Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

por González-Gutiérrez-Solana, Luis, Guillén-Navarro, Encarnación, del Toro, Mireia, Dalmau, Jaime, González-Meneses, Antonio, Couce, María L.
Publicado 2018

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

por Pintos-Morell, Guillem, Blasco-Alonso, Javier, Couce, María L., Gutiérrez-Solana, Luís G., Guillén-Navarro, Encarna, O'Callaghan, Mar, del Toro, Mireia
Publicado 2018

Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases

por Ruiz Herrero, Jana, Cañedo Villarroya, Elvira, González Gutiérrez-Solana, Luis, García Alcolea, Beatriz, Gómez Fernández, Begoña, Puerta Macfarland, Laura Andrea, Pedrón-Giner, Consuelo
Publicado 2021

A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project – a 2-year follow-up study

por 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
Publicado 2017

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

por Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Borges, Filipa, Gutiérrez-Solana, Luis, Wintjes, Liesbeth, Kappen, Antonia, van den Heuvel, Lambert, Leis, Rosaura, Rodenburg, Richard, Couce, María Luz
Publicado 2019

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

por Muenzer, Joseph, Burton, Barbara K., Amartino, Hernan M., Harmatz, Paul R., Gutiérrez-Solana, Luis González, Ruiz-Garcia, Matilde, Wu, Yuna, Merberg, David, Alexanderian, David, Jones, Simon A.
Publicado 2023

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

por 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
Publicado 2017

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

por 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, del Castillo, Francisco J.
Publicado 2019

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

por Launay, Nathalie, Ruiz, Montserrat, Planas-Serra, Laura, Verdura, Edgard, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Goicoechea, Leire, Guilera, Cristina, Casas, Josefina, Campelo, Felix, Jouanguy, Emmanuelle, Casanova, Jean-Laurent, Boespflug-Tanguy, Odile, Vazquez Cancela, Maria, Gutiérrez-Solana, Luis González, Casasnovas, Carlos, Area-Gomez, Estela, Pujol, Aurora
Publicado 2023

Vanishing White Matter Disease in a Spanish Population

por Turón-Viñas, Eulàlia, Pineda, Mercè, Cusí, Victòria, López-Laso, Eduardo, del Pozo, Rebeca Losada, Gutiérrez-Solana, Luis González, Moreno, David Conejo, Sierra-Córcoles, Concha, Olabarrieta-Hoyos, Naiara, Madruga-Garrido, Marcos, Aguirre-Rodríguez, Javier, González-Álvarez, Verónica, O’Callaghan, Mar, Muchart, Jordi, Armstrong-Moron, Judith
Publicado 2014

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

por Batllori, Marta, Molero-Luis, Marta, Arrabal, Luisa, Heras, Javier de las, Fernandez-Ramos, Joaquín-Alejandro, Gutiérrez-Solana, Luis González, Ibáñez-Micó, Salvador, Domingo, Rosario, Campistol, Jaume, Ormazabal, Aida, Sedel, Frederic, Opladen, Thomas, Zouvelou, Basiliki, Pons, Roser, Garcia-Cazorla, Angels, Lopez-Laso, Eduardo, Artuch, Rafael
Publicado 2017

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

por Sánchez‐Lijarcio, Obdulia, Yubero, Delia, Leal, Fátima, Couce, María L., González Gutiérrez‐Solana, Luis, López‐Laso, Eduardo, García‐Cazorla, Àngels, Pías‐Peleteiro, Leticia, de Azua Brea, Begoña, Ibáñez‐Micó, Salvador, Mateo‐Martínez, Gonzalo, Troncoso‐Schifferli, Monica, Witting‐Enriquez, Scarlet, Ugarte, Magdalena, Artuch, Rafael, Pérez, Belén
Publicado 2022

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

por 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
Publicado 2018

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

por Mirchi, Amytice, Guay, Simon-Pierre, Tran, Luan T, Wolf, Nicole I, Vanderver, Adeline, Brais, Bernard, Sylvain, Michel, Pohl, Daniela, Rossignol, Elsa, Saito, Michael, Moutton, Sebastien, González-Gutiérrez-Solana, Luis, Thiffault, Isabelle, Kruer, Michael C, Moron, Dolores Gonzales, Kauffman, Marcelo, Goizet, Cyril, Sztriha, László, Glamuzina, Emma, Melançon, Serge B, Naidu, Sakkubai, Retrouvey, Jean-Marc, Lacombe, Suzanne, Bernardino-Cuesta, Beatriz, De Bie, Isabelle, Bernard, Geneviève
Publicado 2023

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

por Fernández-Marmiesse, Ana, Roca, Iria, Díaz-Flores, Felícitas, Cantarín, Verónica, Pérez-Poyato, Mª Socorro, Fontalba, Ana, Laranjeira, Francisco, Quintans, Sofia, Moldovan, Oana, Felgueroso, Blanca, Rodríguez-Pedreira, Montserrat, Simón, Rogelio, Camacho, Ana, Quijada, Pilar, Ibanez-Mico, Salvador, Domingno, Mª Rosario, Benito, Carmen, Calvo, Rocío, Pérez-Cejas, Antonia, Carrasco, Mª Llanos, Ramos, Feliciano, Couce, Mª Luz, Ruiz-Falcó, Mª Luz, Gutierrez-Solana, Luis, Martínez-Atienza, Margarita
Publicado 2019

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

por Schlüter, Agatha, Vélez-Santamaría, Valentina, Verdura, Edgard, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martínez, Juan José, Homedes-Pedret, Christian, Albertí-Aguiló, M. Antonia, Zulaika, Miren, Martí, Itxaso, Troncoso, Mónica, Tomás-Vila, Miguel, Bullich, Gemma, García-Pérez, M. Asunción, Sobrido-Gómez, María-Jesús, López-Laso, Eduardo, Fons, Carme, Del Toro, Mireia, Macaya, Alfons, Beltran, Sergi, Gutiérrez-Solana, Luis G., Pérez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo López, Casasnovas, Carlos, Pujol, Aurora
Publicado 2023

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

por Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O’Leary, Melanie, O’Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora
Publicado 2021

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

por 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
Publicado 2022