Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Clara Carnicer"'
Autor:
Alba Navarro-Romero, Irene Fernandez-Gonzalez, Jordi Riera, Marta Montpeyo, Merce Albert-Bayo, Tresa Lopez-Royo, Pablo Castillo-Sanchez, Clara Carnicer-Caceres, Jose Antonio Arranz-Amo, Laura Castillo-Ribelles, Eddie Pradas, Josefina Casas, Miquel Vila, Marta Martinez-Vicente
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-15 (2022)
Abstract Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major genetic risk factor for Parkinson’s disease (PD). In this study, we generated a set of differentiated and stable human dopaminergic cell
Externí odkaz:
https://doaj.org/article/7468460f4b9543b4905ae2accc258d51
Autor:
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/f7fdb958d90148a694eda2e93c480bad
Autor:
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Alteration of vitamin B12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and intervention is critica
Externí odkaz:
https://doaj.org/article/61104677d41940e4bdc41c1f07d3e805
Autor:
Júlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de las Heras, Amaia Lasa-Aranzasti, Elena Garcia-Arumi, Lidia Carreño, Jose Antonio Arranz, Clara Carnicer, María Unceta-Suárez, Angel Sanchez-Montañez, Laura Gort, Frederic Tort, Mireia del Toro
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100690- (2021)
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failur
Externí odkaz:
https://doaj.org/article/acea3658f5bd4727b3e310ec0b2b0b1b
Autor:
Nuria Bujan, Constanza Morén, Francesc J. García-García, Alberto Blázquez, Clara Carnicer, Ana Belén Cortés, Cristina González, Ester López-Gallardo, Ester Lozano, Sonia Moliner, Laura Gort, Ester Tobías, Aitor Delmiro, Miguel Ángel Martin, Miguel Ángel Fernández-Moreno, Eduardo Ruiz-Pesini, Elena Garcia-Arumí, Juan Carlos Rodríguez-Aguilera, Glòria Garrabou
Publikováno v:
Antioxidants, Vol 11, Iss 4, p 741 (2022)
The quantification of mitochondrial respiratory chain (MRC) enzymatic activities is essential for diagnosis of a wide range of mitochondrial diseases, ranging from inherited defects to secondary dysfunctions. MRC lesion is frequently linked to extend
Externí odkaz:
https://doaj.org/article/d0611c0ec08947eb8c86d361cf171d51
Autor:
Alfons Segarra-Medrano, Clara Carnicer-Caceres, Naiara Valtierra-Carmeno, Irene Agraz-Pamplona, Natalia Ramos-Terrades, Elías Jatem Escalante, Elena Ostos-Roldan
Publikováno v:
Nefrología (English Edition), Vol 37, Iss 5, Pp 531-538 (2017)
Objective: To analyse the associations between urinary levels of IL-6 EGF, MCP-1 and TGFβ1 and clinical, biochemical and histopathological characteristics in patients with primary IgA nephropathy and their ability to predict the extent of lesions of
Externí odkaz:
https://doaj.org/article/da8be617d3c54139a9cd1b1929726646
Autor:
Alfons Segarra-Medrano, Clara Carnicer-Caceres, Naiara Valtierra-Carmeno, Irene Agraz-Pamplona, Natalia Ramos-Terrades, Elías Jatem Escalante, Elena Ostos-Roldan
Publikováno v:
Nefrología, Vol 37, Iss 5, Pp 531-538 (2017)
Objetivo: Analizar las asociaciones entre el nivel urinario de IL-6, EGF, MCP-1 y TGFβ1 y las características clínicas, bioquímicas y anatomopatológicas en enfermos con nefropatía IgA primaria y determinar su capacidad para realizar una estimac
Externí odkaz:
https://doaj.org/article/4b244f4b82a94ec594b5e25e4b62aa2d
Autor:
Clara Carnicer-Cáceres, Jose Antonio Arranz-Amo, Cristina Cea-Arestin, Maria Camprodon-Gomez, David Moreno-Martinez, Sara Lucas-Del-Pozo, Marc Moltó-Abad, Ariadna Tigri-Santiña, Irene Agraz-Pamplona, Jose F Rodriguez-Palomares, Jorge Hernández-Vara, Mar Armengol-Bellapart, Mireia del-Toro-Riera, Guillem Pintos-Morell
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 8, p 1664 (2021)
Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tiss
Externí odkaz:
https://doaj.org/article/59c9a80aa0884945976279eb1f394f06
Autor:
Alfons Segarra-Medrano, Clara Carnicer-Caceres, Naiara Valtierra-Carmeno, Irene Agraz-Pamplona, Natalia Ramos-Terrades, Elías Jatem Escalante, Elena Ostos-Roldan
Publikováno v:
Nefrología, Vol 37, Iss 3, Pp 320-329 (2017)
Objetivos: 1) Identificar las variables que se asocian con los niveles urinarios de MBL, C4d y C5b-9 en enfermos con nefropatía IgA idiopática. 2) Analizar si los niveles urinarios de MBL o C4d son útiles para identificar la presencia de depósito
Externí odkaz:
https://doaj.org/article/9596764a3cf54e839900829c37abb153
Autor:
Alfons Segarra-Medrano, Clara Carnicer-Caceres, Naiara Valtierra-Carmeno, Irene Agraz-Pamplona, Natalia Ramos-Terrades, Elías Jatem Escalante, Elena Ostos-Roldan
Publikováno v:
Nefrología (English Edition), Vol 37, Iss 3, Pp 320-329 (2017)
Objectives: 1. To identify the variables that are associated with urinary levels of properdin, MBL, C4d, and C5b-9 in patients with idiopathic IgA nephropathy. 2. To analyse whether urinary levels of MBL and/or C4d are useful for identifying the pres
Externí odkaz:
https://doaj.org/article/3e2567761c0d4b0fbceff5d63488207b