Genomes and Genes


Pilar Giraldo



  1. Andrade Campos M, Montes Limón A, Soro Alcubierre G, Lievano P, López Gómez L, Baringo T, et al. Patients Older Than 65 Years With Non-Hodgkin Lymphoma Are Suitable for Treatment With (90)Yttrium-Ibritumumab Tiuxetan: A Single-Institution Experience. Clin Lymphoma Myeloma Leuk. 2015;15:464-71 pubmed publisher
    ..We observed a high response rate and prolonged PFS in patients with B-NHL, independent of patient age. Thus, consolidation RIT offers better outcomes with manageable toxicity. ..
  2. Giraldo P, Pérez López J, Núñez R, de la Puebla R, Luño E, Saura Grau S, et al. Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status. Blood Cells Mol Dis. 2016;56:23-30 pubmed publisher
    ..These data suggest that most Spanish GD1 patients have good control over hematological and visceral parameters, but there is a need to improve monitoring and treatment of GD-related bone disease. ..
  3. Belmatoug N, Di Rocco M, Fraga C, Giraldo P, Hughes D, Lukina E, et al. Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe. Eur J Intern Med. 2017;37:25-32 pubmed publisher
    ..Physicians will need to carefully assess individual Gaucher patients to determine their appropriateness for eliglustat therapy. The therapeutic response to eliglustat and use of concomitant medications will require long-term monitoring. ..
  4. Gervas Arruga J, Cebolla J, Irún P, Pérez López J, Plaza L, Roche J, et al. Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene. BMC Genet. 2015;16:109 pubmed publisher
    ..10C > T variant in the promoter affected a nuclear protein binding site. Thus, inheritance of the CIH caused an mRNA deregulation altering the GLA expression pattern, producing a tissue glycolipid storage. ..
  5. Biegstraaten M, Cox T, Belmatoug N, Berger M, Collin Histed T, Vom Dahl S, et al. Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease. Blood Cells Mol Dis. 2018;68:203-208 pubmed publisher
    ..When applying this set of goals in medical practice, the clinical status of the individual patient should be taken into account. ..
  6. Deegan P, Fernandez Sasso D, Giraldo P, Lau H, Panahloo Z, Zimran A. Treatment patterns from 647 patients with Gaucher disease: An analysis from the Gaucher Outcome Survey. Blood Cells Mol Dis. 2018;68:218-225 pubmed publisher
    ..This analysis provides a foundation upon which to examine real-life outcomes data from different treatment regimens globally. ..
  7. Andrade Campos M, Valero E, Roca M, Giraldo P. The utility of magnetic resonance imaging for bone involvement in Gaucher disease. Assessing more than bone crises. Blood Cells Mol Dis. 2018;68:126-134 pubmed publisher
    ..This work provides a new evaluation of MRI assessment in this complex rare disease. ..
  8. Giraldo P, Andrade Campos M, Alfonso P, Irún P, Atutxa K, Acedo A, et al. Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project. Blood Cells Mol Dis. 2018;68:173-179 pubmed publisher
    ..Overall, miglustat was effective as a long-term therapy in mild to moderate naïve and ERT stabilized patients. No unexpected safety signals were identified during 12-years follow-up. ..
  9. Andrade Campos M, Alfonso P, Irún P, Armstrong J, Calvo C, Dalmau J, et al. Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease. Orphanet J Rare Dis. 2017;12:84 pubmed publisher
    ..This is the largest pediatric cohort from a national registry. ..