Xènia Ferrer

Featured publications

• Differential diagnosis of lipoic acid synthesis defects

  Authors:

  Tort F; Ferrer-Cortes X; Ribes A ;

  Reference: Journal Of Inherited Metabolic Disease 2016.

• A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

  Authors:

  Ferrer-Cortes, Xenia; Narbona, Juan; Bujan, Nuria; Matalonga, Leslie; Del Toro, Mireia;

  (...)

  Alston, Charlotte L; Taylor, Robert W; Briones, Paz; Ribes, Antonia; Tort, Frederic.

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  Reference: Mitochondrion 2016.

• Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated ketoacid dehydrogenase complexes

  Authors:

  Tort, Frederic; Ferrer-Cortes, Xenia; Thio, Marta; Navarro-Sastre, Aleix; Matalonga, Leslie;

  (...)

  Vianey-Saban, Christine; Artuch, Rafael; Garcia-Cazorla, Angels; Briones, Paz; Ribes, Antonia.

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  Reference: Human Molecular Genetics 2014.

• Exome sequencing identifies a new mutation in SERAC1 in a patient with methylglutaconic aciduria

  Authors:

  Tort, Frederic; Garcia-Silva, Maria Teresa; Ferrer-Cortes, Xenia; Navarro-Sastre, Aleix; Garcia-Villoria, Judith;

  (...)

  Jimenez-Almazan, Jorge; Dopazo, Joaquin; Briones, Paz; Elpeleg, Orly; Ribes, Antonia.

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  Reference: Molecular Genetics And Metabolism 2013.

• Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

  Authors:

  Ferrer-Cortes, Xenia; Font, Aida; Bujan, Nuria; Navarro-Sastre, Aleix; Matalonga, Leslie;

  (...)

  Garcia-Cazorla, Angels; Campistol, Jaume; Briones, Paz; Ribes, Antonia; Tort, Frederic.

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  Reference: Journal Of Inherited Metabolic Disease 2013.