Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Javier De las Heras"'
Autor:
María José de Castro, Simon A Jones, Javier de las Heras, Paula Sánchez-Pintos, María L Couce, Cristóbal Colón, Pablo Crujeiras, María Unceta, Heather Church, Kathryn Brammeier, Wu Hoi Yee, James Cooper, Laura López de Frutos, Irene Serrano-Gonzalo, María José Camba, Fiona J. White, Victoria Holmes, Arunabha Ghosh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, p
Externí odkaz:
https://doaj.org/article/b5c38565cdd44d16807759d4ee950516
Autor:
Willem Bosman, Gijs A. C. Franken, Javier de las Heras, Leire Madariaga, Tahsin Stefan Barakat, Rianne Oostenbrink, Marjon van Slegtenhorst, Ana Perdomo-Ramírez, Félix Claverie-Martín, Albertien M. van Eerde, Rosa Vargas-Poussou, Laurence Derain Dubourg, Irene González-Recio, Luis Alfonso Martínez-Cruz, Jeroen H. F. de Baaij, Joost G. J. Hoenderop
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype–phenotype relationship in affected individuals with CNN
Externí odkaz:
https://doaj.org/article/5f5146f8f8c742b290ce015d63777a81
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
The homeostasis of the most important nitrogen-containing intermediates, ammonia and glutamine, is a tightly regulated process in which the gut-liver axis plays a central role. Several studies revealed that nitrogen metabolism is altered in Metabolic
Externí odkaz:
https://doaj.org/article/2599761a436f4211b50a0216bf47a6fd
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:
Leire Torices, Javier de las Heras, Juan Carlos Arango-Lasprilla, Jesús M. Cortés, Caroline E. Nunes-Xavier, Rafael Pulido
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100710- (2021)
Mutations in the MMADHC gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism. CblD patients present methylmalonic aciduria (MMA), homocystinuria (HC), or c
Externí odkaz:
https://doaj.org/article/8a996780f8ea4a1e8c29bc9f60e9b67b
Autor:
Javier de las Heras, Ainara Cano, Ana Vinuesa, Marta Montes, María Unceta Suarez, Arantza Arza, Saioa Jiménez, Elena Vera, Marta del Hoyo, Miriam Gendive, Lizar Aguirre, Gisela Muñoz, Javier Fernández, Cynthia Ruiz-Espinoza, María Ángeles Fernández, José Miguel Galdeano, Irene Rodríguez, Lourdes Román, Amaya Rodríguez-Serna, Begoña Loureiro, Itziar Astigarraga
Publikováno v:
Children, Vol 8, Iss 11, p 1026 (2021)
Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement
Externí odkaz:
https://doaj.org/article/05147c9eb1a64757918d5361ca6ff5e4
Autor:
Sonia Pajares, Angela Arias, Judit García-Villoria, Judit Macías-Vidal, Emilio Ros, Javier de las Heras, Marisa Girós, Maria J. Coll, Antonia Ribes
Publikováno v:
Journal of Lipid Research, Vol 56, Iss 10, Pp 1926-1935 (2015)
Niemann-Pick type C (NPC) is a progressive neurodegenerative disease characterized by lysosomal/endosomal accumulation of unesterified cholesterol and glycolipids. Recent studies have shown that plasma cholestane-3β,5α,6β-triol (CT) and 7-ketochol
Externí odkaz:
https://doaj.org/article/593f29b624054999819c020f5701bb71
Autor:
Virginia Gutiérrez-de-Juan, Sergio López de Davalillo, David Fernández-Ramos, Lucía Barbier-Torres, Imanol Zubiete-Franco, Pablo Fernández-Tussy, Jorge Simon, Fernando Lopitz-Otsoa, Javier de Las Heras, Paula Iruzubieta, María Teresa Arias-Loste, Erica Villa, Javier Crespo, Raúl Andrade, M Isabel Lucena, Marta Varela-Rey, Shelly C Lu, José M Mato, Teresa Cardoso Delgado, María-Luz Martínez-Chantar
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0173914 (2017)
Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia and a common event in acute liver injury/failure and chronic liver disease. Even though hepatic ammonia levels are potential predictive factors of patient outcome, ea
Externí odkaz:
https://doaj.org/article/83d1622f9693476c9eb65c8ae359b8bc
Autor:
Javier de las Heras Calvo
Publikováno v:
Revista Complutense de Educación, Vol 24, Iss 2 (2013)
Externí odkaz:
https://doaj.org/article/d02cb45ca4f24eee86fc58570b6e06d2
Autor:
Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Cañedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, María Luz Couce, Dolores García-Arenas, Igor Gómez, Tomás Hernández, Elsa Izquierdo-García, Dámaris Martínez Chicano, Montserrat Morales, Consuelo Pedrón-Giner, Estrella Petrina Jáuregui, Luis Peña-Quintana, Paula Sánchez-Pintos, Juliana Serrano-Nieto, María Unceta Suarez, Isidro Vitoria Miñana, Javier de las Heras
Publikováno v:
EUROPEAN JOURNAL OF CLINICAL NUTRITION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Background Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e495deb544841199e95e7054978f192
https://pubmed.ncbi.nlm.nih.gov/35854131
https://pubmed.ncbi.nlm.nih.gov/35854131