Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortagePilar 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...
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian PeninsulaPilar 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...
- [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...
- [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
....
- [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...
- 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...
[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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- [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
....
- 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...
- Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations
Pilar Alfonso
, Facultad de Ciencias, Universidad de Zaragoza, Plaza San Francisco s/n, 50009 Zaragoza, Spain
Blood Cells Mol Dis 35:268-76. 2005
....
- 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...
- 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...
- 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...
- 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...
