Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients
Batllori, Marta, Molero-Luis, Marta, Arrabal, Luisa, Heras, Javier de Las, Fernandez-Ramos, Joaquín-Alejandro, Gutiérrez-Solana, Luis González, Ibáñez-Micó, Salvador, Domingo, Rosario, Campistol, Jaume, Ormazabal, Aida, Sedel, Frederic, Opladen, Thomas, Zouvelou, Basiliki, Pons, Roser, Garcia-Cazorla, Angels, Lopez-Laso, Eduardo, Artuch, Rafael
Published in Scientific reports (07.11.2017)
Published in Scientific reports (07.11.2017)
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Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency
Pajares, Sonia, Arias, Angela, García-Villoria, Judit, Macías-Vidal, Judit, Ros, Emilio, de las Heras, Javier, Girós, Marisa, Coll, Maria J., Ribes, Antonia
Published in Journal of lipid research (01.10.2015)
Published in Journal of lipid research (01.10.2015)
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Journal Article
Understanding gut-liver axis nitrogen metabolism in Fatty Liver Disease
Delgado, Teresa C, de Las Heras, Javier, Martínez-Chantar, María L
Published in Frontiers in endocrinology (Lausanne) (15.12.2022)
Published in Frontiers in endocrinology (Lausanne) (15.12.2022)
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The lipopolysaccharide-TLR4 axis regulates hepatic glutaminase 1 expression promoting liver ammonia build-up as steatotic liver disease progresses to steatohepatitis
Mercado-Gómez, Maria, Goikoetxea-Usandizaga, Naroa, Kerbert, Annarein J.C., Gracianteparaluceta, Leire Uraga, Serrano-Maciá, Marina, Lachiondo-Ortega, Sofia, Rodriguez-Agudo, Rubén, Gil-Pitarch, Clàudia, Simón, Jorge, González-Recio, Irene, Fondevila, Marcos F., Santamarina-Ojeda, Pablo, Fraga, Mario F., Nogueiras, Rubén, Heras, Javier de las, Jalan, Rajiv, Martínez-Chantar, María Luz, Delgado, Teresa C.
Published in Metabolism, clinical and experimental (01.09.2024)
Published in Metabolism, clinical and experimental (01.09.2024)
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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Bosman, Willem, Franken, Gijs A C, de Las Heras, Javier, Madariaga, Leire, Barakat, Tahsin Stefan, Oostenbrink, Rianne, van Slegtenhorst, Marjon, Perdomo-Ramírez, Ana, Claverie-Martín, Félix, van Eerde, Albertien M, Vargas-Poussou, Rosa, Dubourg, Laurence Derain, González-Recio, Irene, Martínez-Cruz, Luis Alfonso, de Baaij, Jeroen H F, Hoenderop, Joost G J
Published in Scientific reports (22.03.2024)
Published in Scientific reports (22.03.2024)
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Journal Article
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
de Castro, María José, Jones, Simon A, de Las Heras, Javier, Sánchez-Pintos, Paula, Couce, María L, Colón, Cristóbal, Crujeiras, Pablo, Unceta, María, Church, Heather, Brammeier, Kathryn, Yee, Wu Hoi, Cooper, James, López de Frutos, Laura, Serrano-Gonzalo, Irene, Camba, María José, White, Fiona J, Holmes, Victoria, Ghosh, Arunabha
Published in Orphanet journal of rare diseases (25.06.2024)
Published in Orphanet journal of rare diseases (25.06.2024)
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Journal Article
A morphological method for ammonia detection in liver
Gutiérrez-de-Juan, Virginia, López de Davalillo, Sergio, Fernández-Ramos, David, Barbier-Torres, Lucía, Zubiete-Franco, Imanol, Fernández-Tussy, Pablo, Simon, Jorge, Lopitz-Otsoa, Fernando, de Las Heras, Javier, Iruzubieta, Paula, Arias-Loste, María Teresa, Villa, Erica, Crespo, Javier, Andrade, Raúl, Lucena, M Isabel, Varela-Rey, Marta, Lu, Shelly C, Mato, José M, Delgado, Teresa Cardoso, Martínez-Chantar, María-Luz
Published in PloS one (20.03.2017)
Published in PloS one (20.03.2017)
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Journal Article
Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
Andrade, Fernando, Villate, Olatz, Couce, María L., Bueno, María A., Alcalde, Carlos, de las Heras, Javier, Ceberio, Leticia, Núñez-Marcos, Sergio, Nambo, Pablo Suárez, Aldámiz-Echevarría, Luis
Published in European journal of pediatrics (01.06.2019)
Published in European journal of pediatrics (01.06.2019)
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Journal Article
Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia
Andrade, Fernando, Cano, Ainara, Unceta Suarez, María, Arza, Arantza, Vinuesa, Ana, Ceberio, Leticia, López-Oslé, Nuria, de Frutos, Gorka, López-Oceja, Raquel, Aznal, Elena, González-Lamuño, Domingo, de las Heras, Javier
Published in Journal of clinical medicine (19.08.2021)
Published in Journal of clinical medicine (19.08.2021)
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Journal Article
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution
Torices, Leire, de las Heras, Javier, Arango-Lasprilla, Juan Carlos, Cortés, Jesús M., Nunes-Xavier, Caroline E., Pulido, Rafael
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Leigh syndrome associated with TRMU gene mutations
Sala-Coromina, Júlia, Miguel, Lucía Dougherty-de, de las Heras, Javier, Lasa-Aranzasti, Amaia, Garcia-Arumi, Elena, Carreño, Lidia, Arranz, Jose Antonio, Carnicer, Clara, Unceta-Suárez, María, Sanchez-Montañez, Angel, Gort, Laura, Tort, Frederic, del Toro, Mireia
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Aortic Customized Stent-Graft Treatment of Postnephrectomy Renal Pedicle Arteriovenous Fistula
Manresa-Manresa, Francisco, Sánchez-Rodríguez, José María, Nacarino-Mejías, Verónica, Peiró de Las Heras, Javier, Ponce-González, Juan Francisco
Published in Vascular and endovascular surgery (01.05.2017)
Published in Vascular and endovascular surgery (01.05.2017)
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Journal Article
Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
de las Heras, Javier, Cano, Ainara, Vinuesa, Ana, Montes, Marta, Unceta Suarez, María, Arza, Arantza, Jiménez, Saioa, Vera, Elena, del Hoyo, Marta, Gendive, Miriam, Aguirre, Lizar, Muñoz, Gisela, Fernández, Javier, Ruiz-Espinoza, Cynthia, Fernández, María Ángeles, Galdeano, José Miguel, Rodríguez, Irene, Román, Lourdes, Rodríguez-Serna, Amaya, Loureiro, Begoña, Astigarraga, Itziar
Published in Children (Basel) (09.11.2021)
Published in Children (Basel) (09.11.2021)
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Journal Article
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Martín-Hernández, Elena, Quijada-Fraile, Pilar, Correcher, Patricia, Meavilla, Silvia, Sánchez-Pintos, Paula, de Las Heras Montero, Javier, Blasco-Alonso, Javier, Dougherty, Lucy, Marquez, Ana, Peña-Quintana, Luis, Cañedo, Elvira, García-Jimenez, María Concepción, Moreno Lozano, Pedro Juan, Murray Hurtado, Mercedes, Camprodon Gómez, María, Barrio-Carreras, Delia, de Los Santos, Mariela, Del Toro, Mireia, Couce, María L, Vitoria Miñana, Isidro, Morales Conejo, Montserrat, Bellusci, Marcello
Published in Journal of clinical medicine (28.08.2022)
Published in Journal of clinical medicine (28.08.2022)
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Journal Article
Familial Hyperinsulinism-Hyperammonemia Syndrome in a Family with Seizures: Case Report
de las Heras, Javier, Garin, Intza, de Nanclares, Guiomar Perez, Aguayo, Anibal, Rica, Itxaso, Castao, Luis, Vela, Amaia
Published in Journal of Pediatric Endocrinology and Metabolism (01.08.2010)
Published in Journal of Pediatric Endocrinology and Metabolism (01.08.2010)
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Journal Article
Metabolomic Profiling of Fatty Acid and Amino Acid Metabolism in Youth With Obesity and Type 2 Diabetes: Evidence for enhanced mitochondrial oxidation
Mihalik, Stephanie J, Michaliszyn, Sara F, de las Heras, Javier, Bacha, Fida, Lee, SoJung, Chace, Donald H, DeJesus, Victor R, Vockley, Jerry, Arslanian, Silva A
Published in Diabetes care (01.03.2012)
Published in Diabetes care (01.03.2012)
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