by Smith, Edward C., Hopkins, Sam, Case, Laura E., Xu, Ming, Walters, Crista, Dearmey, Stephanie, Han, Sang-oh, Spears, Tracy G., Chichester, Jessica A., Bossen, Edward H., Hornik, Christoph P., Cohen, Jennifer L., Bali, Deeksha, Kishnani, Priya S., Koeberl, Dwight D.
Published in Molecular therapy (05.07.2023)

by Ullman, Julie C., Dick, Ryan A., Linzner, Daniela, Minga, Todd, Tep, Samnang, Satterfield, Terrence F., Xi, Yannan, Beattie, David T., Marmon, Tonya, Neutel, Joel M., Chung, Bernard, Leeds, Janet M., Noonberg, Sarah B., Green, Eric M., Bernstein, Harold S.
Published in Clinical pharmacology and therapeutics (01.12.2024)

by Kushlaf, Hani, Díaz‐Manera, Jordi, Bratkovic, Drago, Byrne, Barry J., Claeys, Kristl G., Clemens, Paula R., Dimachkie, Mazen M., Kishnani, Priya S., Laforêt, Pascal, Roberts, Mark, Schoser, Benedikt, Toscano, Antonio, Castelli, Jeff, Holdbrook, Fred, Sitaraman Das, Sheela, Goldman, Mitchell, Mozaffar, Tahseen
Published in Muscle & nerve (01.08.2025)

by Mongini, T., Gadaleta, G., Alonge, P., Vercelli, L., Stura, I., Musumeci, O., Ravaglia, S., Ruggiero, L., Fiumara, A., Barone, R., Servidei, S., Sancricca, C., Siciliano, G., Ricci, G., Sechi, A., Tonin, P., Pegoraro, E., Filosto, M., D’Angelo, G., Comi, G., Maggi, L., Barp, A., Crescimanno, G., Toscano, A.
Published in Journal of neurology (11.07.2025)

by de Ru, Minke H, Boelens, Jaap J, Das, Anibh M, Jones, Simon A, van der Lee, Johanna H, Mahlaoui, Nizar, Mengel, Eugen, Offringa, Martin, O'Meara, Anne, Parini, Rossella, Rovelli, Attilio, Sykora, Karl-Walter, Valayannopoulos, Vassili, Vellodi, Ashok, Wynn, Robert F, Wijburg, Frits A
Published in Orphanet journal of rare diseases (10.08.2011)

by Francesco, Baratta, Daniele, Pastori, Domenico, Ferro, Giovanna, Carluccio, Giulia, Tozzi, Francesco, Angelico, Francesco, Violi, Maria, Del Ben
Published in World journal of gastroenterology : WJG (14.08.2019)

by Hendriksz, Christian J., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Solano Villarreal, Martha L., Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart, Fiona, Hughes, Derralynn A., Berger, Kenneth I., Slasor, Peter, Matousek, Robert, Jurecki, Elaina, Shaywitz, Adam J., Harmatz, Paul R.
Published in Molecular genetics and metabolism (01.09.2016)

by Moriggi, Manuela, Capitanio, Daniele, Torretta, Enrica, Barbacini, Pietro, Bragato, Cinzia, Sartori, Patrizia, Moggio, Maurizio, Maggi, Lorenzo, Mora, Marina, Gelfi, Cecilia
Published in International journal of molecular sciences (11.03.2021)

by Montagnese, Federica, Barca, E., Musumeci, O., Mondello, S., Migliorato, A., Ciranni, A., Rodolico, C., De Filippi, P., Danesino, C., Toscano, A.
Published in Journal of neurology (01.04.2015)

by Pichette, Maxime, Serri, Karim, Pagé, Maude, Di, Lu Zhao, Bichet, Daniel G., Poulin, Frédéric
Published in Journal of the American Society of Echocardiography (01.02.2017)

by Harmatz, P., Hendriksz, C.J., Lampe, C., McGill, J.J., Parini, R., Leão-Teles, E., Valayannopoulos, V., Cole, T.J., Matousek, R., Graham, S., Guffon, N., Quartel, A.
Published in Molecular genetics and metabolism (01.09.2017)

by Chen, Agnes H., Harmatz, Paul, Nestrasil, Igor, Eisengart, Julie B., King, Kelly E., Rudser, Kyle, Kaizer, Alexander M., Svatkova, Alena, Wakumoto, Amy, Le, Steven Q., Madden, Jacqueline, Young, Sarah, Zhang, Haoyue, Polgreen, Lynda E., Dickson, Patricia I.
Published in Molecular genetics and metabolism (01.02.2020)

by Masat, Elisa, Laforêt, Pascal, De Antonio, Marie, Corre, Guillaume, Perniconi, Barbara, Taouagh, Nadjib, Mariampillai, Kuberaka, Amelin, Damien, Mauhin, Wladimir, Hogrel, Jean-Yves, Caillaud, Catherine, Ronzitti, Giuseppe, Puzzo, Francesco, Kuranda, Klaudia, Colella, Pasqualina, Mallone, Roberto, Benveniste, Olivier, Mingozzi, Federico, Bassez, G., Bedat-Millet, A. L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Furby, A., Hamroun, D., Ferrer, X., Solé, G., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Lacour, A., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M. -C., Nadaj-Pakleza, A., Nathier, C., Orlikowski, D., Pellegrini, N., Petiot, P., Praline, J., Lofaso, F., Prigent, H., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F.
Published in Scientific reports (04.11.2016)

by Braunlin, E., Rosenfeld, H., Kampmann, C., Johnson, J., Beck, M., Giugliani, R., Guffon, N., Ketteridge, D., Sá Miranda, C. M., Scarpa, M., Schwartz, I. V., Leão Teles, E., Wraith, J. E., Barrios, P., Dias da Silva, E., Kurio, G., Richardson, M., Gildengorin, G., Hopwood, J. J., Imperiale, M., Schatz, A., Decker, C., Harmatz, P.
Published in Journal of inherited metabolic disease (01.03.2013)

by Kishnani, Priya S., Byrne, Barry J., Claeys, Kristl G., Díaz-Manera, Jordi, Dimachkie, Mazen M., Kushlaf, Hani, Mozaffar, Tahseen, Roberts, Mark, Schoser, Benedikt, Hummel, Noemi, Kopiec, Agnieszka, Holdbrook, Fred, Shohet, Simon, Toscano, Antonio
Published in Journal of patient-reported outcomes (13.11.2024)

by Harmatz, Paul R., Garcia, Paula, Guffon, Nathalie, Randolph, Linda M., Shediac, Renée, Braunlin, Elizabeth, Lachman, Ralph S., Decker, Celeste
Published in Journal of inherited metabolic disease (01.03.2014)

by Jones, Harrison N., Muller, Carolyn W., Lin, Min, Banugaria, Suhrad G., Case, Laura E., Li, Jennifer S., O’Grady, Gwendolyn, Heller, James H., Kishnani, Priya S.
Published in Dysphagia (01.12.2010)

by van der Haak, Natalie, Boase, Julia, Davidson, Geoffrey, Butler, Ross, Miller, Michelle, Kaambwa, Billingsley, Kritas, Stamatiki
Published in Journal of cystic fibrosis (01.09.2016)

by Kashirskaya, Nataliya Y., Kapranov, Nikolay I., Sander-Struckmeier, Suntje, Kovalev, Vladimir
Published in Journal of cystic fibrosis (01.03.2015)

by Doneda, Divair, Lopes, André L., Teixeira, Bruno C., Mittelstadt, Suzana D., Moulin, Cileide C., Schwartz, Ida V.D.
Published in Clinical nutrition (Edinburgh, Scotland) (01.08.2015)