Recommendations on the follow‐up of patients with Gaucher disease in Spain: Results from a Delphi survey [PDF]
JIMD Reports, 2023 Management of Gaucher disease (GD) is challenging due to its wide genotypic and phenotypic variability and changing clinical manifestations due to effective treatment.
Pilar Giraldo +3 more
doaj +3 more sources
Enfermedad de Gaucher: una enfermedad multisistémica
Galicia Clínica, 2021 La enfermedad de Gaucher es un trastorno autosómico recesivo raro debido a la ausencia de la enzima glucocerebrosidasa, produciéndose acumulación de glucocerebrósidos en el sistema retículo endotelial. Se manifiesta por hepatoesplenomegalia, alteraciones
Alberto Rivera Gallego +2 more
doaj +4 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
Revista de la Facultad de Medicina Humana, 2018 La enfermedad de Gaucher (EG), enfermedad autosómica recesiva, es la más frecuente del grupo de las enfermedades de depósito lisosomal. Los síntomas y signos son multisistémicos, se establecen de manera crónica y progresiva y se deben a la acumulación de
Magaly Mendoza-Quispe
doaj +4 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
21137. ENFERMEDAD DE GAUCHER: MANIFESTACIONES NEUROLÓGICAS A PROPÓSITO DE UN CASO
Neurology PerspectivesB. Villarrubia González +4 more
doaj +3 more sources