Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project

[1]  S. Revel-Vilk,et al.  Real-Life Experience with Oral Eliglustat in Patients with Gaucher Disease Previously Treated with Enzyme Replacement Therapy , 2022, Journal of clinical medicine.

[2]  T. Stulnig.  Long-term eliglustat treatment of Gaucher patients over up to 10 years in Vienna , 2022, Wiener klinische Wochenschrift.

[3]  M. Andrade-Campos,et al.  Recommendations on the follow‐up of patients with Gaucher disease in Spain: Results from a Delphi survey , 2022, JIMD reports.

[4]  L. Longworth,et al.  Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials , 2022, Orphanet Journal of Rare Diseases.

[5]  Haiqun Lin,et al.  Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease , 2021, Molecular genetics and metabolism reports.

[6]  C. Lahoz,et al.  Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients. , 2020, Medicina clinica.

[7]  J. Charrow,et al.  Real‐world effectiveness of eliglustat in treatment‐naïve and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry , 2020, American journal of hematology.

[8]  P. Giraldo,et al.  LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population , 2020, Clinical chemistry and laboratory medicine.

[9]  Andrew W Lischuk,et al.  Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease. , 2019, Molecular genetics and metabolism.

[10]  L. Poll,et al.  Gaucher Disease in Bone: From Pathophysiology to Practice , 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[11]  P. Giraldo,et al.  Biomarker combination is necessary for the assessment of Gaucher disease? , 2018, Annals of translational medicine.

[12]  M. Foster,et al.  Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial , 2018, American journal of hematology.

[13]  R. Saunders-Pullman,et al.  Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease , 2018, EBioMedicine.

[14]  T. Lefèbvre,et al.  Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease , 2018, Haematologica.

[15]  S. Eichler,et al.  Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials. , 2017, Molecular genetics and metabolism.

[16]  J. Armstrong,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 , 2017, Orphanet Journal of Rare Diseases.

[17]  M. Pedroso,et al.  Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy. , 2017, Blood.

[18]  A. Hamed,et al.  Gaucher disease epidemiology and natural history: a comprehensive review of the literature , 2017, Hematology.

[19]  J. Stirnemann,et al.  A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments , 2017, International journal of molecular sciences.

[20]  L. Croal,et al.  Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial , 2016, Molecular genetics and metabolism reports.

[21]  H. Ida,et al.  Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry , 2015, American journal of hematology.

[22]  I. de Blas,et al.  The Influence of Genetic Variability and Proinflammatory Status on the Development of Bone Disease in Patients with Gaucher Disease , 2015, PloS one.

[23]  S. Packman,et al.  Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. , 2015, JAMA.

[24]  S. Kreiner,et al.  Serum YKL-40: a new independent prognostic marker for skeletal complications in patients with multiple myeloma , 2015, Leukemia & lymphoma.

[25]  M. Andrade-Campos,et al.  Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease. , 2014, Blood cells, molecules & diseases.

[26]  H. Baris,et al.  Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. , 2014, Pediatric endocrinology reviews : PER.

[27]  C. Henkel,et al.  Proteomic profiling in Lipocalin 2 deficient mice under normal and inflammatory conditions. , 2013, Journal of proteomics.

[28]  M. V. van Breemen,et al.  Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. , 2011, Blood.

[29]  R. Weiskirchen,et al.  Induction of lipocalin‐2 expression in acute and chronic experimental liver injury moderated by pro‐inflammatory cytokines interleukin‐1β through nuclear factor‐κB activation , 2011, Liver international : official journal of the International Association for the Study of the Liver.

[30]  Hongyu Zhao,et al.  Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage , 2010, Proceedings of the National Academy of Sciences.

[31]  A. Mehta.  Gaucher disease: unmet treatment needs , 2008, Acta paediatrica.

[32]  L. Melton,et al.  A reference standard for the description of osteoporosis. , 2008, Bone.

[33]  A. Gaedigk,et al.  The CYP2D6 Activity Score: Translating Genotype Information into a Qualitative Measure of Phenotype , 2008, Clinical pharmacology and therapeutics.

[34]  P. Alfonso,et al.  S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease. , 2007, European journal of radiology.

[35]  E. Høgdall,et al.  YKL-40 protein expression in normal adult human tissues – an immunohistochemical study , 2007, Journal of Molecular Histology.

[36]  Ramón Palop Baixauli.  El futuro del medicamento y el papel de la Agencia Española del Medicamento y Productos Sanitarios , 2004 .

[37]  H. Galjaard,et al.  Elevated plasma chitotriosidase activity in various lysosomal storage disorders , 1995, Journal of Inherited Metabolic Disease.

[38]  J Alonso,et al.  [The Spanish version of the SF-36 Health Survey (the SF-36 health questionnaire): an instrument for measuring clinical results]. , 1995, Medicina clinica.

[39]  C. Hollak,et al.  Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. , 1994, The Journal of clinical investigation.

[40]  H. Johnsen,et al.  the Nordic Myeloma Study Group , 2009 .

[41]  Boris Bleijlevens,et al.  Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. , 2004, Blood.