Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Mireia del Toro"'
Autor:
Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/
Externí odkaz:
https://doaj.org/article/2dfa1e8234864677aabd2a18c1c7242e
Autor:
M. Mar Rovira-Remisa, Mónica Moreira, Paula Sol Ventura, Pablo Gonzalez-Alvarez, Núria Mestres, Fredzzia Graterol Torres, Clara Joaquín, Agustí Rodríguez-Palmero Seuma, Maria del Mar Martínez-Colls, Ana Roche, Salvador Ibáñez-Micó, Eduardo López-Laso, María Jesús Méndez-Hernández, Marta Murillo, Laura Monlleó-Neila, Elena Maqueda-Castellote, Mireia del Toro Riera, Ana Felipe-Rucián, Maria Giralt-López, Elisenda Cortès-Saladelafont
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100962- (2023)
Introduction: The Covid-19 pandemic soon became an international health emergency raising concern about its impact not only on physical health but also on quality of life and mental health. Rare diseases are chronically debilitating conditions with c
Externí odkaz:
https://doaj.org/article/a35c47124c8f40768c3c174665676a2e
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:
Daniel Rodrigues, Maria José de Castro, Pablo Crujeiras, Anna Duat-Rodriguez, Ana Victoria Marco, Mireia del Toro, María L. Couce, Cristóbal Colón
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
IntroductionNeuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders. Neuronal Ceroid lipofuscinosis type 2 disease (NCL2), caused by the deficient lysosomal e
Externí odkaz:
https://doaj.org/article/d3c8bcd8eec841d0b9ab74134019f7df
Autor:
Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/3525e157591141978b324498de1df8af
Autor:
Karolina M. Stepien, Anait K. Gevorkyan, Christian J. Hendriksz, Tinatin V. Lobzhanidze, Jordi Pérez-López, Govind Tol, Mireia del Toro Riera, Nato D. Vashakmadze, Christina Lampe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly su
Externí odkaz:
https://doaj.org/article/a423c78ffa064dbfada15ea503bc8467
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:
Karolina M. Stepien, Beata Kieć-Wilk, Christina Lampe, Trine Tangeraas, Graziella Cefalo, Nadia Belmatoug, Rita Francisco, Mireia del Toro, Leona Wagner, Anne-Grethe Lauridsen, Sylvia Sestini, Nathalie Weinhold, Andreas Hahn, Chiara Montanari, Valentina Rovelli, Cinzia M. Bellettato, Laura Paneghetti, Corine van Lingen, Maurizio Scarpa
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have improved the life expectancy of IMD patients over the last decades, with the majority of patient
Externí odkaz:
https://doaj.org/article/ab9c00a893ff40469cdc81bd147cbd63
Autor:
Anupam Chakrapani, Vassili Valayannopoulos, Nuria García Segarra, Mireia Del Toro, Maria Alice Donati, Angeles García-Cazorla, María Julieta González, Celine Plisson, Vincenzo Giordano
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background Hyperammonaemia is a key sign of decompensation in organic acidurias (OAs) and can contribute to severe neurological complications, thus requiring rapid treatment. Methods A post-hoc analysis of two retrospective studies analysed
Externí odkaz:
https://doaj.org/article/29e9b5f3d6da47d29d22f5ccee2d9923