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List of works by Xènia Ferrer-Cortès

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

scientific article published on 11 December 2015

Differential diagnosis of lipoic acid synthesis defects.

scientific article

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons

scientific article

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

scientific article

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

scientific article published on 20 November 2013

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

scientific article published on 22 November 2012

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