NGS for Metabolic Disease Diagnosis

מאת Yubero, Dèlia, Artuch, Rafael
הוצא לאור ב EJIFCC (2018)

The Value of Coenzyme Q(10) Determination in Mitochondrial Patients

מאת Yubero, Delia, Allen, George, Artuch, Rafael, Montero, Raquel
הוצא לאור ב J Clin Med (2017)

Coenzyme Q(10) Deficiencies in Neuromuscular Diseases

מאת Artuch, Rafael, Salviati, Leonardo, Jackson, Sandra, Hirano, Michio, Navas, Plácido
יצא לאור 2009

Dyskinesias as a limiting factor in the treatment of Segawa disease

מאת López-Laso, Eduardo, Beyer, Katrin, Opladen, Thomas, Artuch, Rafael, Saunders-Pullman, Rachel
יצא לאור 2012

Glycine and l-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients

מאת Villar, Cristina, Campistol, Jaume, Fons, Carmen, Armstrong, Judith, Mas, Anna, Ormazabal, Aida, Artuch, Rafael
יצא לאור 2011

Biochemical Diagnosis of Coenzyme Q(10) Deficiency

מאת Yubero, Delia, Montero, Raquel, Artuch, Rafael, Land, John M., Heales, Simon J.R., Hargreaves, Iain P.
יצא לאור 2014

Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes

מאת Molero-Luis, Marta, Fernández-Ureña, Sergio, Jordán, Iolanda, Serrano, Mercedes, Ormazábal, Aida, Garcia-Cazorla, Àngels, Artuch, Rafael
יצא לאור 2013

A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations

מאת Pintó, Xavier, Vilaseca, M. Antonia, Balcells, Susana, Artuch, Rafael, Corbella, Emili, Meco, José F., Vila, Ramon, Pujol, Ramon, Grinberg, Daniel
יצא לאור 2005

Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

מאת Bodoy, Susanna, Sotillo, Fernando, Espino-Guarch, Meritxell, Sperandeo, Maria Pia, Ormazabal, Aida, Zorzano, Antonio, Sebastio, Gianfranco, Artuch, Rafael, Palacín, Manuel
הוצא לאור ב Int J Mol Sci (2019)

White matter microstructural damage in early treated phenylketonuric patients

מאת González, María Julieta, Polo, Mónica Rebollo, Ripollés, Pablo, Gassió, Rosa, Ormazabal, Aída, Sierra, Cristina, Roura, Roser Colomé, Artuch, Rafael, Campistol, Jaume
הוצא לאור ב Orphanet J Rare Dis (2018)

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

מאת Calpena, Eduardo, Casado, Mercedes, Martínez-Rubio, Dolores, Nascimento, Andrés, Colomer, Jaume, Gargallo, Eva, García-Cazorla, Angels, Palau, Francesc, Artuch, Rafael, Espinós, Carmen
יצא לאור 2012

Thiamine transporter-2 deficiency: outcome and treatment monitoring

מאת Ortigoza-Escobar, Juan Darío, Serrano, Mercedes, Molero, Marta, Oyarzabal, Alfonso, Rebollo, Mónica, Muchart, Jordi, Artuch, Rafael, Rodríguez-Pombo, Pilar, Pérez-Dueñas, Belén
יצא לאור 2014

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

מאת Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith
הוצא לאור ב PLoS One (2016)

cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

מאת Palanca, Daniel, Garcia-Cazorla, Angels, Ortiz, Jessica, Jou, Cristina, Cusí, Victoria, Suñol, Mariona, Toll, Teresa, Perez, Belén, Ormazabal, Aida, Fowler, Brian, Artuch, Rafael
יצא לאור 2012

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1

מאת van Kuilenburg, André B. P., Meijer, Judith, Meinsma, Rutger, Pérez-Dueñas, Belén, Alders, Marielle, Bhuiyan, Zahurul A., Artuch, Rafael, Hennekam, Raoul C. M.
הוצא לאור ב JIMD Rep (2018)

Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains

מאת Alonso, Antonia, Merchán, Paloma, Sandoval, Juan E., Sánchez-Arrones, Luisa, Garcia-Cazorla, Angels, Artuch, Rafael, Ferrán, José L., Martínez-de-la-Torre, Margaret, Puelles, Luis
יצא לאור 2012

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

מאת Habbane, Mouna, Llobet, Laura, Bayona-Bafaluy, M. Pilar, Bárcena, José E., Ceberio, Leticia, Gómez-Díaz, Covadonga, Gort, Laura, Artuch, Rafael, Montoya, Julio, Ruiz-Pesini, Eduardo
הוצא לאור ב Genes (Basel) (2020)

Coenzyme Q(10) Treatment Monitoring in Different Human Biological Samples

מאת Paredes-Fuentes, Abraham J., Montero, Raquel, Codina, Anna, Jou, Cristina, Fernández, Guerau, Maynou, Joan, Santos-Ocaña, Carlos, Riera, Joan, Navas, Plácido, Drobnic, Franchek, Artuch, Rafael
הוצא לאור ב Antioxidants (Basel) (2020)

Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids

מאת Vilches, Clara, Boiadjieva-Knöpfel, Emilia, Bodoy, Susanna, Camargo, Simone, López de Heredia, Miguel, Prat, Esther, Ormazabal, Aida, Artuch, Rafael, Zorzano, Antonio, Verrey, François, Nunes, Virginia, Palacín, Manuel
הוצא לאור ב J Am Soc Nephrol (2018)

Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins

מאת Batllori, Marta, Casado, Mercedes, Sierra, Cristina, Salgado, Maria del Carmen, Marti-Sanchez, Laura, Maynou, Joan, Fernandez, Guerau, Garcia-Cazorla, Angels, Ormazabal, Aida, Molero-Luis, Marta, Artuch, Rafael
הוצא לאור ב Fluids Barriers CNS (2019)