Belén Pérez

HIF1α Suppresses Tumor Cell Proliferation through Inhibition of Aspartate Biosynthesis.

T. Acker, J. Aragonés, A. S. Salinas-Sánchez, 2019, Cell reports.

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

Belén Pérez, P. Rodríguez-Pombo, P. Ruiz-Sala, 2022, Orphanet Journal of Rare Diseases.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

M. Ugarte, Belén Pérez, M. Martínez-Pardo Casanova, 2022, JIMD reports.

Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite

F. M. Jabato, Pedro Seoane, J. Perkins, 2021, Scientific Reports.

Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model

M. Stojiljkovic, S. Pavlovic, Belén Pérez, 2018, Biochemical Genetics.

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer

F. M. Jabato, J. Perkins, E. Rojano, 2021, Journal of personalized medicine.

A new metabolic disorder in human cationic amino acid transporter‐2 that mimics arginase 1 deficiency in newborn screening

C. Pérez-Cerdá, M. García-Martín, Enrique Rodríguez-García, 2019, Journal of inherited metabolic disease.

Identification of novel mutations in the PCCB gene in European propionic acidemia patients

C. Pérez-Cerdá, J. Sass, M. Ugarte, 1999, Human mutation.

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy

Mar Alvarez, E. Richard, Belén Pérez, 2023, International journal of molecular sciences.

Metabolic Serendipities of Expanded Newborn Screening

R. Yahyaoui, Belén Pérez, J. Blasco-Alonso, 2020, Genes.

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

S. Arold, R. Maroofian, H. Houlden, 2021, Brain : a journal of neurology.

Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis

F. Santos-Simarro, M. Saénz de Pipaón, Belén Pérez, 2022, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

HIF1α Suppresses Tumor Cell Proliferation through Inhibition of Aspartate Biosynthesis.

T. Acker, A. S. Salinas-Sánchez, J. M. Giménez-Bachs, 2019, Cell reports.