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	1.	Differential diagnosis of lipoic acid synthesis defects. [electronic resource] by Tort, Frederic Ferrer-Cortes, Xènia Ribes, Antonia Producer: 20171205 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons. [electronic resource] by Matalonga, Leslie Arias, Ángela Tort, Frederic Ferrer-Cortés, Xènia Garcia-Villoria, Judit Coll, Maria Josep Gort, Laura Ribes, Antonia Producer: 20160722 In: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease. [electronic resource] by Ferrer-Cortès, Xènia Font, Aida Bujan, Núria Navarro-Sastre, Aleix Matalonga, Leslie Arranz, José Antonio Riudor, Encarnació del Toro, Mireia Garcia-Cazorla, Angels Campistol, Jaume Briones, Paz Ribes, Antonia Tort, Frederic Producer: 20140519 In: Journal of inherited metabolic disease vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. [electronic resource] by Tort, Frederic García-Silva, María Teresa Ferrer-Cortès, Xènia Navarro-Sastre, Aleix Garcia-Villoria, Judith Coll, Maria Josep Vidal, Enrique Jiménez-Almazán, Jorge Dopazo, Joaquín Briones, Paz Elpeleg, Orly Ribes, Antonia Producer: 20140317 In: Molecular genetics and metabolism vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. [electronic resource] by Tort, Frederic Ferrer-Cortès, Xènia Thió, Marta Navarro-Sastre, Aleix Matalonga, Leslie Quintana, Ester Bujan, Núria Arias, Angela García-Villoria, Judit Acquaviva, Cecile Vianey-Saban, Christine Artuch, Rafael García-Cazorla, Àngels Briones, Paz Ribes, Antonia Producer: 20141126 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis. [electronic resource] by Ferrer-Cortès, Xènia Narbona, Juan Bujan, Núria Matalonga, Leslie Del Toro, Mireia Arranz, José Antonio Riudor, Encarnació Garcia-Cazorla, Angels Jou, Cristina O'Callaghan, Mar Pineda, Mercé Montero, Raquel Arias, Angela García-Villoria, Judit Alston, Charlotte L Taylor, Robert W Briones, Paz Ribes, Antonia Tort, Frederic Producer: 20161031 In: Mitochondrion vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. [electronic resource] by Tort, Frederic Ugarteburu, Olatz Texidó, Laura Gea-Sorlí, Sabrina García-Villoria, Judit Ferrer-Cortès, Xènia Arias, Ángela Matalonga, Leslie Gort, Laura Ferrer, Isidre Guitart-Mampel, Mariona Garrabou, Glòria Vaz, Frederick M Pristoupilova, Ana Rodríguez, María Isabel Esteban Beltran, Sergi Cardellach, Francesc Wanders, Ronald Ja Fillat, Cristina García-Silva, María Teresa Ribes, Antonia Producer: 20200309 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)