Antonia Ribes

15PUBLICATIONS
72CO-AUTHORS
Medical biochemistry - amino acids and metabolitesSocial program evaluationInfant and child healthGene mappingGene expression (incl. microarray and other genome-wide approaches)
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Publications (15)

|Sep 20, 2026
A Variant in Abhydrolase Domain Containing 14A (ABHD14A) and the Suspicion of Aminoacylase 1 (ACY1) Deficiency.

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

|Jan 10, 2026
Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience.

Aida Deudero, Esther Lasheras, Roser Ventura

|Sep 04, 2024
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Agustin Hidalgo-Gutierrez, Jonathan Shintaku, Javier Ramon

|Dec 09, 2023
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report.

Adriana Pané, Marcos Carrasco-Serrano, Camila Milad

|Sep 18, 2023
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.

Gerard Muñoz-Pujol, Olatz Ugarteburu, Eulàlia Segur-Bailach

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Frequent Collaborators

6 joint publications

Judit García-Villoria

4 joint publications

Glòria Garrabou

3 joint publications

Gerard Muñoz-Pujol

3 joint publications

Laura Gort