Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?

por Topiol, Emmanuelle S, Minarich, Laurie A, Williams, Charles A, Zori, Roberto T, Kays, David W, Haller, Michael J
Publicado 2012

Usp7 protects genomic stability by regulating Bub3

por Giovinazzi, Serena, Sirleto, Pietro, Aksenova, Vasilisa, Morozov, Viacheslav M., Zori, Roberto, Reinhold, William C., Ishov, Alexander M.
Publicado 2014

A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences

por Sri Bhashyam, Sumitra, Marsh, Kevin, Quartel, Adrian, Weng, Haoling H., Gershman, Ari, Longo, Nicola, Thomas, Janet, Zori, Roberto
Publicado 2019

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria

por Zori, Roberto, Ahring, Kirsten, Burton, Barbara, Pastores, Gregory M., Rutsch, Frank, Jha, Ashok, Jurecki, Elaina, Rowell, Richard, Harding, Cary
Publicado 2019

Chromosome painting in the manatee supports Afrotheria and Paenungulata

por Kellogg, Margaret E, Burkett, Sandra, Dennis, Thomas R, Stone, Gary, Gray, Brian A, McGuire, Peter M, Zori, Roberto T, Stanyon, Roscoe
Publicado 2007

Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem

por Zeile, William L, McCune, Helen C, Musson, Donald G, O'Donnell, Brian, O'Neill, Charles A, Tsuruda, Laurie S, Zori, Roberto T, Laipis, Philip J
Publicado 2018

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study

por Longo, Nicola, Zori, Roberto, Wasserstein, Melissa P., Vockley, Jerry, Burton, Barbara K., Decker, Celeste, Li, Mingjin, Lau, Kelly, Jiang, Joy, Larimore, Kevin, Thomas, Janet A.
Publicado 2018

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

por Diaz, George A., Schulze, Andreas, McNutt, Markey C., Leão‐Teles, Elisa, Merritt, J. Lawrence, Enns, Gregory M., Batzios, Spyros, Bannick, Allison, Zori, Roberto T., Sloan, Leslie S., Potts, Susan L., Bubb, Gillian, Quinn, Anthony G.
Publicado 2021

Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria

por Qi, Yulan, Patel, Gina, Henshaw, Joshua, Gupta, Soumi, Olbertz, Joy, Larimore, Kevin, Harding, Cary O., Merilainen, Markus, Zori, Roberto, Longo, Nicola, Burton, Barbara K., Li, Mingjin, Gu, Zhonghua, Zoog, Stephen J., Weng, Haoling H., Schweighardt, Becky
Publicado 2021

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

por Longo, Nicola, Dimmock, David, Levy, Harvey, Viau, Krista, Bausell, Heather, Bilder, Deborah A., Burton, Barbara, Gross, Christel, Northrup, Hope, Rohr, Fran, Sacharow, Stephanie, Sanchez-Valle, Amarilis, Stuy, Mary, Thomas, Janet, Vockley, Jerry, Zori, Roberto, Harding, Cary O.
Publicado 2018

Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders

por Longo, Nicola, Diaz, George A., Lichter-Konecki, Uta, Schulze, Andreas, Inbar-Feigenberg, Michal, Conway, Robert L., Bannick, Allison A., McCandless, Shawn E., Zori, Roberto, Hainline, Bryan, Mew, Nicholas Ah, Canavan, Colleen, Vescio, Thomas, Kok, Teresa, Porter, Marty H., Berry, Susan A.
Publicado 2020

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

por Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna
Publicado 2020

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

por Lee, Brendan, Diaz, George A., Rhead, William, Lichter-Konecki, U., Feigenbaum, Annette, Berry, Susan A., Le Mons, C., 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, J. Lawrence, Schulze, A., Vockley, Gerard., Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, D.A., Marino, M., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F.
Publicado 2014