Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

by García-López, Roberto, de la Morena-Barrio, María Eugenia, Alsina, Laia, Pérez-Dueñas, Belén, Jaeken, Jaak, Serrano, Mercedes, Casado, Mercedes, Hernández-Caselles, Trinidad
Published 2016

Thiamine transporter-2 deficiency: outcome and treatment monitoring

by Ortigoza-Escobar, Juan Darío, Serrano, Mercedes, Molero, Marta, Oyarzabal, Alfonso, Rebollo, Mónica, Muchart, Jordi, Artuch, Rafael, Rodríguez-Pombo, Pilar, Pérez-Dueñas, Belén
Published 2014

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

by Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith
Published 2016

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

by García-López, Roberto, de la Morena-Barrio, María Eugenia, Alsina, Laia, Pérez-Dueñas, Belén, Jaeken, Jaak, Serrano, Mercedes, Casado, Mercedes, Hernández-Caselles, Trinidad
Published 2016

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

by de la Morena-Barrio, Maria E, Hernández-Caselles, Trinidad, Corral, Javier, García-López, Roberto, Martínez-Martínez, Irene, Pérez-Dueñas, Belen, Altisent, Carmen, Sevivas, Teresa, Kristensen, Soren R, Guillén-Navarro, Encarna, Miñano, Antonia, Vicente, Vicente, Jaeken, Jaak, Lozano, Maria L
Published 2013

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

by Serrano, Mercedes, de Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Velázquez, Ramón, Poo, M. Pilar, Fons, Carmen, O’Callaghan, M. Mar, García-Cazorla, Angels, Boix, Cristina, Robles, Bernabé, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura, Artuch, Rafael, Pérez-Cerdá, Celia, Jaeken, Jaak, Pérez, Belén, Pérez-Dueñas, Belén
Published 2015

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

by Montero, Raquel, Yubero, Delia, Villarroya, Joan, Henares, Desiree, Jou, Cristina, Rodríguez, Maria Angeles, Ramos, Federico, Nascimento, Andrés, Ortez, Carlos Ignacio, Campistol, Jaume, Perez-Dueñas, Belen, O'Callaghan, Mar, Pineda, Mercedes, Garcia-Cazorla, Angeles, Oferil, Jaume Colomer, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia, Meznaric, Marija, Campderros, Laura, Kalko, Susana G., Villarroya, Francesc, Artuch, Rafael, Jimenez-Mallebrera, Cecilia
Published 2016

Phenotypic insights into ADCY5‐associated disease

by Chang, Florence C.F., Westenberger, Ana, Dale, Russell C., Smith, Martin, Pall, Hardev S., Perez‐Dueñas, Belen, Grattan‐Smith, Padraic, Ouvrier, Robert A., Mahant, Neil, Hanna, Bernadette C., Hunter, Matthew, Lawson, John A., Max, Christoph, Sachdev, Rani, Meyer, Esther, Crimmins, Dennis, Pryor, Donald, Morris, John G.L., Münchau, Alex, Grozeva, Detelina, Carss, Keren J., Raymond, Lucy, Kurian, Manju A., Klein, Christine, Fung, Victor S.C.
Published 2016

Delineation of the movement disorders associated with FOXG1 mutations

by Papandreou, Apostolos, Schneider, Ruth B., Augustine, Erika F., Ng, Joanne, Mankad, Kshitij, Meyer, Esther, McTague, Amy, Ngoh, Adeline, Hemingway, Cheryl, Robinson, Robert, Varadkar, Sophia M., Kinali, Maria, Salpietro, Vincenzo, O'Driscoll, Margaret C., Basheer, S. Nigel, Webster, Richard I., Mohammad, Shekeeb S., Pula, Shpresa, McGowan, Marian, Trump, Natalie, Jenkins, Lucy, Elmslie, Frances, Scott, Richard H., Hurst, Jane A., Perez-Duenas, Belen, Paciorkowski, Alexander R., Kurian, Manju A.
Published 2016