by Solanki, Guirish A., Sun, Peter P., Martin, Kenneth W., Hendriksz, Christian J., Lampe, Christina, Guffon, Nathalie, Hung, Annie, Sisic, Zlatko, Shediac, Renée, Harmatz, Paul R.
Published in Molecular genetics and metabolism (01.08.2016)

by Giugliani, Roberto, de Medeiros, Paula Frassinetti Vasconcelos, Imperiale, Michael, Krishnan, Ravi, Eldon, Michael, Charles, Sharon
Published in Molecular genetics and metabolism (01.02.2022)

by Ferla, Rita, Alliegro, Marialuisa, Dell’Anno, Margherita, Nusco, Edoardo, Cullen, John M., Smith, Stephanie N., Wolfsberg, Tyra G., O’Donnell, Patricia, Wang, Ping, Nguyen, Anh-Dao, Chandler, Randy J., Chen, Zelin, Burgess, Shawn M., Vite, Charles H., Haskins, Mark E., Venditti, Charles P., Auricchio, Alberto
Published in Molecular therapy. Methods & clinical development (12.03.2021)

by Swiedler, Stuart J., Beck, Michael, Bajbouj, Manal, Giugliani, Roberto, Schwartz, Ida, Harmatz, Paul, Wraith, James E., Roberts, Jane, Ketteridge, David, Hopwood, John J., Guffon, Nathalie, Sá Miranda, M. Clara, Teles, Elisa Leão, Berger, Kenneth I., Piscia-Nichols, Cheri
Published in American journal of medical genetics. Part A (15.04.2005)

by Harmatz, Paul, Giugliani, Roberto, D. Schwartz, Ida Vanessa, Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Ketteridge, David, Hopwood, John J., Plecko, Barbara, Steiner, Robert, Whitley, Chester B., Kaplan, Paige, Yu, Zi-Fan, Swiedler, Stuart J., Decker, Celeste
Published in Molecular genetics and metabolism (01.08.2008)

by Auray-Blais, Christiane, Bhérer, Patrick, Gagnon, René, Young, Sarah P., Zhang, Haoyue H., An, Yan, Clarke, Joe T.R., Millington, David S.
Published in Molecular genetics and metabolism (2011)

by Kaissi, Ali Al, Hofstaetter, Jochen, Weigel, Gerlinde, Grill, Franz, Ganger, Rudolf, Kircher, Susanne Gerit
Published in Medicine (Baltimore) (01.08.2016)

by Song, Liujiang, Hirsch, Matthew Louis, Gilger, Brian Christopher
Year of Publication 30.05.2024

by Swiedler, Stuart J., Beck, Michael, Bajbouj, Manal, Giugliani, Roberto, Schwartz, Ida, Harmatz, Paul, Wraith, James E., Roberts, Jane, Ketteridge, David, Hopwood, John J., Guffon, Nathalie, Sá Miranda, M. Clara, Teles, Elisa Leão, Berger, Kenneth I., Piscia-Nichols, Cheri
Published in American journal of medical genetics. Part A (15.04.2005)

by SONG, Liujiang, HIRSH, Matthew, GILGER, Brian
Year of Publication 29.09.2022

Published in PR Newswire (05.06.2014)

by Garcia, Paula, Phillips, Dawn, Johnson, JoAnn, Martin, Kenneth, Randolph, Linda M., Rosenfeld, Howard, Harmatz, Paul
Published in Molecular genetics and metabolism (01.05.2021)

by Villani, Guglielmo R. D., Balzano, Nicola, Di Natale, Paola
Published in Human mutation (1998)

by Sohn, Young Bae, Wang, Raymond, Ashworth, Jane, Broqua, Pierre, Tallandier, Mireille, Abitbol, Jean-Louis, Jozwiak, Erin, Pollard, Laura, Wood, Timothy C., Aslam, Tariq, Harmatz, Paul R.
Published in Molecular genetics and metabolism reports (01.03.2024)

by Lopes, Nuno, Maia, Maria L., Pereira, Cátia S., Mondragão-Rodrigues, Inês, Martins, Esmeralda, Ribeiro, Rosa, Gaspar, Ana, Aguiar, Patrício, Garcia, Paula, Cardoso, Maria Teresa, Rodrigues, Esmeralda, Leão-Teles, Elisa, Giugliani, Roberto, Coutinho, Maria F., Alves, Sandra, Macedo, M. Fátima
Published in Biomedicines (13.06.2023)

Published in PR Newswire (14.03.2003)

by Michals Matalon, K., Matalon, R.
Published in Encyclopedia of the Neurological Sciences (2014)

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 Concolino, Daniela, Deodato, Federica, Parini, Rossella
Published in Italian journal of pediatrics (16.11.2018)

by Zhang, Jia-Rong, Wang, Jen-Hung, Lin, Hong-Zin, Lee, Yuan-Chieh
Published in American journal of ophthalmology (01.04.2020)