Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

by Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, Gassen, Koen L. I., Heuvel, L. Bert, De Meirleir, Linda
Published in JIMD reports

Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC d...

by Scalais, Emmanuel, Geron, Christine, Pierron, Charlotte, Cardillo, Sandra, Schlesser, Vincent, Mataigne, Frédéric, Borde, Patricia, Regal, Luc
Published in Molecular genetics and metabolism

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

by Dangouloff, Tamara, Vrščaj, Eva, Servais, Laurent, Osredkar, Damjan, Adoukonou, Thierry, Aryani, Omid, Barisic, Nina, Bashiri, Fahad, Bastaki, Laila, Benitto, Afaf, Omran, Tawfeg Ben, Bernert, Guenther, Bertini, Enrico, Borde, Patricia, Born, Peter, Boustani, Rose-Mary, Butoianu, Nina, Castiglioni, Claudia, Catibusic, Feriha, Chan, Sophelia, Chien, Yin Hsiu, Christodoulou, Kyproula, Dejsuphong, Donniphat, Farrar, Michelle, Filip, Duma, Goemans, Nathalie, Guinhouya, Kokou, Haberlova, Jana, Hadzsiev, Kinga, Hovhannesyan, Kristine, Isohanni, Pirjo, Radovic, Nelica Ivanovic, Jacquier, David, Jalloh, Alusine, Jedrzejowska, Maria, Kandawasvika, Gwen, Kaputu, Celestin, Kawatu, Nfwama, Kernohan, Kristin, Kirschner, Jan, Klink, Barbara, Kodsy, Sherry, Kouame-Assouan, Ange-Eric, Kravljanac, Ruzica, Kreile, Madara, Litvinenko, Ivan, McMillan, Hugh, Mesa, Sandra, Mohamed, Inaam, Kanzoska, Liljana Muaremoska, Nevo, Yoram, Nguefack, Seraphin, Nkole, Kafula, O'Grady, Gina, O'Rourke, Declan, Oskoui, Maryam, Piazzon, Flavia, Poddighe, Dimitri, Prasauskiene, Audrone, Prieto, Juan, Rasmussen, Magnhild, Razafindrasata, Santara, Saha, Narayan, Saito, Kayoko, Sakadi, Foksouna, Sangare, Modibo, Schroth, Mary, Shalkevich, Leanid, Shatillo, Andriy, Suthar, Renu, Szabo, Lena, Tatishvili, Nana, Tazir, Meriem, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Mar, van der Pol, Ludo, Vazquez, Gabriel, Vlodavets, Dimitry, Wanigasinghe, Jithangi, Wilmshurst, Jo, Xiong, Hui, Zafeiriou, Dimitrios, Zamba, Eleni
Published in Neuromuscular disorders : NMD

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

by Loeber, J Gerard, Platis, Dimitris, Zetterström, Rolf H, Almashanu, Shlomo, Boemer, François, Bonham, James R, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O'Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D, Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C J I
Published in International journal of neonatal screening

Biomarkers for Early Diagnosis of Hemophagocytic Lymphohistiocytosis in Critically Ill Patients

by Debaugnies, France, Mahadeb, Bhavna, Nagant, Carole, Meuleman, Nathalie, De Bels, David, Wolff, Fleur, Gottignies, Philippe, Salaroli, Adriano, Borde, Patricia, Voué, Michel, Corazza, Francis
Published in Journal of clinical immunology

Global impact of COVID-19 on newborn screening programmes

by Koracin, Vanesa, Loeber, J Gerard, Mlinaric, Matej, Battelino, Tadej, Bonham, James R, Groselj, Urh
Published in BMJ global health

Regulation of transcription of the glutathione S-transferase P1 gene by methylation of the minimal promoter in human leukemia cells

by Borde-Chiché, Patricia, Diedericha, Marc, Morceau, Franck, Puga, Alvaro, Wellman, Maria, Dicato, Mario
Published in Biochemical pharmacology

Phorbol ester responsiveness of the glutathione S-transferase P1 gene promoter involves an inducible c-jun binding in human K562 leukemia cells

by Borde-Chiché, Patricia, Diederich, Marc, Morceau, Franck, Wellman, Maria, Dicato, Mario
Published in Leukemia research

Expression of glutathione S-transferase P1-1 in leukemic cells is regulated by inducible AP-1 binding

by Duvoix, Annelyse, Schnekenburger, Michaël, Delhalle, Sylvie, Blasius, Romain, Borde-Chiché, Patricia, Morceau, Franck, Dicato, Mario, Diederich, Marc
Published in Cancer letters

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

by Aittomäki, Kristiina, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Azzollini, Jacopo, Barnes, Daniel R, Beckmann, Matthias W, Bermisheva, Marina, Białkowska, Katarzyna, Blomqvist, Carl, Bolla, Manjeet K, Borg, Ake, Campbell, Ian, Carter, Jonathan, Chang-Claude, Jenny, Chanock, Stephen J, Christiansen, Hans, Couch, Fergus J, Dennis, Joe, Diez, Orland, Dunning, Alison M, Ejlertsen, Bent, Fasching, Peter A, Fletcher, Olivia, Flyger, Henrik, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Glendon, Gord, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Guénel, Pascal, Hollestelle, Antoinette, Hoover, Robert N, Hopper, John L, Imyanitov, Evgeny N, Isaacs, Claudine, Jakimovska, Milena, Janavicius, Ramunas, Joseph, Vijai, Khusnutdinova, Elza, Ko, Yon-Dschun, Konstantopoulou, Irene, Lambrechts, Diether, Lazaro, Conxi, Leslie, Goska, Lesueur, Fabienne, Long, Jirong, Lubiński, Jan, Makalic, Enes, Mannermaa, Arto, Margolin, Sara, Maurer, Tabea, Mavroudis, Dimitrios, Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Montagna, Marco, Moserle, Lidia, Mulligan, Anna Marie, Nevanlinna, Heli, Nevelsteen, Ines, Olsson, Håkan, Osorio, Ana, Park-Simon, Tjoung-Won, Parsons, Michael T, Pedersen, Inge Sokilde, Peixoto, Ana, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Saloustros, Emmanouil, Schmutzler, Rita K, Simard, Jacques, Spurdle, Amanda B, Stone, Jennifer, Swerdlow, Anthony J, Tapper, William J, Teixeira, Manuel R, Teulé, Alex, Thomassen, Mads, Thöne, Kathrin, Tischkowitz, Marc, Toland, Amanda E, Truong, Thérèse, Tung, Nadine, Vachon, Celine M, van Rensburg, Elizabeth J, Viel, Alessandra, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Winqvist, Robert, Kraft, Peter, Milne, Roger L, Beesley, Jonathan
Published in Nature communications

A Contemporary Picture of Enterococcal Endocarditis

by Hernández-Meneses, Marta, Ojeda-Burgos, Guillermo, Noureddine, Mariam, de la Torre Lima, Javier, Boado, María Victoria, Irurzun Zuazabal, Josu, Montejo, Miguel, Rodríguez, Regino, Vitoria, Yolanda, Voces, Roberto, Rodríguez Bailón, Isabel, María Cuende, Ana, Echeverría, Tomás, Fuerte, Ana, Gaminde, Eduardo, Izaguirre Yarza, Alberto, Merino, Esperanza, Plazas, Joaquín, Álvarez, Nemesio, Bravo-Ferrer, José María, Castelo, Laura, Llinares, Pedro, Miguez Rey, Enrique, Castro, Beatriz, García Rosado, Dácil, Lacalzada, Juan, Nassar, Ibrahim, Plata Ciezar, Antonio, de la Hera, Jesús, León Arguero, Víctor, López Menéndez, José, Mencia Bajo, Pilar, Paya Martínez, Begoña, Telenti Asensio, Mauricio, Falces, Carlos, Hernández-Meneses, Marta, Moreno, Asunción, Sitges, Marta, Soy, Dolors, Tolosana, José M., Vidal, Bárbara, Bermejo, Javier, Celemín, Daniel, Cuerpo Caballero, Gregorio, Delgado Montero, Antonia, Kestler Hernández, Martha, Rincón, Cristina, Rodríguez-Abella, Hugo, Rodríguez-Créixems, Marta, Pinto, Ángel, Verde Moreno, Eduardo, Moreno, Mar, Rial Bastón, Verónica, Agüero Balbín, Jesús, Armiñanzas Castillo, Carlos, Arnaiz, Ana, Fariñas, María Carmen, Fariñas-Álvarez, Concepción, Gómez Izquierdo, Rubén, González, Jesús, Ramos, Antonio, Sánchez Romero, Isabel, Martín-Dávila, Pilar, Navas, Enrique, Oliva, Enrique, Barquero, José Miguel, de Cueto, Marina, Gálvez Acebal, Juan, López, Francisco, Alonso, Luis Javier, Azcárate, Pedro, Azcona Gutiérrez, José Manuel, Pons, Guillem, Regueiro, Benito, Vega, Marino, Cordo Mollar, José, Gainzarain Arana, Juan Carlos, García Uriarte, Oscar, Ortiz de Zárate, Zuriñe, Arribas Leal, José Ma, Aramburu, Javier, Moreno Rodríguez, Anai, Tarabini-Castellani, Paola, Maicas Bellido, Carolina, Cascales Alcolea, Eva, Martínez, Julián Navarro, Núñez Morcillo, Juana, Aured Guallar, Carmen, Palacián Ruiz, Ma Pilar, Viqueira González, Monserrat, Vidal Bonet, Laura, Bellón Munera, Ma Carmen, Badía, Cristina, Marrero Santiago, Héctor, Pisos Álamo, Elena, Chaves, Fernando, de Cossío, Santiago, López Medrano, Francisco, Solera, Javier, Grillo, Sara
Published in Journal of the American College of Cardiology

Outpatient Parenteral Antibiotic Treatment for Infective Endocarditis: A Prospective Cohort Study From the GAMES Cohort

by Pericà S, Juan M, Llopis, Jaume, González-Ramallo, Víctor, Goenaga, Miguel Á, Muñoz, Patricia, García-Leoni, M Eugenia, Fariñas, M Carmen, Pajarón, Marcos, Ambrosioni, Juan, Luque, Rafael, Goikoetxea, Josune, Oteo, José A, Carrizo, Enara, Bodro, Marta, Reguera-Iglesias, José M, Navas, Enrique, Hidalgo-Tenorio, Carmen, Miró, José M
Published in Clinical infectious diseases

Infective Endocarditis in Patients With Bicuspid Aortic Valve or Mitral Valve Prolapse

by Gonzalez Rico, Claudia, Rodriguez Alvarez, Regino, Garcia-Pavia, Pablo, Noureddine, Mariam, de la Torre Lima, Javier, Blanco, María José, Crespo, Alejandro, Goikoetxea, Josune, Iruretagoyena, José Ramón, López-Soria, Leire, Nieto, Javier, Rodríguez, Regino, Vitoria, Yolanda, Rodríguez Bailón, Isabel, Ruiz Morales, Josefa, Cuende, Ana María, Fuerte, Ana, Goenaga, Miguel Ángel, Carrasco, Rafael, Climent, Vicente, Llamas, Patricio, Bravo-Ferrer, José María, Cuenca, José, Miguez Rey, Enrique, Rodríguez Mayo, María, Martínez, Francisco Javier, Alonso, María del Mar, Lacalzada, Juan, Reguera Iglesias, José Mª, Asensi Álvarez, Víctor, Paya Martínez, Begoña, Ambrosioni, Juan, Brunet, Mercè, Cartañá, Ramón, Fita, Guillermina, Fuster, David, Marco, Francesc, Miró, José María, Nicolás, David, Paré, Carlos, Pereda, Daniel, Pomar, José Luis, Ramírez, José, Téllez, Adrián, Vila, Jordi, Adán, Iván, Bouza, Emilio, Delgado Montero, Antonia, González Ramallo, Víctor, Kestler Hernández, Martha, Marín, Mercedes, Martínez-Sellés, Manuel, Menárguez, María Cruz, Rincón, Cristina, Verde Moreno, Eduardo, Moreno, Mar, Rial Bastón, Verónica, Romero, María, Saldaña, Araceli, Agüero Balbín, Jesús, Arnaiz, Ana, García, Iván, Gutiérrez-Cuadra, Manuel, Teira, Ramón, Domínguez, Fernando, Mirelis, Jesús González, Ramos, Antonio, Hermida, José Manuel, Barquero, José Miguel, de Cueto, Marina, Gálvez Acebal, Juan, López, Francisco, Alonso, Luis Javier, Azcárate, Pedro, Azcona Gutiérrez, José Manuel, Oteo, José Antonio, Pons, Guillem, Fernández, Ángel Luis, Martínez, Amparo, Mollar, José Cordo, Martín López, Alejandro, García Domínguez, Gloria, Arribas Leal, José Mª, García Vázquez, Elisa, Blázquez, Ana, de la Morena Valenzuela, Gonzalo, Calvo, Felicitas Elena, Heredero Gálvez, Eva, Cascales Alcolea, Eva, Soriano, Víctor, Moreno Escobar, Eduardo, Arrizabalaga Asenjo, María, Núñez Morcillo, Juana, Porres, Juan Carlos, Alcaraz Vidal, Begoña, Cobos Trigueros, Nazaret, Giner Caro, José Antonio, Jimeno Almazán, Amaya, Viqueira González, Monserrat, Pericás Ramis, Pere
Published in Journal of the American College of Cardiology

Impact of Intermediate Susceptibility to Penicillin on Antimicrobial Treatment and Outcomes of Endocarditis Caused by Viridans and Gallolyticus Group Streptococci

by Escrihuela-Vidal, Francesc, Berbel, Damaris, Fernández-Hidalgo, Núria, Escolà-Vergé, Laura, Muñoz, Patricia, Olmedo, María, Goenaga, Miguel Ángel, Goikoetxea, Josune, Fariñas, María Carmen, De Alarcón, Arístides, Miró, José M, Ojeda, Guillermo, Plata, Antonio, Cuervo, Guillermo, Carratalà, Jordi
Published in Clinical infectious diseases

Prevalence of Colorectal Neoplasms Among Patients With Enterococcus faecalis Endocarditis in the GAMES Cohort (2008–2017)

by Ambrosioni, Juan, Kestler, Martha, Mari-Hualde, Amaia, Moreno, Asunción, Rodríguez-Álvarez, Regino, Ojeda-Burgos, Guillermo, Miró, José M., Noureddine, Mariam, Boado, María Victoria, Montejo, Miguel, Rodríguez, Regino, Voces, Roberto, López, Ma Victoria García, Morales, Josefa Ruiz, Echeverría, Tomás, Fuerte, Ana, Gaminde, Eduardo, Iribarren, José Antonio, Urkola, Xabier Kortajarena, Merino, Esperanza, Plazas, Joaquín, Álvarez, Nemesio, Bravo-Ferrer, José María, Castelo, Laura, Llinares, Pedro, del Mar Alonso, Ma, Castro, Beatriz, del Carmen Durán, Ma, Lacalzada, Juan, Nassar, Ibrahim, Iglesias, José Ma Reguera, Hera, Jesús de la, Fraile, Lisardo Iglesias, Torrico, Alfonso Moreno, Falces, Carlos, Hernández-Meneses, Marta, Moreno, Asunción, Soy, Dolors, Tolosana, José M., Vidal, Bárbara, Bermejo, Javier, Celemín, Daniel, Hernández, Martha Kestler, Rincón, Cristina, Rodríguez-Abella, Hugo, Rodríguez-Créixems, Marta, Bastón, Verónica Rial, Arnaiz, Ana, Belaustegui, Manuel Cobo, Fariñas, María Carmen, Fariñas-Álvarez, Concepción, Izquierdo, Rubén Gómez, Rico, Claudia González, Díez, José Gutiérrez, Pavía, Pablo García, González, Jesús, Ramos, Antonio, Martín-Dávila, Pilar, Navas, Enrique, Oliva, Enrique, Barquero, José Miguel, de Cueto, Marina, Acebal, Juan Gálvez, López, Francisco, Alonso, Luis Javier, Azcárate, Pedro, Azcona Gutiérrez, José Manuel, Villegas, Antonio Cabrera, Pons, Guillem, Regueiro, Benito, Vega, Marino, Blasco, Andrés Canut, Gainzarain Arana, Juan Carlos, Uriarte, Oscar García, López, Alejandro Martín, Ortiz de Zárate, Zuriñe, Aramburu, Javier, Rodríguez, Anai Moreno, Tarabini-Castellani, Paola, Gálvez, Eva Heredero, Bellido, Carolina Maicas, Sierra, Pilar Toledano, Alcolea, Eva Cascales, Martínez, Julián Navarro, Cabrera, Valme Sánchez, Asenjo, María Arrizabalaga, Morcillo, Juana Núñez, Adell, Marta Matamala, Ruiz, Ma Pilar Palacián, Vidal, Begoña Alcaraz, Sánchez, Roberto Jiménez, Almazán, Amaya Jimeno, Freire, Alejandro Ortín, Ramis, Pere Pericás, Munera, Ma Carmen Bellón, Badía, Cristina, Eloy Gómez Nebreda, Sónia Ibars, Herrera, Ibalia Horcajada, de Miguel Martínez, Isabel, Álamo, Elena Pisos
Published in Mayo Clinic proceedings

One-day prevalence of asymptomatic carriage of toxigenic and non-toxigenic Clostridioides difficile in 10 French hospitals

by Le Monnier, A., Candela, T., Mizrahi, A., Bille, E., Bourgeois-Nicolaos, N., Cattoir, V., Farfour, E., Grall, I., Lecointe, D., Limelette, A., Marcade, G., Poilane, I., Poupy, P., Kansau, I., Zahar, J-R., Pilmis, B., Hartmann, C., Kazhalawi, A., Lambert-Bordes, S., Bleunven, S., Bedos, J.-P., Greder-Belan, A., Rigaudea, S., Lecuyer, H., Jousset, A., Lebeaux, D., Levy, B., Rabate, C., Collignon, A., Batah, J., Francois, V., Sebbane, G., Woerther, P.-L., Loggia, G., Michon, J., Verdon, R., Samba, D., Méar, J.-B., Guillard, T., Nguyen, Y., Banisadr, F., Delmer, A., Himberlin, C., Diallo, S., Furet, I., Achouri, B., Reksa, A., Jouveshomme, S., Menage, E., Philippart, F., Hadj-Abdeslam, M., Durand-Gasselin, B., Eveillard, M., Kouatchet, A., Schmidt, A., Salanoubat, C., Heurtaux, M.-N., Cronier, P., Foufa, A.
Published in The Journal of hospital infection

First national survey of the diagnosis of Helicobacter pylori infection in Clinical Microbiology Laboratories in Spain

by Miqueleiz-Zapatero, Ana, Alba-Rubio, Claudio, Domingo-García, Diego, Cantón, Rafael, Gómez-García de la Pedrosa, Elia, Aznar-Cano, Esteban, Leiva, José, Montes, Milagrosa, Sánchez-Romero, Isabel, Rodríguez-Díaz, Juan Carlos, Alarcón-Cavero, Teresa
Published in Enfermedades infecciosas y microbiologia clinica (English ed.)