Jorge J. Cebolla
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 22 publications
Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.
Journal: Orphanet journal of rare diseases
Published: February 26, 2025
In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates.
Journal: International journal of molecular sciences
Published: September 02, 2024
Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients.
Journal: International journal of molecular sciences
Published: July 03, 2024
Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico.
Journal: Journal of clinical laboratory analysis
Published: January 10, 2024
Neonatal cholestasis and Niemann-pick type C disease: A literature review.
Journal: Clinics and research in hepatology and gastroenterology
Published: September 08, 2020
Serum protein profile analysis in lysosomal storage disorders patients.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 11, 2020
Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.
Journal: Orphanet journal of rare diseases
Published: July 10, 2020
A novel mutation in two spanish children with the Niemann Pick disease: Description of genotype, acid sphingomyelinase activity, phenotype and review
Journal: Anales de pediatria
Published: October 27, 2019
Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease.
Journal: Journal of orthopaedic surgery and research
Published: September 22, 2019
LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population.
Journal: Clinical chemistry and laboratory medicine
Published: September 08, 2019
New variants in Spanish Niemann-Pick type c disease patients.
Journal: Molecular biology reports
Published: August 27, 2019
Web-Based Bioinformatics Predictors: Recommendations to Assess Lysosomal Cholesterol Trafficking Diseases-Related Genes.
Journal: Methods of information in medicine
Published: July 06, 2019
Last Updated: 09/26/2026