M191: Essential step in the detection of creatine deficiency syndromes: Reference values for creatine and guanidinoacetate von Badal Cogul, M.B., Robles Bauzá, J., Miquel Bauçà, J., Lasheras Vicens, B., Guerrero Márquez, R., Pardo Riera, A., Pérez Esteban, G.

Volltext

New insights in isobutyryl glycinuria von Amado, L. Valiña, De Yruegas, L. Molina, Rosselló, J.M. Bauçà, Esteban, G. Pérez, Bauzá, J. Robles

Volltext

Unusual finding in neonatal screening test: Hidroxiprolinemia benign von Amado, L. Valiña, Alaejos, A. Rubio, Esteban, G. Pérez, Bauzá, J. Robles

Volltext

Evaluation of a rapid assay as a “second tier-like test” for measuring TSH in newborns von Alaejos, A. Rubio, Esteban, G. Pérez, Saiz, A., Carrasco, C., Delgado, J.A., Bauça, J.M., Bauzá, J. Robles

Volltext

Novel mutation found in creatine transporter gene (SLC6A8) in a patient with intellectual disability von Alaejos, A. Rubio, Esteban, G. Pérez, Amado, L. Valiña, Vizoso, M.A. Ballesteros, Castillo, P. Argente Del, Bauça, J.M., Bauzá, J. Robles

Volltext

M123 Minimum consensus specifications for vitamin B12: From theory to practice von Ballesteros Vizoso, M., Argente Del Castillo Rodríguez, P., García García, B., Delgado Rodríguez, J., Badal Cogul, B., Bauça, J.M., Pastor García, M., Barceló Bennassar, A., Perez Esteban, G.

Volltext

Evaluation of a diagnostic protocol of thyroid dysfunction von Riesco Prieto, M, Barceló Bennassar, A, Pérez Esteban, G, Ribes Vallés, J L

Volltext

Descripció i consens dels criteris de complexitat assistencial i nivells d’intervenció en l’atenció al final de la vida von Aranzana Martínez, Antonio, Besora-Torradeflot, Imma, Bullich-Marín, Íngrid, Busquet Duran, Xavier, Castells Trilla, Gisela, Grau Farrús, Immaculada Concepció, Picaza Vila, Josep M, Tuca Rodríguez, Albert, Valverde Vilabella, Esther

Volltext bestellen

Early High-Titer Plasma Therapy to Prevent Severe Covid-19 in Older Adults von Libster, Romina, Pérez Marc, Gonzalo, Wappner, Diego, Coviello, Silvina, Bianchi, Alejandra, Braem, Virginia, Esteban, Ignacio, Caballero, Mauricio T, Wood, Cristian, Berrueta, Mabel, Rondan, Aníbal, Lescano, Gabriela, Cruz, Pablo, Ritou, Yvonne, Fernández Viña, Valeria, Álvarez Paggi, Damián, Esperante, Sebastián, Ferreti, Adrián, Ofman, Gastón, Ciganda, Álvaro, Rodriguez, Rocío, Lantos, Jorge, Valentini, Ricardo, Itcovici, Nicolás, Hintze, Alejandra, Oyarvide, M. Laura, Etchegaray, Candela, Neira, Alejandra, Name, Ivonne, Alfonso, Julieta, López Castelo, Rocío, Caruso, Gisela, Rapelius, Sofía, Alvez, Fernando, Etchenique, Federico, Dimase, Federico, Alvarez, Darío, Aranda, Sofía S, Sánchez Yanotti, Clara, De Luca, Julián, Jares Baglivo, Sofía, Laudanno, Sofía, Nowogrodzki, Florencia, Larrea, Ramiro, Silveyra, María, Leberzstein, Gabriel, Debonis, Alejandra, Molinos, Juan, González, Miguel, Perez, Eduardo, Kreplak, Nicolás, Pastor Argüello, Susana, Gibbons, Luz, Althabe, Fernando, Bergel, Eduardo, Polack, Fernando P

Volltext

Brain fog of post-COVID-19 condition and Chronic Fatigue Syndrome, same medical disorder? von Azcue, N, Gómez-Esteban, J C, Acera, M, Tijero, B, Fernandez, T, Ayo-Mentxakatorre, N, Pérez-Concha, T, Murueta-Goyena, A, Lafuente, J V, Prada, Á, López de Munain, A, Ruiz-Irastorza, G, Ribacoba, L, Gabilondo, I, Del Pino, R

Volltext

Kinetic assessment of antibiotic resistant bacteria inactivation by solar photo-Fenton in batch and continuous flow mode for wastewater reuse von De la Obra Jiménez, I., López, J.L. Casas, Ibáñez, G. Rivas, García, B. Esteban, Pérez, J.A. Sánchez

Volltext

Dysautonomia and small fiber neuropathy in post-COVID condition and Chronic Fatigue Syndrome von Azcue, N, Del Pino, R, Acera, M, Fernández-Valle, T, Ayo-Mentxakatorre, N, Pérez-Concha, T, Murueta-Goyena, A, Lafuente, J V, Prada, A, López de Munain, A, Ruiz Irastorza, G, Martín-Iglesias, D, Ribacoba, L, Gabilondo, I, Gómez-Esteban, J C, Tijero-Merino, B

Volltext

Continuous flow disinfection of WWTP secondary effluents by solar photo-Fenton at neutral pH in raceway pond reactors at pilot plant scale von De la Obra Jiménez, I., Esteban García, B., Rivas Ibáñez, G., Casas López, J.L., Sánchez Pérez, J.A.

Volltext

Empagliflozin in Heart Failure with a Preserved Ejection Fraction von Anker, Stefan D, Butler, Javed, Filippatos, Gerasimos, Ferreira, João P, Bocchi, Edimar, Böhm, Michael, Brunner–La Rocca, Hans-Peter, Choi, Dong-Ju, Chopra, Vijay, Chuquiure-Valenzuela, Eduardo, Giannetti, Nadia, Gomez-Mesa, Juan Esteban, Janssens, Stefan, Januzzi, James L, Gonzalez-Juanatey, Jose R, Merkely, Bela, Nicholls, Stephen J, Perrone, Sergio V, Piña, Ileana L, Ponikowski, Piotr, Senni, Michele, Sim, David, Spinar, Jindrich, Squire, Iain, Taddei, Stefano, Tsutsui, Hiroyuki, Verma, Subodh, Vinereanu, Dragos, Zhang, Jian, Carson, Peter, Lam, Carolyn Su Ping, Marx, Nikolaus, Zeller, Cordula, Sattar, Naveed, Jamal, Waheed, Schnaidt, Sven, Schnee, Janet M, Brueckmann, Martina, Pocock, Stuart J, Zannad, Faiez, Packer, Milton

Volltext

Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants von Valenzuela‐Palomo, Alberto, Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Lorca, Víctor, Fraile‐Bethencourt, Eugenia, Esteban‐Sánchez, Ada, Gómez‐Barrero, Susana, Carvalho, Sara, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Dorling, Leila, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, Hoya, Miguel, Velasco, Eladio A

Volltext

A Randomized Trial of Convalescent Plasma in Covid-19 Severe Pneumonia von Simonovich, Ventura A, Burgos Pratx, Leandro D, Scibona, Paula, Beruto, María V, Vallone, Marcelo G, Vázquez, Carolina, Savoy, Nadia, Giunta, Diego H, Pérez, Lucía G, Sánchez, Marisa del L, Gamarnik, Andrea Vanesa, Ojeda, Diego S, Santoro, Diego M, Camino, Pablo J, Antelo, Sebastian, Rainero, Karina, Vidiella, Gabriela P, Miyazaki, Erica A, Cornistein, Wanda, Trabadelo, Omar A, Ross, Fernando M, Spotti, Mariano, Funtowicz, Gabriel, Scordo, Walter E, Losso, Marcelo H, Ferniot, Inés, Pardo, Pablo E, Rodriguez, Eulalia, Rucci, Pablo, Pasquali, Julieta, Fuentes, Nora A, Esperatti, Mariano, Speroni, Gerardo A, Nannini, Esteban C, Matteaccio, Alejandra, Michelangelo, Hernán G, Follmann, Dean, Lane, H. Clifford, Belloso, Waldo H

Volltext

Wild bacteria inactivation in WWTP secondary effluents by solar photo-fenton at neutral pH in raceway pond reactors von Esteban García, B., Rivas, G., Arzate, S., Sánchez Pérez, J.A.

Volltext

Yebes 40 m radio telescope and the broad band NANOCOSMOS receivers at 7 mm and 3 mm for line surveys von Tercero, F, López-Pérez, J A, Gallego, J D, Beltrán, F, García, O, Patino-Esteban, M, López-Fernández, I, Gómez-Molina, G, Diez, M, García-Carreño, P, Malo, I, Amils, R, Serna, J M, Albo, C, Hernández, J M, Vaquero, B, González-García, J, Barbas, L, López-Fernández, J A, Bujarrabal, V, Gómez-Garrido, M, Pardo, J R, Santander-García, M, Tercero, B, Cernicharo, J, de Vicente, P

Volltext

Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants von Bueno‐Martínez, Elena, Sanoguera‐Miralles, Lara, Valenzuela‐Palomo, Alberto, Esteban‐Sánchez, Ada, Lorca, Víctor, Llinares‐Burguet, Inés, Allen, Jamie, García‐Álvarez, Alicia, Pérez‐Segura, Pedro, Durán, Mercedes, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike PG, Hoya, Miguel, Velasco‐Sampedro, Eladio A

Volltext

Inappropriate doses of direct oral anticoagulants in real-world clinical practice: prevalence and associated factors. A subanalysis of the FANTASIIA Registry von Ruiz Ortiz, Martín, Muñiz, Javier, Raña Míguez, Paula, Roldán, Inmaculada, Marín, Francisco, Asunción Esteve-Pastor, María, Cequier, Angel, Martínez-Sellés, Manuel, Bertomeu, Vicente, Anguita, Manuel

Volltext