Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease

por Bar-Yoseph, Ronen, Tal, Galit, Dumin, Elena, Hanna, Moneera, Mainzer, Gur, Zucker-Toledano, Merav, Shallufi, George, Jahshan, Mira, Mandel, Hanna, Bentur, Lea
Publicado 2021

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

por Hershkovitz, Tova, Kurolap, Alina, Tal, Galit, Paperna, Tamar, Mory, Adi, Staples, Jeffrey, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Dumin, Elena, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit
Publicado 2020

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

por Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.
Publicado 2021

Hereditary orotic aciduria identified by newborn screening

por Staretz-Chacham, Orna, Damseh, Nadirah S., Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora C., Hershkovitz, Eli, Josefsberg, Sagi, Landau, Yuval, Lerman-Sagie, Tally, Mandel, Hanna, Rock, Rachel, Rostami, Nira, Saraf-Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Ulanovsky, Igor, Wilnai, Yael, Korman, Stanley H., Almashanu, Shlomo
Publicado 2023

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

por Falik‐Zaccai, Tzipora C, Barsheshet, Yiftah, Mandel, Hanna, Segev, Meital, Lorber, Avraham, Gelberg, Shachaf, Kalfon, Limor, Ben Haroush, Shani, Shalata, Adel, Gelernter‐Yaniv, Liat, Chaim, Sarah, Raviv Shay, Dorith, Khayat, Morad, Werbner, Michal, Levi, Inbar, Shoval, Yishay, Tal, Galit, Shalev, Stavit, Reuveni, Eli, Avitan‐Hersh, Emily, Vlodavsky, Eugene, Appl‐Sarid, Liat, Goldsher, Dorit, Bergman, Reuven, Segal, Zvi, Bitterman‐Deutsch, Ora, Avni, Orly
Publicado 2017

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

por Falik‐Zaccai, Tzipora C, Barsheshet, Yiftah, Mandel, Hanna, Segev, Meital, Lorber, Avraham, Gelberg, Shachaf, Kalfon, Limor, Ben Haroush, Shani, Shalata, Adel, Gelernter‐Yaniv, Liat, Chaim, Sarah, Raviv Shay, Dorith, Khayat, Morad, Werbner, Michal, Levi, Inbar, Shoval, Yishay, Tal, Galit, Shalev, Stavit, Reuveni, Eli, Avitan‐Hersh, Emily, Vlodavsky, Eugene, Appl‐Sarid, Liat, Goldsher, Dorit, Bergman, Reuven, Segal, Zvi, Bitterman‐Deutsch, Ora, Avni, Orly
Publicado 2017

Autoantibodies against type I IFNs in patients with critical influenza pneumonia

por Zhang, Qian, Pizzorno, Andrés, Miorin, Lisa, Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Bizien, Lucy, Manry, Jeremy, Rosain, Jérémie, Philippot, Quentin, Goavec, Kelian, Padey, Blandine, Cupic, Anastasija, Laurent, Emilie, Saker, Kahina, Vanker, Martti, Särekannu, Karita, García-Salum, Tamara, Ferres, Marcela, Le Corre, Nicole, Sánchez-Céspedes, Javier, Balsera-Manzanero, María, Carratala, Jordi, Retamar-Gentil, Pilar, Abelenda-Alonso, Gabriela, Valiente, Adoración, Tiberghien, Pierre, Zins, Marie, Debette, Stéphanie, Meyts, Isabelle, Haerynck, Filomeen, Castagnoli, Riccardo, Notarangelo, Luigi D., Gonzalez-Granado, Luis I., Dominguez-Pinilla, Nerea, Andreakos, Evangelos, Triantafyllia, Vasiliki, Rodríguez-Gallego, Carlos, Solé-Violán, Jordi, Ruiz-Hernandez, José Juan, Rodríguez de Castro, Felipe, Ferreres, José, Briones, Marisa, Wauters, Joost, Vanderbeke, Lore, Feys, Simon, Kuo, Chen-Yen, Lei, Wei-Te, Ku, Cheng-Lung, Tal, Galit, Etzioni, Amos, Hanna, Suhair, Fournet, Thomas, Casalegno, Jean-Sebastien, Queromes, Gregory, Argaud, Laurent, Javouhey, Etienne, Rosa-Calatrava, Manuel, Cordero, Elisa, Aydillo, Teresa, Medina, Rafael A., Kisand, Kai, Puel, Anne, Jouanguy, Emmanuelle, Abel, Laurent, Cobat, Aurélie, Trouillet-Assant, Sophie, García-Sastre, Adolfo, Casanova, Jean-Laurent
Publicado 2022