Pilar Quijada‐Fraile

Author

Hospital Universitario 12 De Octubre ORCID

Also Known As

P Quijada-Fraile, P. Quijada-Fraile, P. Quijada‐Fraile, PIlar Quijada-Fraile, Pilar Quijada Fraile, Pilar Quijada-Fraile, Pilar Quijada‐Fraile

Publications

550

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario 12 De Octubre Centre for Biomedical Network Research on Rare Diseases Centro de Investigación Biomédica en Red Universidad Autónoma de Madrid Hospital Universitario Ramón y Cajal

About

Pilar Quijada‐Fraile is an author at Hospital Universitario 12 De Octubre specializing in genetics, medicine, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	168
2	Engineering	1	1	11
3	Natural Sciences	1	1	54
4	Public Health	1	1	28
5	Metabolism	1	1	28

Pilar Quijada‐Fraile

Publications

444

Citations

H-Index

Page 1

	Year	Citations
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations Irit Hochberg, Leigh Demain, Julie Richer, The American Journal of Human Genetics GeneticsMolecular BiologyPathologyMolecular GeneticsDisease Gene Identification	2021	54
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases Elena Martín‐Hernández, Luis Aldámiz‐Echevarría, E. Castejón-Ponce, Orphanet Journal of Rare Diseases	2014	49
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome Pilar Quijada‐Fraile, Mar O’Callaghan, Elena Martín‐Hernández, Orphanet Journal of Rare Diseases	2014	46
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy Elena Martín‐Hernández, María Elena Rodríguez‐García, Ana Camacho, Neurogenetics Mendelian DisorderNovel SyndromeOphthalmologyGenetic DisorderGenetics	2016	44
Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature Isidro Vitoria, Elena Martín‐Hernández, Luis Peña Quintana, JIMD Reports	2014	42
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome Henry Rivera, Elena Martín‐Hernández, Aitor Delmiro, BMC Nephrology	2013	34
Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers B. Merinero, Patricia Alcaide, Elena Martín‐Hernández, JIMD Reports	2017	32
Whole-Exome Sequencing Identifies a Variant of the Mitochondrial<i>MT-ND1</i>Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome Aitor Delmiro, Henry Rivera, María Teresa García‐Silva, Human Mutation GeneticsWest SyndromeGenetic EpidemiologyPathologyWest Syndrome Evolving	2013	31
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program Rosa Navarrete, Fátima Leal, Ana Vega, European Journal of Human Genetics Genetic AnalysisGenetic TestingNewborn ScreeningInborn ErrorsGenetics	2019	28
Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment Irene Bravo‐Alonso, Rosa Navarrete, Ana Vega, Journal of Clinical Medicine	2019	18

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