Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel von Muñoz, Gloria, García‐Seisdedos, David, Ciubotariu, Crina, Piris‐Villaespesa, Miguel, Gandía, Marta, Martín‐Moro, Fernando, Gutiérrez‐Solana, Luis G., Morado, Marta, López‐Jiménez, Javier, Sánchez‐Herranz, Antonio, Villarrubia, Jesús, Castillo, Francisco J.

Volltext

Hunter Syndrome: Resolution of Extensive Typical Skin Lesions After 9 Months of Enzyme Replacement Therapy with Idursulfase von Marín, Laura L., Gutiérrez-Solana, Luis G., Fernández, Antonio T.

Volltext

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy von Friedman, Jennifer, Roze, Emmanuel, Abdenur, Jose E., Chang, Richard, Gasperini, Serena, Saletti, Veronica, Wali, Gurusidheshwar M., Eiroa, Hernan, Neville, Brian, Felice, Alex, Parascandalo, Ray, Zafeiriou, Dimitrios I., Arrabal-Fernandez, Luisa, Dill, Patricia, Eichler, Florian S., Echenne, Bernard, Gutierrez-Solana, Luis G., Hoffmann, Georg F., Hyland, Keith, Kusmierska, Katarzyna, Tijssen, Marina A. J., Lutz, Thomas, Mazzuca, Michel, Penzien, Johann, Poll-The, Bwee Tien, Sykut-Cegielska, Jolanta, Szymanska, Krystyna, Thöny, Beat, Blau, Nenad

Volltext

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) von Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Martinez Monseny, Antonio F, Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G, Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes

Volltext

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations von Hortigüela, Montesclaros, Fernández-Marmiesse, Ana, Cantarín, Verónica, Gouveia, Sofía, García-Peñas, Juan J, Fons, Carmen, Armstrong, Judith, Barrios, Desirée, Díaz-Flores, Felícitas, Tirado, Pilar, Couce, María L, Gutiérrez-Solana, Luis G

Volltext

Synbiotic therapy decreases microbial translocation and inflammation and improves immunological status in HIV-infected patients: a double-blind randomized controlled pilot trial von González-Hernández, Luz A, Jave-Suarez, Luis F, Fafutis-Morris, Mary, Montes-Salcedo, Karina E, Valle-Gutierrez, Luis G, Campos-Loza, Ariel E, Enciso-Gómez, Luis Fermin, Andrade-Villanueva, Jaime F

Volltext

Urban Heat Island Dynamics in an Urban–Rural Domain with Variable Porosity: Numerical Methodology and Simulation von García-Chan, Néstor, Licea-Salazar, Juan A., Gutierrez-Ibarra, Luis G.

Volltext

Analysis of a series of cases with an initial diagnosis of acute disseminated encephalomyelitis over the period 2000-2010 von Rodríguez-Fernández, Cristina, López-Marín, Laura, López-Pino, Miguel Ángel, Gutiérrez-Solana, Luis G, Soto-Insuga, Víctor, Conejo-Moreno, David

Volltext

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program von Pintos-Morell, Guillem, Blasco-Alonso, Javier, Couce, María L., Gutiérrez-Solana, Luís G., Guillén-Navarro, Encarna, O'Callaghan, Mar, del Toro, Mireia

Volltext

Characteristics and evolution of patients with Alice in Wonderland syndrome von Losada-Del Pozo, Rebeca, Cantarín-Extremera, Verónica, García-Peñas, Juan J, Duat-Rodríguez, Anna, López-Marín, Laura, Gutiérrez-Solana, Luis G, Ruiz-Falcó, M Luz

Volltext

Numerical evaluation of urban-warming mitigation strategies in an urban-porous media. An application of stabilized finite elements methods von García-Chan, Néstor, Licea-Salazar, Juan A., Gutierrez-Ibarra, Luis G.

Volltext

MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature von López-Marín, Laura, Martín-Belinchón, Mónica, Gutiérrez-Solana, Luis G, Morte-Molina, Beatriz, Duat-Rodríguez, Anna, Bernal, Juan

Volltext

Survey of strategies to reduce cold-start particulate, CO, NOx, and hydrocarbon emissions from direct-injection spark-ignition engines von Wooldridge, Margaret S, Singh, Ripudaman, Gutierrez, Luis G, Clancy, Shannon

Volltext

Multiple eyes in the skies von OLLERO, Anibal, LACROIX, Simon, MALLET, Anthony, ALAMI, Rachid, CHATILA, Raja, HOMMEL, Günter, COLMENERO LECHUGA, F. J, ARRUE, Begona C, FERRUZ, Joaquin, MARTINEZ-DE DIOS, Jose Ramiro, CABALLERO, Fernando, MERINO, Luis, GANCET, Jeremi, WIKLUND, Johan, REMUSS, Volker, PEREZ, Iker Veiga, GUTIERREZ, Luis G, VIEGAS, Domingos Xavier, GONZALEZ BENITEZ, Miguel Angel

Volltext

A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project – a 2-year follow-up study von Colón, Cristóbal, Alvarez, J. Victor, Castaño, Cristina, Gutierrez-Solana, Luís G., Marquez, Ana M., O’Callaghan, María, Sánchez-Valverde, Félix, Yeste, Carmen, Couce, María-Luz

Volltext

Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population von López-Marín, Laura, Gutiérrez-Solana, Luis G., Azuara, Luis Aldamiz-Echevarria, de las Heras, Rogelio Simón, Rodríguez, Anna Duat, Extremera, Verónica Cantarín

Volltext

Plant expression systems, a budding way to confront chikungunya and Zika in developing countries? [version 1; peer review: 2 approved] von Cardona-Ospina, Jaime A, Sepúlveda-Arias, Juan C, Mancilla, L, Gutierrez-López, Luis G

Volltext

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG) von Martínez‐Monseny, Antonio F., Bolasell, Mercè, Callejón‐Póo, Laura, Cuadras, Daniel, Freniche, Verónica, Itzep, Débora C., Gassiot, Susanna, Arango, Pedro, Casas‐Alba, Didac, Morena, Eugenia, Corral, Javier, Montero, Raquel, Pérez‐Cerdá, Celia, Pérez, Belén, Artuch, Rafael, Jaeken, Jaak, Serrano, Mercedes, Velázquez‐Fragua, Ramón, García, Oscar, Gutierrez‐Solana, Luis G, Macaya, Alfons, Pérez‐Dueñas, Belén, Aguilera‐Albesa, Sergio, López, Laura, Miranda, Ma Concepción, Carratala, Francisco, Yoldi, M Eugenia, López‐Laso, Eduardo, Sierra‐Córcoles, Ma Concepción, Sebastián‐García, Irma, Aísa, Eduardo, Cancho‐Candela, Ramon, Carrasco‐Marina, M Llanos, Couce, María L., Roldán, Susana, Muchart, Jordi, Morales, Montserrat, Conde‐Lorenzo, Noemi

Volltext

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization von Schlüter, Agatha, Rodríguez-Palmero, Agustí, Verdura, Edgard, Vélez-Santamaría, Valentina, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Martínez, Juan José, Guilera, Cristina, Girós, Marisa, Artuch, Rafael, Yoldi, María Eugenia, O'Callaghan, Mar, García-Cazorla, Angels, Armstrong, Judith, Marti, Itxaso, Mondragón Rezola, Elisabet, Redin, Claire, Mandel, Jean Louis, Conejo, David, Sierra-Córcoles, Concepción, Beltrán, Sergi, Gut, Marta, Vázquez, Elida, Del Toro, Mireia, Troncoso, Mónica, Pérez-Jurado, Luis A, Gutiérrez-Solana, Luis G, López de Munain, Adolfo, Casasnovas, Carlos, Aguilera-Albesa, Sergio, Macaya, Alfons, Pujol, Aurora

Volltext

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy von Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F, López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M Llanos, Gutiérrez-Solana, Luis G, Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya, Alfons, Fernández-Fernández, José M, Serrano, Mercedes

Volltext