Deep learning from multiple experts improves identification of amyloid neuropathologies von Wong, Daniel R, Tang, Ziqi, Mew, Nicholas C, Das, Sakshi, Athey, Justin, McAleese, Kirsty E, Kofler, Julia K, Flanagan, Margaret E, Borys, Ewa, White, 3rd, Charles L, Butte, Atul J, Dugger, Brittany N, Keiser, Michael J

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Adding Stochastic Negative Examples into Machine Learning Improves Molecular Bioactivity Prediction von Cáceres, Elena L, Mew, Nicholas C, Keiser, Michael J

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Additional file 2 of Deep learning from multiple experts improves identification of amyloid neuropathologies von Wong, Daniel R., Tang, Ziqi, Mew, Nicholas C., Das, Sakshi, Athey, Justin, McAleese, Kirsty E., Kofler, Julia K., Flanagan, Margaret E., Borys, Ewa, White, Charles L., Butte, Atul J., Dugger, Brittany N., Keiser, Michael J.

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

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Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises von Chanvanichtrakool, Mongkol, Schreiber, John M., Chen, Wei-Liang, Barber, John, Zhang, Anqing, Ah Mew, Nicholas, Schulze, Andreas, Wilkening, Greta, Nagamani, Sandesh C.S., Gropman, Andrea

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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders von 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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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases von 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 von Waisbren, Susan E., Cuthbertson, David, Burgard, Peter, Holbert, Amy, McCarter, Robert, Cederbaum, Stephen

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Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy von Raina, Rupesh, Bedoyan, Jirair K., Lichter-Konecki, Uta, Jouvet, Philippe, Picca, Stefano, Mew, Nicholas Ah, Machado, Marcel C., Chakraborty, Ronith, Vemuganti, Meghana, Grewal, Manpreet K., Bunchman, Timothy, Sethi, Sidharth Kumar, Krishnappa, Vinod, McCulloch, Mignon, Alhasan, Khalid, Bagga, Arvind, Basu, Rajit K., Schaefer, Franz, Filler, Guido, Warady, Bradley A.

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

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Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders von Zielonka, Matthias, Kölker, Stefan, Garbade, Sven F., Gleich, Florian, Nagamani, Sandesh C.S., Gropman, Andrea L., Druck, Ann-Catrin, Ramdhouni, Nesrine, Göde, Laura, Hoffmann, Georg F., Posset, Roland, Schulze, Andreas, Ficicioglu, Can, Harding, Cary O., Lam, Christina, Coughlin, Curtis R., Wong, Derek, Diaz, George A., Berry, Gerard T., Enns, Gregory M., Wilkening, Greta, Seminara, Jennifer, Konczal, Laura, Lawrence Merritt, J., Burrage, Lindsay C., Breilyn, Margo, Baumgartner, Matthias R., Mew, Nicholas Ah, Gallagher, Renata C., McCandless, Shawn E., Berry, Susan A., Stricker, Tamar

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From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria von Zielonka, Matthias, Garbade, Sven F., Gleich, Florian, Okun, Jürgen G., Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Kölker, Stefan, Posset, Roland, Ah Mew, Nicholas, Burrage, Lindsay C., Schulze, Andreas, Berry, Susan A., Baumgartner, Matthias R., Diaz, George A., Merritt, J. Lawrence, Bedoyan, Jirair K., Wong, Derek, Harding, Cary O., Yudkoff, Marc, Garcia‐Cazorla, Angeles, Cortès‐Saladelafont, Elisenda, Lund, Allan M., Dionisi‐Vici, Carlo, Burlina, Alberto B., Morris, Andrew A., Freisinger, Peter, Walter, Magdalena E., Jalan, Anil, Schiff, Manuel, Dobbelaere, Dries, Bosch, Annet M., Ioannou, Harikleia, Barić, Ivo

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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders von Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta, Wagenmakers, Margreet, Wijburg, Frits A.

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Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders von 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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Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency von 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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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder von Kumble, Smitha, Levy, Amanda M., Punetha, Jaya, Gao, Hua, Ah Mew, Nicholas, Anyane‐Yeboa, Kwame, Benke, Paul J., Berger, Sara M., Bjerglund, Lise, Campos‐Xavier, Belinda, Ciliberto, Michael, Cohen, Julie S., Comi, Anne M., Curry, Cynthia, Damaj, Lena, Denommé‐Pichon, Anne‐Sophie, Emrick, Lisa, Faivre, Laurence, Fasano, Mary Beth, Fiévet, Alice, Finkel, Richard S., García‐Miñaúr, Sixto, Gerard, Amanda, Gomez‐Puertas, Paulino, Guillen Sacoto, Maria J., Hoffman, Trevor L., Howard, Lillian, Iglesias, Alejandro D., Izumi, Kosuke, Larson, Austin, Leiber, Anja, Lozano, Reymundo, Marcos‐Alcalde, Iñigo, Mintz, Cassie S., Mullegama, Sureni V., Møller, Rikke S., Odent, Sylvie, Oppermann, Henry, Ostergaard, Elsebet, Pacio‐Míguez, Marta, Palomares‐Bralo, Maria, Parikh, Sumit, Paulson, Anna M., Platzer, Konrad, Posey, Jennifer E., Potocki, Lorraine, Revah‐Politi, Anya, Rio, Marlene, Ritter, Alyssa L., Robinson, Scott, Rosenfeld, Jill A., Santos‐Simarro, Fernando, Sousa, Sérgio B., Wéber, Mathys, Xie, Yili, Chung, Wendy K., Brown, Natasha J., Tümer, Zeynep

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Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database von 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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Early prediction of phenotypic severity in Citrullinemia Type 1 von Zielonka, Matthias, Kölker, Stefan, Gleich, Florian, Stützenberger, Nicolas, Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Garbade, Sven F., Posset, Roland

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Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency von Scharre, Svenja, Posset, Roland, Garbade, Sven F., Gleich, Florian, Seidl, Marie J., Druck, Ann‐Catrin, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C. S., Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Ah Mew, Nicholas, Baumgartner, Matthias R., Berry, Gerard T., Berry, Susan A., Burrage, Lindsay, Diaz, George A., Ficicioglu, Can, Kisin, Genya, Konczal, Laura, Lam, Christina, McCandless, Shawn E., Merritt, J. Lawrence, Schulze, Andreas, Walter, Magdalena E., Wilson, Ashley, Wong, Derek, Arnaudo, Florence, Augoustides‐Savvopoulou, Persephone, Barić, Ivo, Bosch, Annet M., Cano, Aline, Chien, Yin‐Hsiu, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Eyskens, Francois, Freisinger, Peter, Garcia‐Cazorla, Angeles, Honzik, Tomas, Karall, Daniela, Lund, Allan M., Murphy, Elaine, Santer, René, Schiff, Manuel, Skouma, Anastasia, Sykut‐Cegielska, Jolanta, Wijburg, Frits A., Zeman, Jiri

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