Concepedia

Aida Font

AF

6

Publications

437

Citations

6

H-Index

1999

Active since

Affiliations

Consejo Superior de Investigaciones Científicas(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Investigación de Enfermedades Raras

Hospital Sant Joan de Déu Barcelona

Instituto de Investigaciones Químicas y Ambientales de Barcelona

Aida Font is an author at Consejo Superior de Investigaciones Científicas specializing in urology, molecular diagnostics, and bioinformatics.

Top concepts

Publications per year

1999–2012

6

Publications

6

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

Aleix Navarro‐Sastre, Frederic Tort, Oliver Stehling et al. · The American Journal of Human Genetics · 2011 · 278 citations · Full text

Mapping the Gene Causing Hereditary Primary Hyperparathyroidism in a Portuguese Kindred to Chromosome 1q22-q31

Catherine Williamson, Branca Cavaco, A. Jauch et al. · Journal of Bone and Mineral Research · 1999 · 47 citations · Full text

Protein expression profiles in patients carrying <i>NFU1</i> mutations. Contribution to the pathophysiology of the disease

Xènia Ferrer-Cortés, Aida Font, Núria Bujan et al. · Journal of Inherited Metabolic Disease · 2012 · 33 citations

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

Ester Quintana, Merçè Pineda, Aida Font et al. · Journal of Inherited Metabolic Disease · 2010 · 32 citations

PDH E<sub>1</sub>β deficiency with novel mutations in two patients with Leigh syndrome

Ester Quintana, Johannes A. Mayr, M. T. García Silva et al. · Journal of Inherited Metabolic Disease · 2009 · 30 citations

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