Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD) by Laemmle, Alexander, Gallagher, Renata C, Keogh, Adrian, Stricker, Tamar, Gautschi, Matthias, Nuoffer, Jean-Marc, Baumgartner, Matthias R, Häberle, Johannes

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ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype by Lerner, Shaul, Eilam, Raya, Adler, Lital, Baruteau, Julien, Kreiser, Topaz, Tsoory, Michael, Brandis, Alexander, Mehlman, Tevie, Ryten, Mina, Botia, Juan A., Ruiz, Sonia Garcia, Garcia, Alejandro Cisterna, Dionisi-Vici, Carlo, Ranucci, Giusy, Spada, Marco, Mazkereth, Ram, McCarter, Robert, Izem, Rima, Balmat, Thomas J., Richesson, Rachel, Gazit, Ehud, Nagamani, Sandesh C. S., Erez, Ayelet

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

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Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders by Lichter-Konecki, Uta, Sanz, Jacqueline H, McCarter, Robert

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Reduced occurrence of early atopic dermatitis because of immunoactive prebiotics among low-atopy-risk infants by Grüber, Christoph, MD, PhD, van Stuijvenberg, Margriet, MD, MPH, Mosca, Fabio, MD, PhD, NICU, Moro, Guido, MD, PhD, Chirico, Gaetano, MD, PhD, Braegger, Christian P., MD, Riedler, Josef, MD, PhD, Boehm, Günther, MD, PhD, Wahn, Ulrich, MD, PhD

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Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder by Lee, Brendan, Diaz, George A, Rhead, William, Lichter-Konecki, Uta, Feigenbaum, Annette, Berry, Susan A, Le Mons, Cindy, Bartley, James A, Longo, Nicola, Nagamani, Sandesh C, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, 2nd, J Lawrence, Schulze, Andreas, Vockley, Jerry, Vockley, Gerard, Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, Douglas A, Marino, Miguel, Coakley, Dion F, Mokhtarani, Masoud, Scharschmidt, Bruce F

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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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Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders by Posset, Roland, Garbade, Sven F., Gleich, Florian, Nagamani, Sandesh C.S., Gropman, Andrea L., Epp, Friederike, Ramdhouni, Nesrine, Druck, Ann-Catrin, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Schulze, Andreas, García-Cazorla, Angeles, Ficicioglu, Can, Harding, Cary O., Lam, Christina, Coughlin, Curtis R., Le Mons, Cynthia, Wong, Derek, Dobbelaere, Dries, Diaz, George A., Berry, Gerard T., Enns, Gregory M., Wilkening, Greta, Lawrence Merritt, J., Seminara, Jennifer, Konczal, Laura, Burrage, Lindsay C., Breilyn, Margo, Lindner, Martin, Baumgartner, Matthias R., Mew, Nicholas Ah, Gallagher, Renata C., McCandless, Shawn E., Berry, Susan A., Stricker, Tamar

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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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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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Vulvovaginitis by Stricker, Tamar

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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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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders by Posset, Roland, Garbade, Sven F, Gleich, Florian, Gropman, Andrea L, de Lonlay, Pascale, Hoffmann, Georg F, Garcia-Cazorla, Angeles, Nagamani, Sandesh C S, Baumgartner, Matthias R, Schulze, Andreas, Dobbelaere, Dries, Yudkoff, Marc, Kölker, Stefan, Zielonka, Matthias

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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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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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Cross-sectional observational study of 208 patients with non-classical urea cycle disorders by Rüegger, Corinne M., Lindner, Martin, Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Das, Anibh, Gautschi, Matthias, Glahn, Esther M., Grünert, Sarah C., Hennermann, Julia, Hochuli, Michel, Huemer, Martina, Karall, Daniela, Kölker, Stefan, Lachmann, Robin H., Lotz-Havla, Amelie, Möslinger, Dorothea, Nuoffer, Jean-Marc, Plecko, Barbara, Rutsch, Frank, Santer, René, Spiekerkoetter, Ute, Staufner, Christian, Stricker, Tamar, Wijburg, Frits A., Williams, Monique, Burgard, Peter, Häberle, Johannes

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Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency by Laemmle, Alexander, Stricker, Tamar, Häberle, Johannes

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Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database by Sen, Kuntal, Izem, Rima, Long, Yuelin, Jiang, Jiji, Konczal, Laura L., McCarter, Robert J., Mew, Nicholas Ah, Baumgartner, Matthias R., Berry, Gerard, Berry, Susan A., Burgard, Peter, Burrage, Lindsay C., Cederbaum, Stephen, Coughlin, Curtis, Diaz, George A., Enns, Gregory, Gallagher, Renata C., Harding, Cary O., Hoffmann, Georg F., Le Mons, Cynthia, McCandless, Shawn E., Merritt, J. Lawrence, Nagamani, Sandesh C. S., Schulze, Andreas, Seminara, Jennifer, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, Weisfeld‐Adams, James D., Wong, Derek, Yudkoff, Marc, Gropman, Andrea L., Bedoyan, Jirair K.

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