Cristóbal Colón Mejeras

9PUBLICATIONS
30CO-AUTHORS
Social program evaluationPharmacogenomicsGene expression (incl. microarray and other genome-wide approaches)Medical biochemistry - lipidsMedical mycology
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Journal

Publications (9)

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

|Jul 15, 2026
A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

|Dec 30, 2025
Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease.

María Domínguez-Ruiz, Juan Luis Chico, Laura López-Marín

|Mar 27, 2025
Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.

Eines Monteagudo-Vilavedra, Daniel Rodrigues, Giorgia Vella

|Jan 08, 2025
Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).

Miloud Hammoud, María Domínguez-Ruiz, Imane Assiri

|Mar 28, 2024
Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions.

J Victor Álvarez, Susana B Bravo, María Pilar Chantada-Vázquez

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Frequent Collaborators

5 joint publications

Francisco J Otero-Espinar

5 joint publications

María Luz Couce

4 joint publications

Susana B Bravo

3 joint publications

Shunji Tomatsu