Hugo Rocha

10PUBLICATIONS
41CO-AUTHORS
Social program evaluationMetabolic medicineMedical molecular engineering of nucleic acids and proteinsRegenerative medicine (incl. stem cells)Infant and child health
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Publications (10)

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

|Jan 18, 2026
NMR-based urinary biomarkers in pediatric primary mitochondrial disorders and chronic kidney disease: shared mitochondrial dysfunction, diverging biosignatures.

Margarida Paiva Coelho, João E Rodrigues, Teresa Costa

|Feb 13, 2025
mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis.

Juliana Inês Santos, Mariana Gonçalves, Matilde Barbosa Almeida

|Mar 28, 2024
Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients.

Sofia Carvalho, Juliana Inês Santos, Luciana Moreira

|Mar 27, 2024
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa

|Jun 28, 2023
Cardiac Molecular Remodeling by Anticancer Drugs: Doxorubicin Affects More Metabolism While Mitoxantrone Impacts More Autophagy in Adult CD-1 Male Mice.

Sofia Reis Brandão, Ana Reis-Mendes, Margarida Duarte-Araújo

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Frequent Collaborators

3 joint publications

Laura Vilarinho

2 joint publications

Maria Francisca Coutinho

2 joint publications

Rita Ferreira

2 joint publications

Mariana Gonçalves