Pilar Giraldo

Summary

Publications

  1. doi request reprint Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage
    Pilar Giraldo
    Hematology Department, Hospital Universitario Miguel Servet, Zaragoza, Spain
    Blood Cells Mol Dis 46:115-8. 2011
  2. pmc Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
    Pilar Giraldo
    Centro de Investigación Biomédica en Red de Enfermedades Raras, Zaragoza, Spain
    Orphanet J Rare Dis 7:17. 2012
  3. doi request reprint [Current treatment for Gaucher's disease and new prospects]
    Pilar Giraldo
    Grupo de Estudio de Enfermedad de Gaucher y Neoplasias Hematológicas, Servicio de Hematologia, Hospital Universitario Miguel Servet, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto Aragones de Ciencias de la Salud, Zaragoza, Spain
    Med Clin (Barc) 137:50-4. 2011
  4. doi request reprint [Therapeutic targets in Gaucher's disease]
    Pilar Giraldo
    Grupo de Estudio de Enfermedad de Gaucher y Neoplasias Hematológicas, Servicio de Hematologia, Hospital Universitario Miguel Servet, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto Aragones de Ciencias de la Salud, Zaragoza, Spain
    Med Clin (Barc) 137:46-9. 2011
  5. doi request reprint [Guidelines for type 1 Gaucher's disease]
    Pilar Giraldo
    Grupo de Estudio de Enfermedad de Gaucher y Neoplasias Hematológicas, Servicio de Hematologia, Hospital Universitario Miguel Servet, Instituto Aragones de Ciencias de la Salud, Zaragoza, Spain
    Med Clin (Barc) 137:55-60. 2011
  6. doi request reprint Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?
    Pilar Giraldo
    Hematology Department, Miguel Servet University Hospital, Pº Isabel La Católica 1 3, 50009 Zaragoza, Spain
    J Inherit Metab Dis 34:781-7. 2011
  7. ncbi request reprint [Neurological manifestations in patients with Gaucher disease and in their relatives]
    Pilar Giraldo
    Servicio de Hematologia, Hospital Universitario Miguel Servet, Zaragoza, Espana
    Med Clin (Barc) 131:175-9. 2008
  8. pmc Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project
    Pilar Giraldo
    Haematology Department, Miguel Servet University Hospital, Zaragoza, Spain
    Haematologica 94:1771-5. 2009
  9. ncbi request reprint Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination
    Jose L Capablo
    Department of Neurology, Miguel Servet University Hospital, Zaragoza, Spain
    Epilepsia 48:1406-8. 2007
  10. doi request reprint Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease
    Pilar Alfonso
    Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, ISCIII, Zaragoza, Spain
    Clin Chim Acta 412:365-9. 2011

Collaborators

Detail Information

Publications21

  1. doi request reprint Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage
    Pilar Giraldo
    Hematology Department, Hospital Universitario Miguel Servet, Zaragoza, Spain
    Blood Cells Mol Dis 46:115-8. 2011
    ..Fourteen percent of patients had to switch to another therapy. No significant changes in blood counts, visceral volumes and CCL18/PARC concentration were observed...
  2. pmc Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
    Pilar Giraldo
    Centro de Investigación Biomédica en Red de Enfermedades Raras, Zaragoza, Spain
    Orphanet J Rare Dis 7:17. 2012
    ..Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics...
  3. doi request reprint [Current treatment for Gaucher's disease and new prospects]
    Pilar Giraldo
    Grupo de Estudio de Enfermedad de Gaucher y Neoplasias Hematológicas, Servicio de Hematologia, Hospital Universitario Miguel Servet, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto Aragones de Ciencias de la Salud, Zaragoza, Spain
    Med Clin (Barc) 137:50-4. 2011
    ..Taliglucerasa alpha, obtained from transfected plant cell cultures, is pending to approval...
  4. doi request reprint [Therapeutic targets in Gaucher's disease]
    Pilar Giraldo
    Grupo de Estudio de Enfermedad de Gaucher y Neoplasias Hematológicas, Servicio de Hematologia, Hospital Universitario Miguel Servet, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto Aragones de Ciencias de la Salud, Zaragoza, Spain
    Med Clin (Barc) 137:46-9. 2011
    ....
  5. doi request reprint [Guidelines for type 1 Gaucher's disease]
    Pilar Giraldo
    Grupo de Estudio de Enfermedad de Gaucher y Neoplasias Hematológicas, Servicio de Hematologia, Hospital Universitario Miguel Servet, Instituto Aragones de Ciencias de la Salud, Zaragoza, Spain
    Med Clin (Barc) 137:55-60. 2011
    ..Regular assessments are needed to establish the response and the degree of achievement of the therapeutic goals recommended through expert consensus...
  6. doi request reprint Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?
    Pilar Giraldo
    Hematology Department, Miguel Servet University Hospital, Pº Isabel La Católica 1 3, 50009 Zaragoza, Spain
    J Inherit Metab Dis 34:781-7. 2011
    ..PD was more frequent in carriers of L444P and other rare GBA mutations. Therefore, it is important to perform a systematic neurological exam in patients with type 1 GD and carriers with high risk mutations...
  7. ncbi request reprint [Neurological manifestations in patients with Gaucher disease and in their relatives]
    Pilar Giraldo
    Servicio de Hematologia, Hospital Universitario Miguel Servet, Zaragoza, Espana
    Med Clin (Barc) 131:175-9. 2008
    ..Previous reports indicate that GD relatives could develop neurological abnormalities more frequently than the general population. We aimed to know the presence of neurological symptoms (NS) in GD patients and their relatives...
  8. pmc Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project
    Pilar Giraldo
    Haematology Department, Miguel Servet University Hospital, Zaragoza, Spain
    Haematologica 94:1771-5. 2009
    ..In conclusion, miglustat is an effective therapy for the long-term maintenance of patients with Type 1 Gaucher disease previously stabilized with enzyme replacement therapy...
  9. ncbi request reprint Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination
    Jose L Capablo
    Department of Neurology, Miguel Servet University Hospital, Zaragoza, Spain
    Epilepsia 48:1406-8. 2007
    ..We present a report of a neuronopathic GD patient whose myoclonic epilepsy improved after combination therapy with imiglucerase and miglustat...
  10. doi request reprint Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease
    Pilar Alfonso
    Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, ISCIII, Zaragoza, Spain
    Clin Chim Acta 412:365-9. 2011
    ..We previously reported the c.(-203)A>G (g.1256A>G) variant in exon 1 of the GBA gene in Spanish GD patients...
  11. ncbi request reprint Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain
    Pilar Alfonso
    Departamento de Bioquimica y Biologia Molecular y Celular, Facultad Ciencias, Universidad de Zaragoza, Plaza San Francisco s n, 50009, Zaragoza, Spain
    J Hum Genet 52:391-6. 2007
    ..All of these findings indicate that there is a significant genotypic heterogeneity that explains the huge phenotypic variation among Spanish GD patients...
  12. doi request reprint Therapeutic strategies for Gaucher disease: miglustat (NB-DNJ) as a pharmacological chaperone for glucocerebrosidase and the different thermostability of velaglucerase alfa and imiglucerase
    Olga Abian
    Unidad de Investigación Traslacional, Miguel Servet Universitary Hospital, Zaragoza, Spain
    Mol Pharm 8:2390-7. 2011
    ..These results support the potential role of NB-DNJ as a pharmacological chaperone, susceptible of being part of pharmaceutical formulation or combination therapy for GD in the future...
  13. ncbi request reprint Short-term effect of miglustat in every day clinical use in treatment-naïve or previously treated patients with type 1 Gaucher's disease
    Pilar Giraldo
    Haematology Department, Miguel Servet University Hospital, Zaragoza, Spain
    Haematologica 91:703-6. 2006
    ..In the previously treated group, clinical and hematologic parameters and biomarkers were maintained/ improved at 12 months. Miglustat was well tolerated. The efficacy of miglustat treatment after 6 months was comparable to that of ERT...
  14. doi request reprint [Safety of use of velaglucerase in 2 patients with type 1 Gaucher's disease]
    Paz Latre
    Atención Primaria Delicias Norte, Fundación Española para el Estudio y Tratamiento de la Enfermedad de Gaucher, Zaragoza, Spain
    Med Clin (Barc) 137:39-42. 2011
    ....
  15. ncbi request reprint Transcriptional profiling of hematologic malignancies with a low-density DNA microarray
    Patricia Alvarez
    Departamento de Bioquimica y Biologia Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain
    Clin Chem 53:259-67. 2007
    ..High-density microarrays are powerful tools for expression analysis of thousands of genes simultaneously; however, experience with low-density microarrays in gene expression studies has been limited...
  16. ncbi request reprint Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations
    Pilar Alfonso
    Departamento de Bioquimica y Biologia Molecular y Celular, Facultad de Ciencias, Universidad de Zaragoza, Plaza San Francisco s n, 50009 Zaragoza, Spain
    Blood Cells Mol Dis 35:268-76. 2005
    ....
  17. doi request reprint Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity
    Pilar Alfonso
    Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Instituto de Salud Carlos III ISCIII, Valencia, Spain Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Zaragoza, Spain Instituto Aragonés de Ciencias de la Salud IACS, Zaragoza, Spain
    Hum Mutat 34:1396-403. 2013
    ..232_-241ins10;98+50G] haplotype, respectively). These data indicate that the c.-232_-241ins10 and c.98+50A>G variants are modifying factors of GD severity, which can partly explain the variability in severity of the disease. ..
  18. ncbi request reprint Identification of chitotriosidase isoforms in plasma of Gaucher disease patients by two dimensional gel electrophoresis
    Lucía Quintana
    Instituto Aragones de Ciencias de la Salud, Edificio CEA, Avda Gómez Laguna 25, 50009 Zaragoza
    Biochim Biophys Acta 1764:1292-8. 2006
    ..We also show the correlation between each ChT isoform and the plasma ChT enzymatic activity of the GD patients sampled in this study...
  19. doi request reprint Effect of phlebotomy on lipid metabolism in subjects with hereditary hemochromatosis
    Paola Casanova-Esteban
    Unidad de Lípidos and Laboratorio de Investigación Molecular, Hospital Universitario Miguel Servet, Instituto Aragones de Ciencias de la Salud I CS, 50009 Zaragoza, Spain
    Metabolism 60:830-4. 2011
    ..Our results suggest that therapeutic phlebotomy could be a useful therapeutic approach in patients with HTG and iron overload...
  20. ncbi request reprint Quality of life related to type 1 Gaucher disease: Spanish experience
    Pilar Giraldo
    Department of Hematology, Miguel Servet University Hospital, Zaragoza, Spain
    Qual Life Res 14:453-62. 2005
    ..The impact of type 1 Gaucher disease and its therapy on health-related quality of life (QOL) was investigated and the results were compared with a Spanish adult normative group...
  21. ncbi request reprint Insulin-like growth factors in childhood-onset Gaucher disease
    Segundo Rite
    Department of Paediatrics, Miguel Servet Hospital, Zaragoza, Spain
    Pediatr Res 52:109-12. 2002
    ..Total IGF-I and IGFBP-3 are the two parameters that better correlate with height before treatment. ERT results in significant increase of total IGF-I, free IGF-I, and IGFBP-3 during the first year of treatment...