Pilar Quijada‐Fraile

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 et al. · The American Journal of Human Genetics · 2021 · 57 citations · Full text

Life Sciences, Genetics, Gene Expression +10

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

Elena Martín‐Hernández, Luis Aldámiz‐Echevarría, E. Castejón-Ponce et al. · Orphanet Journal of Rare Diseases · 2014 · 52 citations · Full text

Life Sciences, Nephrology, Pediatrics +15

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 et al. · Orphanet Journal of Rare Diseases · 2014 · 47 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

Isidro Vitoria, Elena Martín‐Hernández, Luis Peña Quintana et al. · JIMD Reports · 2014 · 45 citations

Life Sciences, Genetics, Pediatrics +15

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 et al. · Neurogenetics · 2016 · 44 citations

Life Sciences, Genetics, Molecular Genetics +15