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
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
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
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
Abstract Book for the 27th Congress of the European Hematology Association [PDF]
Hemasphere, 2022 HemaSphere, Volume 6, Issue S3, Page 1-4130, June 2022.
europepmc +2 more sources
Abstract Book: 25th Congress of the European Hematology Association Virtual Edition, 2020 [PDF]
Hemasphere, 2020 HemaSphere, Volume 4, Issue S1, Page 1-1168, June 2020.
europepmc +2 more sources
Múltiples quistes parapiélicos en la enfermedad de Fabry
Nefrologia, 2016 La enfermedad de Fabry es una enfermedad de depósito lisosomal de carácter hereditario, ligada al cromosoma X, causado por el déficit de la enzima alfa-galactosidasa A (alfa-GLA A), lo que conduce a la acumulación de glicoesfingolípidos, principalmente ...
Xavier Serres-Créixams +1 more
exaly +3 more sources
Consenso mexicano sobre el diagnóstico de la deficiencia de lipasa ácida lisosomal
Revista De Gastroenterología De México, 2018 Introducción: La deficiencia de lipasa ácida lisosomal (DLAL) ocasiona el almacenamiento de ésteres de colesterol y triglicéridos en los lisosomas de los hepatocitos y células del sistema monocito-macrófago y, como consecuencia, produce una enfermedad ...
R. Vázquez-Frias +14 more
exaly +3 more sources
Enfermedad de Fabry en la óptica del nefrólogo
Interdisciplinary Journal of Epidemiology and Public Health, 2022 La enfermedad de Fabry es un trastorno hereditario de depósito lisosomal progresivo y multisistémico del catabolismo de los glicoesfingolípidos, ligado al cromosoma X, originando depósito intracelular de glicoesfingolipidos especialmente de globotriaosil-
Andres Felipe Mejia Cardona +2 more
doaj +1 more source
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 +3 more sources