Núria Bujan - Concepedia

Author

Núria Bujan

Centre for Biomedical Network Research on Rare Diseases

Also Known As

N Buján, N. Buján, Nuria Bujan, Nuria Buján, Núria Bujan

Publications

289

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Consejo Superior de Investigaciones Científicas Hospital Sant Joan de Déu Barcelona Instituto de Investigación de Enfermedades Raras Universidad de Zaragoza

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	217
2	Natural Sciences	4	4	181
3	Biochemistry	2	2	103
4	Biology	1	1	24
5	Immunology	1	1	19

Núria Bujan

Publications

280

Citations

H-Index

Page 1

	Year	Citations
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, Human Molecular Genetics Genetics2-Ketoacid Dehydrogenase ComplexesMolecular BiologyCofactor DisordersMolecular Genetics	2013	84
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes Raquel Montero, Manuela Grazina, Ester López‐Gallardo, Mitochondrion Mitochondrial FunctionGenetic DisorderNatural SciencesGeneticsDna Replication	2013	54
Protein expression profiles in patients carrying <i>NFU1</i> mutations. Contribution to the pathophysiology of the disease Xènia Ferrer-Cortés, Aida Font, Núria Bujan, Journal of Inherited Metabolic Disease	2012	33
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, Journal of Inherited Metabolic Disease	2013	30
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, Neurogenetics BiologyMendelian DisorderMitochondrial BiogenesisMitochondrial FunctionGenetic Disorder	2012	24
Analysis of coenzyme Q10 in lymphocytes by HPLC–MS/MS Ángela Arias, Judit García‐Villoria, Ana I. Rojo, Journal of Chromatography B Coenzyme Q10BiochemistryLaboratory ImmunologyBioanalysisImmunology	2012	19
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis Xènia Ferrer-Cortés, Juan Narbona, Núria Bujan, Mitochondrion Transcriptional RegulationGenome InstabilityGenetic DisorderMedicineGenetics	2015	19
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria Frederic Tort, Mireia del Toro, Willy Lissens, Clinical Genetics GeneticsPathologyMolecular BiologyMolecular GeneticsDisease Gene Identification	2011	17

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