Pilar Quijada-Fraile

6PUBLICATIONS
33CO-AUTHORS
Neurology and neuromuscular diseasesMedical genetics (excl. cancer genetics)Epigenetics (incl. genome methylation and epigenomics)Infant and child healthMedical biochemistry - amino acids and metabolites
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Publications (6)

|Jun 25, 2026
Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

|Apr 12, 2025
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Elena Martín-Hernández, Marcello Bellusci, Patricia Pérez-Mohand

|Nov 11, 2022
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal

|Jul 09, 2022
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.

Amaya Bélanger-Quintana, Francisco Arrieta Blanco, Delia Barrio-Carreras

|May 28, 2022
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.

Patricia Alcaide, Isaac Ferrer-López, Leticia Gutierrez

|Nov 04, 2021
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.

Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández

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Frequent Collaborators

4 joint publications

Sinziana Stanescu

4 joint publications

Belén Pérez

3 joint publications

Amaya Bélanger-Quintana

3 joint publications

Raquel Yahyaoui