Belen Perez

Madrid, MD 28049, Spain

Last Updated: 09/26/2026

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Found 123 publications

The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening.

The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening.

Journal: International journal of neonatal screening

Published: May 15, 2026

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

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

Journal: International journal of neonatal screening

Published: February 02, 2026

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

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

Journal: Journal of inherited metabolic disease

Published: August 06, 2025

Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.

Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.

Journal: European journal of human genetics : EJHG

Published: July 16, 2025

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal: Journal of inherited metabolic disease

Published: June 24, 2025

Clinical characteristics and management of Spanish adult patients with phenylketonuria.

Clinical characteristics and management of Spanish adult patients with phenylketonuria.

Journal: Revista clinica espanola

Published: March 17, 2025

Unraveling the biological potential of skin fibroblast: responses to TNF-α, highlighting intracellular signaling pathways and secretome.

Unraveling the biological potential of skin fibroblast: responses to TNF-α, highlighting intracellular signaling pathways and secretome.

Journal: Immunology letters

Published: March 11, 2025

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

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

Journal: Nutrients

Published: March 06, 2025

Contilisant+Tubastatin A Hybrids: Polyfunctionalized Indole Derivatives as New HDAC Inhibitor-Based Multitarget Small Molecules with In Vitro and In Vivo Activity in Neurodegenerative Diseases.

Contilisant+Tubastatin A Hybrids: Polyfunctionalized Indole Derivatives as New HDAC Inhibitor-Based Multitarget Small Molecules with In Vitro and In Vivo Activity in Neurodegenerative Diseases.

Journal: Journal of medicinal chemistry

Published: September 10, 2024

Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.

Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.

Journal: Journal of inherited metabolic disease

Published: May 28, 2024

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.

Journal: Molecular genetics and metabolism

Published: April 27, 2024

HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation.

HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation.

Journal: Molecular genetics and metabolism

Published: February 19, 2024

Showing 1-12 of 123

Last Updated: 09/26/2026