Belén Pérez

22PUBLICATIONS
73CO-AUTHORS
Social program evaluationMetabolic medicineNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Medical genetics (excl. cancer genetics)
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Journal

Publications (22)

|Aug 26, 2026
The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening.

|Aug 13, 2026
Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

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

|Jan 26, 2026
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.

Alejandro Soriano-Sexto, Obdulia Sánchez-Lijarcio, Leonardo Beccari

|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

|Dec 11, 2024
Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.

Juan Ramón Tejedor, Alejandro Soriano-Sexto, Leonardo Beccari

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Frequent Collaborators

5 joint publications

Raquel Yahyaoui

4 joint publications

Maria-Luz Couce

4 joint publications

Pilar Quijada-Fraile

4 joint publications

Diana Gallego