Concepedia

Núria Bujan

NB

8

Publications

280

Citations

8

H-Index

2011

Active since

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Consejo Superior de Investigaciones Científicas

Hospital Sant Joan de Déu Barcelona

Instituto de Investigación de Enfermedades Raras

Universidad de Zaragoza

Núria Bujan is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, genetics, and molecular biology.

Top concepts

Publications per year

2011–2015

8

Publications

8

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

Frederic Tort, Xènia Ferrer-Cortés, Marta Thió et al. · Human Molecular Genetics · 2013 · 84 citations · Full text

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Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

Raquel Montero, Manuela Grazina, Ester López‐Gallardo et al. · Mitochondrion · 2013 · 54 citations · Full text

, , +6

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

Characterization of CoQ<sub>10</sub> biosynthesis in fibroblasts of patients with primary and secondary CoQ<sub>10</sub> deficiency

Núria Bujan, Ángela Arias, Raquel Montero et al. · Journal of Inherited Metabolic Disease · 2013 · 30 citations

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset

María del Mar O’Callaghan, Sonia Emperador, Ester López‐Gallardo et al. · Neurogenetics · 2012 · 24 citations

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