Author

Daniel Rodrigues

Institutions: Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Instituto de Investigación Sanitaria de Santiago

Observed institutions: Universidade de Santiago de Compostela, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Instituto de Investigación Sanitaria de Santiago

ORCID: 0000-0002-2934-1699

Observed ORCID: 0000-0002-2934-1699

OpenAlex ID: A5101052380

The LINCE Project: A Pathway for Diagnosing NCL2 Disease

2022 · Daniel Rodrigues, Maria José de Castro, et al. · Frontiers in Pediatrics · 6

Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II

2025 · Eines Monteagudo-Vilavedra, Daniel Rodrigues, et al. · International Journal of Molecular Sciences · 5

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS)

2024 · Miloud Hammoud, María Domínguez-Ruiz, et al. · Genes · 4

Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease

2025 · María Domínguez-Ruiz, Juan Luis Chico, et al. · Biomedicines

Works count: 4

Citation count: 15

H-index: 3

I10-index: