Search Results - "Gutiérrez‐Solana, Luis González"

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1 by Sánchez‐Lijarcio, Obdulia, Yubero, Delia, Leal, Fátima, Couce, María L., González Gutiérrez‐Solana, Luis, López‐Laso, Eduardo, García‐Cazorla, Àngels, Pías‐Peleteiro, Leticia, Azua Brea, Begoña, Ibáñez‐Micó, Salvador, Mateo‐Martínez, Gonzalo, Troncoso‐Schifferli, Monica, Witting‐Enriquez, Scarlet, Ugarte, Magdalena, Artuch, Rafael, Pérez, Belén

“…Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by…”
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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 by Ruiz Herrero, Jana, Cañedo Villarroya, Elvira, González Gutiérrez-Solana, Luis, García Alcolea, Beatriz, Gómez Fernández, Begoña, Puerta Macfarland, Laura Andrea, Pedrón-Giner, Consuelo

“…Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by mutations in the SLC2A1 gene and produces seizures, neurodevelopmental impairment, and…”
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Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease by Li, Rong, Johnson, Anne B., Salomons, Gajja, Goldman, James E., Naidu, Sakkubai, Quinlan, Roy, Cree, Bruce, Ruyle, Stephanie Z., Banwell, Brenda, D'Hooghe, Marc, Siebert, Joseph R., Rolf, Cristin M., Cox, Helen, Reddy, Alyssa, Gutiérrez-Solana, Luis González, Collins, Amanda, Weller, Roy O., Messing, Albee, van der Knaap, Marjo S., Brenner, Michael

“…Alexander disease is a progressive, usually fatal neurological disorder defined by the widespread and abundant presence in astrocytes of protein aggregates…”
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Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option by Pérez, Belén, Gutiérrez‐Solana, Luis González, Verdú, Alfonso, Merinero, Begoña, Yuste‐Checa, Patricia, Ruiz‐Sala, Pedro, Calvo, Rocio, Jalan, Anil, Marín, Laura López, Campos, Oscar, Ruiz, Maria Ángeles, Miguel, Marta San, Vázquez, Maria, Castro, Margarita, Ferrer, Isaac, Navarrete, Rosa, Desviat, Lourdes Ruiz, Lapunzina, Pablo, Ugarte, Magdalena, Pérez‐Cerdá, Celia

“…Summary Purpose Pyridoxine‐dependent epilepsy seizure (PDE; OMIM 266100) is a disorder associated with severe seizures that can be controlled pharmacologically…”
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Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II by Muenzer, Joseph, Burton, Barbara K, Harmatz, Paul, Gutiérrez-Solana, Luis González, Ruiz-Garcia, Matilde, Jones, Simon A, Guffon, Nathalie, Inbar-Feigenberg, Michal, Bratkovic, Drago, Rust, Stewart, Hale, Michael, Wu, Yuna, Yee, Karen S, Whiteman, David A H, Alexanderian, David

“…Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X-linked, heterogeneous lysosomal storage disease. Approximately two-thirds of…”
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RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia by 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

“…The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause…”
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Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study by 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

“…Abstract Background Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous…”
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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene by Marti‐Sanchez, Laura, Baide‐Mairena, Heidy, Marcé‐Grau, Anna, Pons, Roser, Skouma, Anastasia, López‐Laso, Eduardo, Sigatullina, Maria, Rizzo, Cristiano, Semeraro, Michela, Martinelli, Diego, Carrozzo, Rosalba, Dionisi‐Vici, Carlo, González‐Gutiérrez‐Solana, Luis, Correa‐Vela, Marta, Ortigoza‐Escobar, Juan Dario, Sánchez‐Montañez, Ángel, Vazquez, Élida, Delgado, Ignacio, Aguilera‐Albesa, Sergio, Yoldi, María Eugenia, Ribes, Antonia, Tort, Frederic, Pollini, Luca, Galosi, Serena, Leuzzi, Vincenzo, Tolve, Manuela, Pérez‐Gay, Laura, Aldamiz‐Echevarría, Luis, Del Toro, Mireia, Arranz, Antonio, Roelens, Filip, Urreizti, Roser, Artuch, Rafael, Macaya, Alfons, Pérez‐Dueñas, Belén

“…The neurological phenotype of 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH) and short‐chain enoyl‐CoA hydratase (SCEH) defects is expanding and natural history…”
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Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients by 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

“…Melatonin is synthesized from serotonin and it is excreted as sulphatoxymelatonin in urine. We aim to evaluate urinary sulphatoxymelatonin as a biomarker of…”
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Vanishing White Matter Disease in a Spanish Population by 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

“…Vanishing white matter (VWM) leukoencephalopathy is one of the most prevalent hereditary white matter diseases. It has been associated with mutations in genes…”
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Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann–Pick type C case by la Concepción Fournier del Castillo, María de, Barrio, Silvia Cámara, Orduña, Borja Esteso, Jiménez, Izaskun Basterra, Marín, Laura López, Extremera, Verónica Cantarín, Gutiérrez-Solana, Luis González

“…Niemann–Pick type C (NP-C) disease is a neurovisceral atypical lysosomal lipid storage disorder with a poor prognosis. We present the 5-year neuropsychological…”
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Opsoclonus-myoclonus syndrome: Experience in a tertiary hospital in the last 12 years by Jiménez Legido, María, Cantarín Extremera, Verónica, Fournier Del Castillo, María de la Concepción, Melero Llorente, Javier, González Gutiérrez-Solana, Luis

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Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study by Muenzer, Joseph, Burton, Barbara K., Harmatz, Paul, Gutiérrez-Solana, Luis González, Ruiz-Garcia, Matilde, Jones, Simon A., Guffon, Nathalie, Inbar-Feigenberg, Michal, Bratkovic, Drago, Hale, Michael, Wu, Yuna, Yee, Karen S., Whiteman, David A.H., Alexanderian, David

“…Two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have cognitive impairment. This phase 2/3, randomized, controlled, open-label,…”
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Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II by Muenzer, Joseph, Burton, Barbara K., Harmatz, Paul, Gutiérrez-Solana, Luis González, Ruiz-Garcia, Matilde, Jones, Simon A., Guffon, Nathalie, Inbar-Feigenberg, Michal, Bratkovic, Drago, Hale, Michael, Wu, Yuna, Yee, Karen S., Whiteman, David A.H., Alexanderian, David

“…Enzyme replacement therapy with weekly infused intravenous (IV) idursulfase is effective in treating somatic symptoms of mucopolysaccharidosis II (MPS II;…”
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Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia by Saettini, Francesco, Guerra, Fabiola, Mauri, Mario, Salter, Claire G., Adam, Margaret P., Adams, David, Baple, Emma L., Barredo, Estibaliz, Bhatia, Sanil, Borkhardt, Arndt, Brusco, Alfredo, Bugarin, Cristina, Chinello, Clizia, Crosby, Andrew H., D’Souza, Precilla, Denti, Vanna, Fazio, Grazia, Giuliani, Silvia, Kuehn, Hye Sun, Amel, Hassan, Elmi, Asha, Lo, Bernice, Malighetti, Federica, Mandrile, Giorgia, Martín-Nalda, Andrea, Mefford, Heather C., Moratto, Daniele, Emam Mousavi, Fatemeh, Nelson, Zoe, Gutiérrez-Solana, Luis González, Macnamara, Ellen, Michaud, Vincent, O’Leary, Melanie, Pagani, Lisa, Pavinato, Lisa, Santamaria, Patricia VVelez, Planas-Serra, Laura, Quadri, Manuel, Raspall-Chaure, Miquel, Rebellato, Stefano, Rosenzweig, Sergio D., Roubertie, Agathe, Holzinger, Dirk, Deal, Christin, Vockley, Catherine Walsh, Savino, Angela Maria, L.Stoddard, Jennifer, Uhlig, Holm H., Pujol, Aurora, Magni, Fulvio, Paglia, Giuseppe, Cazzaniga, Gianni, Piazza, Rocco, Barberis, Matteo, Biondi, Andrea

“…Purpose PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual…”
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Autoimmune post–herpes simplex encephalitis of adults and teenagers by Armangue, Thaís, Moris, Germán, Cantarín-Extremera, Verónica, Conde, Carlos Enrique, Rostasy, Kevin, Erro, Maria Elena, Portilla-Cuenca, Juan Carlos, Turón-Viñas, Eulàlia, Málaga, Ignacio, Muñoz-Cabello, Beatriz, Torres-Torres, Carmen, Llufriu, Sara, González-Gutiérrez-Solana, Luis, González, Guillermo, Casado-Naranjo, Ignacio, Rosenfeld, Myrna, Graus, Francesc, Dalmau, Josep, Aguilar, Esther, Aguilera-Albesa, Sergio, Arratibel, Izaskun, Bataller, Luis, Bosch, Beatriz, Cervera, Carlos, Conejo-Moreno, David, Corral, Íñigo, Dapena, Marta, Escudero, Domingo, Estela, Jordi, García-Monco, Juan Carlos, González-Álvarez, Verónica, Güerri, Robert, Guillen-Martin, Sara, López-Cuevas, Rogelio, López, Maria, López-Laso, Eduardo, López-Pisón, Francisco, Pomar, Virginia, Prieto-Tato, Luis Manuel, Martínez-Menéndez, Beatriz, Martin-Gil, Leticia, Navarro-Moron, Juan, Pérez-Poyato, María, Raspall-Chaure, Miquel, Rodes, Maria, Sanchez-Valle, Raquel, Santamaria, Estevo, Soler-Palacín, Pere, Toledo, Manuel, Tomás-Vila, Miguel

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Terapias novedosas en enfermedades neurometabólicas: importancia de una intervención precoz by González Gutiérrez-Solana, Luis

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Síndrome opsoclonus mioclonus. Experiencia en los últimos 12 años en un hospital terciario by Jiménez Legido, María, Cantarín Extremera, Verónica, Fournier del Castillo, María de la Concepción, Melero Llorente, Javier, González Gutiérrez-Solana, Luis

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Encefalitis por anticuerpos contra el receptor de NMDA con afectación hemisférica unilateral by Jiménez Legido, María, Cantarín Extremera, Verónica, Bernardino Cuesta, Beatriz, García Fernández, Marta, López Marín, Laura, Duat Rodríguez, Anna, Ruiz-Falcó Rojas, María Luz, González Gutiérrez-Solana, Luis

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Dos nuevos casos de síndrome de Leigh por mutación m.13513G>A en el gen MTND5 by Jiménez Legido, María, Bernardino Cuesta, Beatriz, López Marín, Laura, Cantarín Extremera, Verónica, Blázquez Encinar, Alberto, Martín Casanueva, Miguel Ángel, González Gutiérrez-Solana, Luis

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