Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate by Mokhtarani, M., Diaz, G.A., Lichter-Konecki, U., Berry, S.A., Bartley, J., McCandless, S.E., Smith, W., Harding, C., Le Mons, C., Coakley, D.F., Lee, B., Scharschmidt, B.F.

Get full text

Glutamine and hyperammonemic crises in patients with urea cycle disorders by Lee, B., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S.A., Le Mons, C., Bartley, J., Longo, N., Nagamani, S.C., Berquist, W., Gallagher, R.C., Harding, C.O., McCandless, S.E., Smith, W., Schulze, A., Marino, M., Rowell, R., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F.

Get full text

Population Pharmacokinetic Modeling and Dosing Simulations of Nitrogen-Scavenging Compounds: Disposition of Glycerol Phenylbutyrate and Sodium Phenylbutyrate in Adult and Pediatric... by Monteleone, Jon P. R., Mokhtarani, M., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Berry, S. A., LeMons, C., Dickinson, K., Coakley, D., Lee, B., Scharschmidt, B. F.

Get full text

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

Get full text

Antibiotic prophylaxis in preterm premature rupture of membranes at 24–31 weeks’ gestation: Perinatal and 2‐year outcomes in the EPIPAGE‐2 cohort by Lorthe, Elsa, Letouzey, Mathilde, Torchin, Héloïse, Foix L'Helias, Laurence, Gras‐Le Guen, Christèle, Benhammou, Valérie, Charlier, Caroline, Kayem, Gilles, Ancel, Pierre‐Yves, Arnaud, Catherine, Blanc, Julie, Debillon, Thierry, Desplanches, Thomas, Diguisto, Caroline, Gascoin, Géraldine, Gire, Catherine, Langer, Bruno, Maisonneuve, Emeline, Monier, Isabelle, Morgan, Andrei, Rozé, Jean‐Christophe, Schmitz, Thomas, Tosello, Barthélémy, Vayssière, Christophe, Zeitlin, Jennifer, Astruc, D, Kuhn, P, Matis, J, Ramousset, C, Hernandorena, X, Joly‐Pedespan, L, Costedoat, MJ, Leguen, A, Vendittelli, F, Dreyfus, M, Guillois, B, Burguet, A, Couvreur, S, Sagot, P, Sizun, J, Beuchée, A, Pladys, P, Dupuy, RP, Charlot, F, Roudaut, S, Favreau, A, Reboul, L, Morville, P, Thiriez, G, Balamou, C, Barbier, C, Durrmeyer, X, Granier, M, Baud, O, Mitanchez, D, Cornu, L, Daudé, H, Badessi, A, Tsaoussis, N, Mons, F, Binet, MH, Hascoët, JM, Milton, A, Hilpert, L, Alberge, C, Baron, M, Charkaluk, ML, Truffert, P, Akowanou, S, Bongain, A, Branger, B, Rouger, V, Dupont, C, Gondry, J, Baby, B, Debeir, M, Claris, O, Rubio‐Gurung, S, Cans, C, Patural, H, Rannaud, A, Rosenthal, JM, Coliné, E, Favre, A, Châlons, S, Pignol, J, Laurence, PL, Robillard, PY, Samperiz, S, Ramful, D, Blondel, B, Bonet, M, Brinis, A, Coquelin, A, Durox, M, Kaminski, M, Khemache, K, Marchand‐Martin, L, Saurel‐Cubizolles, MJ, Tran, D

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

Hospital cost of Clostridium difficile infection including the contribution of recurrences in French acute-care hospitals by Le Monnier, A, Duburcq, A, Zahar, J.-R, Corvec, S, Guillard, T, Cattoir, V, Woerther, P.-L, Fihman, V, Lalande, V, Jacquier, H, Mizrahi, A, Farfour, E, Morand, P, Marcadé, G, Coulomb, S, Torreton, E, Fagnani, F, Barbut, F

Get full text

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

Get full text

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

Get full text

Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent by Le Gac, G., Mons, F., Jacolot, S., Scotet, V., Férec, C., Frébourg, T.

Get full text

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

Get full text

Nationwide survey on training and device utilization during tracheal intubation in French intensive care units by Martin, M., Decamps, P., Seguin, A., Garret, C., Crosby, L., Zambon, O., Miailhe, A. F., Canet, E., Reignier, J., Lascarrou, J. B.

Get full text

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.

Get full text

P2.01-038 Determinants of Frailty and Treatment Toxicity in Non-Small Cell Lung Cancer Patient by Boucher, M., Mezquita, L., Auclin, E., Mons, M., Marghadi, J., Charrier, M., Ferrara, R., Planchard, D., Anas, G., Le Pechoux, C., Botticella, A., Caramella, C., Adam, J., Soria, J., Besse, B.

Get full text

Serum levels of macrophage-colony stimulating factor (M-CSF): a marker of kidney allograft rejection by Le Meur, Yannick, Leprivey-Lorgeot, Valérie, Mons, Sandrine, José, Mattew, Dantal, Jacques, Lemauff, Brigitte, Aldigier, Jean-Claude, Leroux-Robert, Claude, Praloran, Vincent

Get full text

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

Get full text

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials by Nagamani, Sandesh C S, Diaz, George A, Rhead, William, Berry, Susan A, Le Mons, Cynthia, Lichter-Konecki, Uta, Bartley, James, Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Vockley, Jerry, Kronn, David, Zori, Robert, Cederbaum, Stephen, Merritt, 2nd, J Lawrence, Wong, Derek, Coakley, Dion F, Scharschmidt, Bruce F, Dickinson, Klara, Marino, Miguel, Lee, Brendan H, Mokhtarani, Masoud

Get full text