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3. Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease

4. Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease

5. Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency

9. Serum protein profile analysis in lysosomal storage disorders patients

10. LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population

11. New variants in Spanish Niemann–Pick type c disease patients

12. The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases

13. Neonatal cholestasis and Niemann-pick type C disease: A literature review

14. Serum protein electrophoresis pattern alterations on lipidoses patients

15. Impact of immunoparesis on Gaucher disease (GD): Results from a network relationship analysis of data at diagnosis of the patients included in the Spanish registry of GD

16. New variants in Spanish Niemann-Pick type c disease patients

17. Web-Based Bioinformatics Predictors: Recommendations to Assess Lysosomal Cholesterol Trafficking Diseases-Related Genes

18. Biomarker combination is necessary for the assessment of Gaucher disease?

19. TRAZELGA: Preliminary results of the Spanish prospective, multi-center follow-up study and immune activation markers in adult Gaucher disease patients treated with eliglustat

20. Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study

21. Prospective multi-center national study to standardize the follow-up of type 1 Gaucher disease patients treated with eliglustat under standard of care practice: TRAZELGA project

22. Assessment of plasma 7-ketocholesterol concentration, chitotriosidase activity and CCL18/PARC concentration in Spanish patients treated with human recombinant lisosomal acid lipase

23. Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C

24. Computational Analysis Model Applied to Spanish Gaucher Registry Data

25. Twenty-five years diagnosing Gaucher disease in Spain: What we have learned?

26. Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management

27. Prospective National-Base Multicenter Study to Standardize the Follow-up of Type 1Gaucher Disease Patients Treated with Eliglustat Under Standard of Care Practice. Trazelga Project

28. Twenty-Five Years Diagnosing Gaucher’s Disease in Spain, What We Have Learned?

29. Defective function of KCa3.1 channels in lysosomal disorders

32. Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene

33. Actualización en deficiencia de lipasa ácida lisosomal: diagnóstico, tratamiento y seguimiento de los pacientes

34. Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management

35. New haplotype of Fabry disease among patients screened for left ventricular hypertrophy of unknown cause

36. A clinical case with a new damaging variant associated to Niemann-Pick disease type C

37. Dried blood spot screening of lysosomal acid lipase deficiency and confirmatory studies in Spanish suspected patients

38. Evaluation of suspicion index and plasma biomarkers as efficient tool in the diagnosis of Νiemann-Ρick disease type C

39. Descriptive report of the variant adult visceral form non-neuronopathic of Νiemann-Ρick type C disease in a Spanish series

40. Complex intronic haplotype in Fabry disease

41. Experience with 7-ketocholesterol and ccl18/parc as surrogated biomarkers in a series of Spanish Niemann–Pick disease type C patients

42. X-Chromosome tissue inactivation in Fabry disease