Search Results - "Manuel POSADA DE LA PAZ"

Psychosocial impact at the time of a rare disease diagnosis by Benito-Lozano, Juan, Arias-Merino, Greta, Gómez-Martínez, Mario, Arconada-López, Beatriz, Ruiz-García, Begoña, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica

“…Over half of all persons with rare diseases (RDs) in Spain experience diagnostic delay (DD) but little is known about its consequences. This study therefore…”
Get full text

Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry by Benito-Lozano, Juan, López-Villalba, Blanca, Arias-Merino, Greta, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica

“…According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study sought:…”
Get full text

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers by Gainotti, Sabina, Torreri, Paola, Wang, Chiuhui Mary, Reihs, Robert, Mueller, Heimo, Heslop, Emma, Roos, Marco, Badowska, Dorota Mazena, de Paulis, Federico, Kodra, Yllka, Carta, Claudio, Martìn, Estrella Lopez, Miller, Vanessa Rangel, Filocamo, Mirella, Mora, Marina, Thompson, Mark, Rubinstein, Yaffa, Posada de la Paz, Manuel, Monaco, Lucia, Lochmüller, Hanns, Taruscio, Domenica

“…In rare disease (RD) research, there is a huge need to systematically collect biomaterials, phenotypic, and genomic data in a standardized way and to make them…”
Get full text

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry by Lopez-de la Rosa, Alberto, Telleria, Juan J, Posada de la Paz, Manuel, Hermosilla-Gimeno, Isabel M, Rivas, Miren Agurtzane, Gilabert, Raúl, Coco-Martín, Rosa M

“…The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic…”
Get full text

Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain by Sánchez-Díaz, Germán, Escobar, Francisco, Badland, Hannah, Arias-Merino, Greta, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica

“…The etiology of motor neuron disease (MND) is still unknown. The aims of this study were to: (1) analyze MND mortality at a fine-grained level; and (2) explore…”
Get full text

Screening for autism spectrum disorders: state of the art in Europe by García-Primo, Patricia, Hellendoorn, Annika, Charman, Tony, Roeyers, Herbert, Dereu, Mieke, Roge, Bernadette, Baduel, Sophie, Muratori, Filippo, Narzisi, Antonio, Van Daalen, Emma, Moilanen, Irma, de la Paz, Manuel Posada, Canal-Bedia, Ricardo

“…A large number of studies have reported on the validity of autism spectrum disorder (ASD) screening procedures. An overall understanding of these studies’…”
Get full text

A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain by Llamosas-Falcón, Laura, Sánchez-Díaz, Germán, Gallego, Elisa, Villaverde-Hueso, Ana, Arias-Merino, Greta, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica

“…Muscular dystrophies (MD) are a group of rare hereditary degenerative diseases. Our aim was to analyze the mortality pattern in Spain from 1981 to 2016 to…”
Get full text

Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire by Villar Hernández, Alvaro, Molero Alonso, Fernando, Aguado Marín, Álvaro, Posada de la Paz, Manuel

“…Introduction: Epidermolysis bullosa (EB) is a relatively infrequent genodermatosis for which there is still no cure, and which impacts the quality of life of…”
Get full text

Mortality Due to Cystic Fibrosis over a 36-Year Period in Spain: Time Trends and Geographic Variations by Villaverde-Hueso, Ana, Sánchez-Díaz, Germán, Molina-Cabrero, Francisco J, Gallego, Elisa, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica

“…The aim of this study is to analyze population-based mortality attributed to cystic fibrosis (CF) over 36 years in Spain. CF deaths were obtained from the…”
Get full text

A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies by Alonso-Ferreira, Verónica, Sánchez-Díaz, Germán, Villaverde-Hueso, Ana, Posada de la Paz, Manuel, Bermejo-Sánchez, Eva

“…This study aimed to analyse population-based mortality attributed to rare congenital anomalies (CAs) and assess the associated time trends and geographical…”
Get full text

Fabry Nephropathy: An Evidence-Based Narrative Review by del Pino, María, Andrés, Amado, Bernabéu, Ana Ávila, de Juan-Rivera, Joaquín, Fernández, Elvira, de Dios García Díaz, Juan, Hernández, Domingo, Luño, José, Fernández, Isabel Martínez, Paniagua, José, Posada de la Paz, Manuel, Rodríguez-Pérez, José Carlos, Santamaría, Rafael, Torra, Roser, Ambros, Joan Torras, Vidau, Pedro, Torregrosa, Josep-Vicent

“…Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in…”
Get full text

The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration by Taruscio, Domenica, Mollo, Emanuela, Gainotti, Sabina, Posada de la Paz, Manuel, Bianchi, Fabrizio, Vittozzi, Luciano

“…The European Union acknowledges the relevance of registries as key instruments for developing rare disease (RD) clinical research, improving patient care and…”
Get full text

Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria by Primo, Patricia Garcia, Weber, Christoph, de la Paz, Manuel Posada, Fellinger, Johannes, Dirmhirn, Anna, Holzinger, Daniel

“…This study explored (i) differences in age at Autism Spectrum Disorder (ASD) diagnosis between children with and without a migrant background in the main…”
Get full text

Temporal and Cartographic Analyses of the Distribution within Spain of Mortality Due to Granulomatosis with Polyangiitis (1984⁻2016) by Sánchez-Díaz, Germán, Escobar, Francisco, Villaverde-Hueso, Ana, de la Paz, Manuel Posada, Alonso-Ferreira, Verónica

“…The aim is to conduct a descriptive, population-based study in order to assess temporal and spatial changes in mortality due to granulomatosis with…”
Get full text

Predictors of autism spectrum disorder diagnosis in a spanish sample of preterm children with very low birthweight: A cross‐sectional study by Magán‐Maganto, María, Canal‐Bedia, Ricardo, Bejarano‐Martín, Álvaro, Martín‐Cilleros, Maria Victoria, Hernández‐Fabián, Aránzazu, Calvarro‐Castañeda, Andrea Luz, Roeyers, Herbert, Jenaro‐Río, Cristina, Posada de la Paz, Manuel

“…Background and Aims Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a higher likelihood of being diagnosed in preterm populations…”
Get full text

El trastorno del espectro autista en la Unión Europea (ASDEU) by Posada de la Paz, Manuel, Canal-Bedia, Ricardo

“…La mejora de los servicios de apoyo para las personas con trastorno del espectro autista (TEA) y a sus familias en Europa requiere conocer su realidad…”
Get full text

The Spanish Toxic Oil Syndrome 20 Years after Its Onset: A Multidisciplinary Review of Scientific Knowledge by Gelpí, Emilio, de la Paz, Manuel Posada, Terracini, Benedetto, Abaitua, Ignacio, de la Cámara, Agustín Gómez, Kilbourne, Edwin M., Lahoz, Carlos, Nemery, Bénoit, Philen, Rossanne M., Soldevilla, Luis, Tarkowski, Stanislaw

“…In 1981, in Spain, the ingestion of an oil fraudulently sold as olive oil caused an outbreak of a previously unrecorded condition, later known as toxic oil…”
Get full text

Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations by Gallego, Elisa, Arias-Merino, Greta, Sánchez-Díaz, Germán, Villaverde-Hueso, Ana, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica

“…Familial Mediterranean Fever (FMF) is a rare, hereditary, auto-inflammatory disease. The aims of this study were to explore the time trend and geographical…”
Get full text

Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay by Benito-Lozano, Juan, Arias-Merino, Greta, Gómez-Martínez, Mario, Ancochea-Díaz, Alba, Aparicio-García, Aitor, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica

“…Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of…”
Get full text

Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives by Bejarano-Martín, Álvaro, Canal-Bedia, Ricardo, Magán-Maganto, María, Fernández-Álvarez, Clara, Cilleros-Martín, María Victoria, Sánchez-Gómez, María Cruz, García-Primo, Patricia, Rose-Sweeney, Mary, Boilson, Andrew, Linertová, Renata, Roeyers, Herbert, Van der Paelt, Sara, Schendel, Diana, Warberg, Christine, Cramer, Susanne, Narzisi, Antonio, Muratori, Filippo, Scattoni, María Luisa, Moilanen, Irma, Yliherva, Anneli, Saemundsen, Evald, Loa Jónsdóttir, Sigríður, Efrim-Budisteanu, Magdalena, Arghir, Aurora, Papuc, Sorina Mihaela, Vicente, Astrid, Rasga, Celia, Rogé, Bernadette, Guillon, Quentin, Baduel, Sophie, Kafka, Johanna Xenia, Poustka, Luise, Kothgassner, Oswald D., Kawa, Rafal, Pisula, Ewa, Sellers, Tracey, Posada de la Paz, Manuel

“…Early services for ASD need to canvas the opinions of both parents and professionals. These opinions are seldom compared in the same research study. This study…”
Get full text