Lee, Brendan, Lichter-Konecki, Uta, Summar, Marshall L., Yudkoff, Marc, Cederbaum, Stephen D., Kerr, Douglas S., Diaz, George A., Seashore, Margaretta R., Lee, Hye-Seung, McCarter, Robert J., Krischer, Jeffrey P., Batshaw, Mark L.

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1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency by Gropman, A.L., Fricke, S.T., Seltzer, R.R., Hailu, A., Adeyemo, A., Sawyer, A., van Meter, J., Gaillard, W.D., McCarter, R., Tuchman, M., Batshaw, M.

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Genotype spectrum of ornithine transcarbamylase deficiency: Correlation with the clinical and biochemical phenotype by McCullough, Beth A., Yudkoff, Marc, Batshaw, Mark L., Wilson, James M., Raper, Steven E., Tuchman, Mendel

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