Search

Your search keyword '"González-Gutiérrez-Solana, Luis"' showing total 43 results
Start Over Author "González-Gutiérrez-Solana, Luis"
43 results on '"González-Gutiérrez-Solana, Luis"'

1. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

Author

Alcantud, Alberto, Aguilera-Albesa, Sergio, Alvarez Demanuel, Diana, Alvarez Molinero, Mireia, Aquino Fariña, Lourdes, Arrabal, Luisa, Arriola-Pereda, Gema, Aznar-Laín, Gemma, Benavides-Medina, Maite, Bermejo, Teresa, Blanco-Lago, Raquel, Caballero, Eva, Calvo, Rocío, Camacho Salas, Ana, Conejo-Moreno, David, Delgadillo-Chilavert, Verónica, Elosegi-Castellanos, Amagoia, Esteban Canto, Vanesa, Fernández-Ramos, Joaquín, Garcia-Puig, Montserrat, García-Ribes, Ainhoa, Gómez-Martín, Hilario, Gonzalez-Barrios, Desire, González-Gutiérrez-Solana, Luis, Jimena-Garcia, Sara, Jiménez-Legido, María, Juliá-Palacios, Natalia, López-Laso, Eduardo, Martí-Carrera, Itxaso, Martínez González, Marta, Martín-Viota, Lucía, Mattozi, Simone, Maqueda-Castellote, Elena, Mendibe, Maria D M, Mora-Ramírez, Maria D, Muñoz-Cabello, Beatriz, Navarro-Morón, Juan, Nunes-Cabrera, Tania, Orellana, Gabriela, Pujol-Soler, Berta, Querol, Luis, Ramírez, Alfredo, Rodriguez-Lucenilla, Maria I, Ruiz, Cesar, Soto-Insuga, Víctor, Toledo Bravo de Laguna, Laura, Turon-Viñas, Eulàlia, Vázquez-López, Maria, Villar-Vera, Cristina, Armangue, Thaís, Olivé-Cirera, Gemma, Martínez-Hernandez, Eugenia, Sepulveda, Maria, Ruiz-Garcia, Raquel, Muñoz-Batista, Marta, Ariño, Helena, González-Álvarez, Veronica, Felipe-Rucián, Ana, Jesús Martínez-González, Maria, Cantarín-Extremera, Veronica, Concepción Miranda-Herrero, Maria, Monge-Galindo, Lorena, Tomás-Vila, Miguel, Miravet, Elena, Málaga, Ignacio, Arrambide, Georgina, Auger, Cristina, Tintoré, Mar, Montalban, Xavier, Vanderver, Adeline, Graus, Francesc, Saiz, Albert, and Dalmau, Josep

Published
2020
Full Text
View/download PDF

2. Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inPOLR3A,POLR3BandPOLR1C

Author

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

Published
2023
Full Text
View/download PDF

4. The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other thanSLC2A1

Author

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

Published
2022
Full Text
View/download PDF

5. Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement

Author

Pérez-López, Jordi, Ceberio-Hualde, Leticia, García Morillo, José Salvador, Grau-Junyent, Josep M., Hermida Ameijeiras, Álvaro, López-Rodríguez, Mónica, Morales-Conejo, Montserrat, Nava Mateos, Juan José, Aldámiz Echevarri Azuara, Luis José, Campistol, Jaume, Couce, M. Luz, García-Silva, María Teresa, González Gutiérrez-Solana, Luis, and del Toro, Mireia

Published
2016
Full Text
View/download PDF

6. Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso

Author

Pérez-López, Jordi, Ceberio-Hualde, Leticia, García Morillo, José Salvador, Grau-Junyent, Josep M., Hermida Ameijeiras, Álvaro, López-Rodríguez, Mónica, Morales-Conejo, Montserrat, Nava Mateos, Juan José, Aldámiz Echevarri Azuara, Luis José, Campistol, Jaume, Couce, M. Luz, García-Silva, María Teresa, González Gutiérrez-Solana, Luis, and del Toro, Mireia

Published
2016
Full Text
View/download PDF

8. Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia

Author

Saettini, Francesco, Guerra, Fabiola, Mauri, Mario, Fazio, Grazia, Bugarin, Cristina, Quadri, Manuel, Rebellato, Stefano, Chinello, Clizia, Pagani, Lisa, Malighetti, Federica, González Gutiérrez-Solana, Luis, Denti, Vanna, Emam Mousavi, Fatemeh, Raspall-Chaure, Miquell, Andrea, Martin-Nalda, Barredo, Estibaliz, Adams, David, Melanie, O'Leary, D'Souza, Precilla, Macnamara, Ellen, Rosenzweig, Sergio, Kuehn, Hye Sun, Stoddard, Jennifer, Mefford, Heather C, Mandrile, Giorgia, Pavinato, Lisa, Brusco, Alfredo, Velez Santamaria, Patricia Valentina, Pujol, Aurora, Michaud, Vincent, Roubertie, Agathe, Nelson, Zoe, Adam, Margaret P, Lo, Bernice, Uhlig, Holm, Salter, Claire G, Baple, Emma, Crosby, Andrew H, Bhatia, Sanil, Magni, Fulvio, Paglia, Giuseppe, Cazzaniga, Giovanni, Piazza, Rocco, Biondi, Andrea, and Barberis, Matteo

Published
2023
Full Text
View/download PDF

9. 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

Author

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

Published
2021
Full Text
View/download PDF

10. Value of Thyroid Peroxidase Antibodies in Neuroimmune Diseases: Analysis of Interference During Treatment with Intravenous Immunoglobulins.

Author

Jiménez-Legido, María, Cantarín-Extremera, Verónica, López-Guio, María Eugenia, González-Cervera, Rosa María, Martín-Prado, Silvia, Sebastián-Pérez, Elena, and González-Gutiérrez-Solana, Luis

Subjects
BIOMARKERS, CLINICAL pathology, THYROTROPIN, AUTOANTIBODIES, IMMUNOGLOBULINS, NEUROLOGICAL disorders, THYROXINE, TERTIARY care, RETROSPECTIVE studies, MANN Whitney U Test, FISHER exact test, IMMUNOASSAY, T-test (Statistics), BLOOD sedimentation, DESCRIPTIVE statistics, CHI-squared test, OXIDOREDUCTASES, IMMUNOLOGIC diseases, TRIIODOTHYRONINE, DATA analysis software, LONGITUDINAL method, CHILDREN
Abstract

Objective The absence of specific markers can make the diagnosis of neuroimmune disorders difficult, making other biomarkers such as thyroid peroxidase antibodies (TPO-Abs) more relevant. Laboratory tests are susceptible to interference, especially those tests performed using immunoassay techniques. The effect of treatment with human intravenous immunoglobulin (IVIG) on the results of TPO-Abs assays has not been previously characterized. Materials and Methods We analyzed TPO-Abs levels in 170 children monitored in the neuroimmune disease department of a tertiary hospital. We analyzed the characteristics of patients with increased TPO-Abs values and compared their progress with and without treatment. Results We found that 97% of patients with elevated TPO-Abs had received IVIG. After withdrawal from IVIG, a mean TPO-Abs decrease of 62.5% at 1 month was observed. The IVIG drug preparation was found to contain 1176 U/mL of TPO-Abs. An interferogram confirmed interference. Conclusion It is advisable to measure levels of TPO-Abs before starting immunotherapy and remain vigilant regarding possible interference in the event of unsubstantiated elevations of this analyte. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

12. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

Author

Marti‐Sanchez, Laura, primary, Baide‐Mairena, Heidy, additional, Marcé‐Grau, Anna, additional, Pons, Roser, additional, Skouma, Anastasia, additional, López‐Laso, Eduardo, additional, Sigatullina, Maria, additional, Rizzo, Cristiano, additional, Semeraro, Michela, additional, Martinelli, Diego, additional, Carrozzo, Rosalba, additional, Dionisi‐Vici, Carlo, additional, González‐Gutiérrez‐Solana, Luis, additional, Correa‐Vela, Marta, additional, Ortigoza‐Escobar, Juan Dario, additional, Sánchez‐Montañez, Ángel, additional, Vazquez, Élida, additional, Delgado, Ignacio, additional, Aguilera‐Albesa, Sergio, additional, Yoldi, María Eugenia, additional, Ribes, Antonia, additional, Tort, Frederic, additional, Pollini, Luca, additional, Galosi, Serena, additional, Leuzzi, Vincenzo, additional, Tolve, Manuela, additional, Pérez‐Gay, Laura, additional, Aldamiz‐Echevarría, Luis, additional, Del Toro, Mireia, additional, Arranz, Antonio, additional, Roelens, Filip, additional, Urreizti, Roser, additional, Artuch, Rafael, additional, Macaya, Alfons, additional, and Pérez‐Dueñas, Belén, additional

Published
2020
Full Text
View/download PDF

13. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

Author

Armangue, Thaís, primary, Olivé-Cirera, Gemma, additional, Martínez-Hernandez, Eugenia, additional, Sepulveda, Maria, additional, Ruiz-Garcia, Raquel, additional, Muñoz-Batista, Marta, additional, Ariño, Helena, additional, González-Álvarez, Veronica, additional, Felipe-Rucián, Ana, additional, Jesús Martínez-González, Maria, additional, Cantarín-Extremera, Veronica, additional, Concepción Miranda-Herrero, Maria, additional, Monge-Galindo, Lorena, additional, Tomás-Vila, Miguel, additional, Miravet, Elena, additional, Málaga, Ignacio, additional, Arrambide, Georgina, additional, Auger, Cristina, additional, Tintoré, Mar, additional, Montalban, Xavier, additional, Vanderver, Adeline, additional, Graus, Francesc, additional, Saiz, Albert, additional, Dalmau, Josep, additional, Alcantud, Alberto, additional, Aguilera-Albesa, Sergio, additional, Alvarez Demanuel, Diana, additional, Alvarez Molinero, Mireia, additional, Aquino Fariña, Lourdes, additional, Arrabal, Luisa, additional, Arriola-Pereda, Gema, additional, Aznar-Laín, Gemma, additional, Benavides-Medina, Maite, additional, Bermejo, Teresa, additional, Blanco-Lago, Raquel, additional, Caballero, Eva, additional, Calvo, Rocío, additional, Camacho Salas, Ana, additional, Conejo-Moreno, David, additional, Delgadillo-Chilavert, Verónica, additional, Elosegi-Castellanos, Amagoia, additional, Esteban Canto, Vanesa, additional, Fernández-Ramos, Joaquín, additional, Garcia-Puig, Montserrat, additional, García-Ribes, Ainhoa, additional, Gómez-Martín, Hilario, additional, Gonzalez-Barrios, Desire, additional, González-Gutiérrez-Solana, Luis, additional, Jimena-Garcia, Sara, additional, Jiménez-Legido, María, additional, Juliá-Palacios, Natalia, additional, López-Laso, Eduardo, additional, Martí-Carrera, Itxaso, additional, Martínez González, Marta, additional, Martín-Viota, Lucía, additional, Mattozi, Simone, additional, Maqueda-Castellote, Elena, additional, Mendibe, Maria D M, additional, Mora-Ramírez, Maria D, additional, Muñoz-Cabello, Beatriz, additional, Navarro-Morón, Juan, additional, Nunes-Cabrera, Tania, additional, Orellana, Gabriela, additional, Pujol-Soler, Berta, additional, Querol, Luis, additional, Ramírez, Alfredo, additional, Rodriguez-Lucenilla, Maria I, additional, Ruiz, Cesar, additional, Soto-Insuga, Víctor, additional, Toledo Bravo de Laguna, Laura, additional, Turon-Viñas, Eulàlia, additional, Vázquez-López, Maria, additional, and Villar-Vera, Cristina, additional

Published
2020
Full Text
View/download PDF

14. Diagnosis and follow-up of patients with Hunter syndrome in Spain

Author

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

Subjects
Consensus, idursulfase, Delphi Technique, diagnosis, Observational Study, mucopolysaccharidosis type II, Delphi, Spain, Surveys and Questionnaires, Practice Guidelines as Topic, Hunter syndrome, Humans, Enzyme Replacement Therapy, Guideline Adherence, Pediatricians, Practice Patterns, Physicians', management, Research Article, Follow-Up Studies, Mucopolysaccharidosis II
Abstract

Hunter syndrome or mucopolysaccharidosis type II (MPSII) is a progressive multisystem X-linked lysosomal storage disease caused by mutations in the IDS gene that shows a wide spectrum of clinical symptoms and severity. Idursulfase, a specific enzyme replacement therapy (ERT) for MPSII, has been available since 2007. ERT, along with symptomatic management of patients, is fundamental for improving patient prognosis and quality of life. The aims of this study were to investigate whether Spanish pediatricians who are experts in managing the disease agreed with current international guidelines regarding MPSII patient diagnosis and follow-up; and to reach a consensus regarding which items are essential for the diagnosis, follow-up, and treatment of these patients in Spain. An advisory panel of 5 experts from the Hunter Spanish Working Group reviewed key studies, developed a questionnaire based on a modified Delphi method, sent the questionnaire to selected experts, and reviewed the responses. The final questionnaire had 83 items in the following categories: diagnosis, ERT considerations after diagnosis, Periodic assessments, and ERT considerations during follow-up. A total of 85 experts were invited to participate; 28 (35%) responded and showed a strong consensus for most items. The advisory panel decided not to perform a second Delphi round. There was strong agreement (>3.1 median value; range, 1 to 4) for 43/56 items in Diagnosis, for 4/6 items in “ERT considerations after diagnosis,” for 6/16 items in “Periodic assessments,” and for 3/5 items in “ERT considerations during follow-up.” Most responses were in agreement with international guidelines, and controversial items were discussed by the advisory panel. Based on the results, on the key studies, and on clinical experience and opinions, the panel developed and scheduled recommendations for the diagnosis and follow-up of patients with MPSII. An expert 5-person panel oversaw a Delphi survey of 28 pediatricians and reached a consensus on recommendations for the diagnosis and follow-up of MPSII patients. This document will help guide clinicians involved in the diagnosis, management, and treatment of MPSII.

Published
2018

15. Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

Author

Medrano, Celia, primary, Vega, Ana, additional, Navarrete, Rosa, additional, Ecay, M. Jesús, additional, Calvo, Rocío, additional, Pascual, Samuel Ignacio, additional, Ruiz‐Pons, Mónica, additional, Toledo, Laura, additional, García‐Jiménez, Inmaculada, additional, Arroyo, Ignacio, additional, Campo, Andrea, additional, Couce, M. Luz, additional, Domingo‐Jiménez, M. Rosario, additional, García‐Silva, M. Teresa, additional, González‐Gutiérrez‐Solana, Luis, additional, Hierro, Loreto, additional, Martín‐Hernández, Elena, additional, Martínez‐Pardo, Mercedes, additional, Roldán, Susana, additional, Tomás, Miguel, additional, Cabrera, Jose C., additional, Mártinez‐Bugallo, Francisco, additional, Martín‐Viota, Lucía, additional, Vitoria‐Miñana, Isidro, additional, Lefeber, Dirk J., additional, Girós, M. Luisa, additional, Serrano Gimare, Mercedes, additional, Ugarte, Magdalena, additional, Pérez, Belén, additional, and Pérez‐Cerdá, Celia, additional

Published
2019
Full Text
View/download PDF

16. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Author

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, and Yoldi, María Eugenia

Abstract

The neurological phenotype of 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH) and short‐chain enoyl‐CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. From 42 patients with Leigh syndrome studied by massive parallel sequencing, we identified five patients with SCEH and HIBCH deficiency. Fourteen additional patients were recruited through collaborations with other centres. In total, we analysed the neurological features and mutation spectrum in 19 new SCEH/HIBCH patients. For natural history studies and phenotype to genotype associations we also included 70 previously reported patients. The 19 newly identified cases presented with Leigh syndrome (SCEH, n = 11; HIBCH, n = 6) and paroxysmal dystonia (SCEH, n = 2). Basal ganglia lesions (18 patients) were associated with small cysts in the putamen/pallidum in half of the cases, a characteristic hallmark for diagnosis. Eighteen pathogenic variants were identified, 11 were novel. Among all 89 cases, we observed a longer survival in HIBCH compared to SCEH patients, and in HIBCH patients carrying homozygous mutations on the protein surface compared to those with variants inside/near the catalytic region. The SCEH p.(Ala173Val) change was associated with a milder form of paroxysmal dystonia triggered by increased energy demands. In a child harbouring SCEH p.(Ala173Val) and the novel p.(Leu123Phe) change, an 83.6% reduction of the protein was observed in fibroblasts. The SCEH and HIBCH defects in the catabolic valine pathway were a frequent cause of Leigh syndrome in our cohort. We identified phenotype and genotype associations that may help predict outcome and improve clinical management. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

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

Author

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, González Gutiérrez-Solana, Luis, Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, R., Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya Ruiz, Alfons, Fernández-Fernández, José M., Serrano, Mercedes, and Universitat Autònoma de Barcelona

Subjects
0301 basic medicine, Male, Cerebellum, ataxia, cerebellum, congenital disorders of glycosylation, magentic resonance Imaging (MRI), stroke-like, CaV2.1 voltage-gated calcium channel, Glycosylation, medicine.disease_cause, lcsh:Chemistry, 0302 clinical medicine, Congenital disorders of glycosylation, Child, Stroke, lcsh:QH301-705.5, Spectroscopy, Familial hemiplegic migraine, Mutation, Tunicamycin, Electroencephalography, General Medicine, Phenotype, Magnetic Resonance Imaging, Computer Science Applications, medicine.anatomical_structure, Phosphotransferases (Phosphomutases), Child, Preschool, Female, medicine.symptom, Ion Channel Gating, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Stroke-like, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Ca2.1 voltage-gated calcium channel, Channelopathy, Cerebellar Diseases, medicine, Humans, Amino Acid Sequence, Physical and Theoretical Chemistry, Molecular Biology, business.industry, Organic Chemistry, Magentic resonance Imaging (MRI), medicine.disease, 030104 developmental biology, HEK293 Cells, lcsh:Biology (General), lcsh:QD1-999, Immunology, Channelopathies, Calcium Channels, business, 030217 neurology & neurosurgery, Phosphomannomutase
Abstract

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical variables to detect risk factors for SLE in a series of 43 PMM2-CDG patients. We explore the hypothesis of abnormal CaV2.1 function due to aberrant N-glycosylation as a potential novel pathomechanism of SLE and ataxia in PMM2-CDG by using whole-cell patch-clamp, N-glycosylation blockade and mutagenesis. Nine SLE were identified. Neuroimages showed no signs of stroke. Comparison of characteristics between SLE positive versus negative patients' group showed no differences. Acute and chronic phenotypes of patients with PMM2-CDG or CACNA1A channelopathies show similarities. Hypoglycosylation of both CaV2.1 subunits (α1A and α2α) induced gain-of-function effects on channel gating that mirrored those reported for pathogenic CACNA1A mutations linked to FHM and ataxia. Unoccupied N-glycosylation site N283 at α1A contributes to a gain-of-function by lessening CaV2.1 inactivation. Hypoglycosylation of the α₂δ subunit also participates in the gain-of-function effect by promoting voltage-dependent opening of the CaV2.1 channel. CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients. Aberrant CaV2.1 N-glycosylation as a novel pathomechanism in PMM2-CDG opens new therapeutic possibilities. This work was supported by national grant PI14/00021 and PI17/00101 from the National Plan on I+D+I, cofinanced by ISC-III (Subdirección General de Evaluación y Fomento de la Investigación Sanitaria), the Spanish Ministry of Economy and Competitiveness (Grants IPT-2012-0561-010000, SAF2015-69762-R, MDM-2014-0370 through the “María de Maeztu” Programme for Units of Excellence in R&D to “Departament de Ciències Experimentals i de la Salut”), FEDER (Fondo Europeo de Desarrollo Regional), and the Migraine Research Foundation (New York, USA). Mercè Izquierdo-Serra holds a “Juan de la Cierva-Formación” Fellowship funded by the Spanish Ministry of Economy and Competitiveness.

Published
2018

20. Autoimmune post-herpes simplex encephalitis of adults and teenagers

Author

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, and Dalmau, Josep

Subjects
Adult, Male, Young Adult, Adolescent, Humans, Female, Herpes Simplex, Single-Blind Method, Encephalitis, Herpes Simplex, Immunotherapy, Prospective Studies, Middle Aged, Aged
Abstract

To report 14 patients with immune-mediated relapsing symptoms post-herpes simplex encephalitis (HSE) and to compare the clinical and immunologic features of the teenage and adult group with those of young children.

Published
2015

23. Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso

Author

Pérez-López, Jordi, Ceberio-Hualde, Leticia, García Morillo, José Salvador, Grau-Junyent, Josep M., Hermida Ameijeiras, Álvaro, López-Rodríguez, Mónica, Morales-Conejo, Montserrat, Nava Mateos, Juan José, Aldámiz Echevarri Azuara, Luis José, Campistol, Jaume, Couce, M. Luz, García-Silva, María Teresa, González Gutiérrez-Solana, Luis, and del Toro, Mireia

Abstract

El proceso de transición de la asistencia pediátrica a la adulta es un tema de gran interés en los últimos años, especialmente en enfermedades crónicas de inicio en la infancia, como los errores congénitos del metabolismo (ECM). Los avances en el diagnóstico y el tratamiento de estas enfermedades han mejorado su pronóstico, encontrando en la actualidad un elevado número de pacientes con ECM que alcanzan la edad adulta y necesitan ser atendidos por profesionales no pediátricos. El objetivo de este trabajo es establecer unas pautas de actuación para que los especialistas involucrados garanticen una transición exitosa de la atención sanitaria de estos pacientes.

Published
2024
Full Text
View/download PDF

24. Autoimmune post–herpes simplex encephalitis of adults and teenagers

Author

Armangue, Thaís, primary, Moris, Germán, additional, Cantarín-Extremera, Verónica, additional, Conde, Carlos Enrique, additional, Rostasy, Kevin, additional, Erro, Maria Elena, additional, Portilla-Cuenca, Juan Carlos, additional, Turón-Viñas, Eulàlia, additional, Málaga, Ignacio, additional, Muñoz-Cabello, Beatriz, additional, Torres-Torres, Carmen, additional, Llufriu, Sara, additional, González-Gutiérrez-Solana, Luis, additional, González, Guillermo, additional, Casado-Naranjo, Ignacio, additional, Rosenfeld, Myrna, additional, Graus, Francesc, additional, and Dalmau, Josep, additional

Published
2015
Full Text
View/download PDF

26. Utilización de bromuros en cinco pacientes epilépticos

Author

Hortigüela Saeta, María Montesclaros, primary, Cantarín Extremera, Verónica, additional, Conejo Moreno, David, additional, González Gutiérrez-Solana, Luis, additional, Rekarte García, Saray, additional, Fernández García, Miguel Ángel, additional, Jiménez Echevarría, Saioa, additional, Bermejo Arnedo, Ignacio, additional, and Lorenzo Ruiz, María, additional

Published
2015
Full Text
View/download PDF

27. Biallelic PI4KAmutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia

Author

Saettini, Francesco, Guerra, Fabiola, Mauri, Mario, Fazio, Grazia, Bugarin, Cristina, Quadri, Manuel, Rebellato, Stefano, Chinello, Clizia, Pagani, Lisa, Malighetti, Federica, González Gutiérrez-Solana, Luis, Denti, Vanna, Emam Mousavi, Fatemeh, Raspall-Chaure, Miquell, Andrea, Martin-Nalda, Barredo, Estibaliz, Adams, David, Melanie, O'Leary, D'Souza, Precilla, Macnamara, Ellen, Rosenzweig, Sergio, Kuehn, Hye Sun, Stoddard, Jennifer, Mefford, Heather C, Mandrile, Giorgia, Pavinato, Lisa, Brusco, Alfredo, Velez Santamaria, Patricia Valentina, Pujol, Aurora, Michaud, Vincent, Roubertie, Agathe, Nelson, Zoe, Adam, Margaret P, Lo, Bernice, Uhlig, Holm, Salter, Claire G, Baple, Emma, Crosby, Andrew H, Bhatia, Sanil, Magni, Fulvio, Paglia, Giuseppe, Cazzaniga, Giovanni, Piazza, Rocco, Biondi, Andrea, and Barberis, Matteo

Abstract

Introduction

Published
2023
Full Text
View/download PDF

43. Neuropaludismo infantil

Author

García Peñas, Juan José, primary, Quintero Calcaño, Víctor, additional, González Gutiérrez-Solana, Luis, additional, and Ruiz-Falcó Rojas, María Luz, additional

Published
2000
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results