Guía para diagnóstico y tratamiento de la Enfermedad de Gaucher [PDF]
Revista Médica Herediana, 2015 A este articulo no le corresponde Resumen.
Maria Colquicocha-Murillo +7 more
doaj +7 more sources
Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease [PDF]
Frontiers in Medicine, 2023 Gaucher disease (GD) is a genetic lysosomal disorder characterized by high bone marrow (BM) involvement and skeletal complications. The pathophysiology of these complications is not fully elucidated.
Esther Valero-Tena +9 more
doaj +2 more sources
Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project [PDF]
Orphanet Journal of Rare Diseases, 2023 Background The availability of multiple treatments for type 1 Gaucher disease increases the need for real-life studies to evaluate treatment efficacy and safety and provide clinicians with more information to choose the best personalized therapy for ...
Irene Serrano-Gonzalo +24 more
doaj +2 more sources
Validez de la prueba de actividad enzimática de la glucocerebrosidasa para el diagnóstico de enfermedad de Gaucher, revisión sistemática [PDF]
MedUNAB, 2017 Introducción: La enfermedad de Gaucher es un trastorno metabólico por deficiencia o ausencia de enzimaβ-Glucosidasa Ácida. El diagnóstico se sospecha clínicamente, pero requiere confirmación mediante medición, en leucocitos (estándar de oro) o en sangre ...
Vera-Cala, Lina María +4 more
doaj +4 more sources
Expression Profiles of Exosomal miRNAs in Gaucher Patients and Their Association With Severity of Bone Involvement [PDF]
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT Bone manifestations are one of the most prevalent complications in patients with Gaucher disease (GD). Bone involvement is evaluated by using imaging methods, and there are different scores to assess its severity. However, there are no biomarkers that allow us to predict these manifestations.
Irene Serrano‐Gonzalo +5 more
wiley +2 more sources
Neutrophil extracellular traps and macrophage activation contibute to thrombosis and post-covid syndrome in SARS-CoV-2 infection [PDF]
Frontiers in ImmunologyBackgroundSARS-CoV-2 infection activates macrophages and induces the release of neutrophil extracellular traps (NETs). Excess NETs is linked to inflammatory and thrombotic complications observed in COVID-19.AimTo explore the impact of NETs and macrophage
Irene Serrano-Gonzalo +24 more
doaj +2 more sources
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease [PDF]
Molecular Genetics and Metabolism Reports, 2021 Gaucher disease is renowned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG ...
Guillermo I. Drelichman +11 more
doaj +2 more sources
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study [PDF]
Biomedicines, 2023 This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses.
Sinziana Stanescu +14 more
doaj +2 more sources
Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed.
Marcio M. Andrade-Campos +9 more
doaj +2 more sources
Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease [PDF]
Journal of Orthopaedic Surgery and Research, 2019 Background Chronic fatigue (CFg) is a prevalent symptom in Gaucher disease (GD) at diagnosis (79%) and remains in a quarter of patients after years of therapy.
Mercedes Roca-Espiau +6 more
doaj +2 more sources