- Artículo
- Fuente: Campus Sanofi
- 7 abr 2025
Pósters presentados en el 21st WORLDSymposium
En esta edición, destacados expertos han compartido investigaciones innovadoras que abordan el diagnóstico, tratamiento y manejo de diversas enfermedades lisosomales.
Accede a los pósters clasificados por patologías y explora las videograbaciones de los autores, donde explican sus hallazgos más relevantes.
Gaucher y ASMD
Project for the education and diagnosis of Gaucher disease and acid sphingomyelinase deficiency (PREDIGA-2)
Clinical variability in Gaucher disease associated with the c.1880T>G (D409H) variant in GBA1
Efficacy of Eliglustat Administered With and Without Imiglucerase in Pediatric Participants With Gaucher Disease Type 1 or Type 3: The ELIKIDS Study
Predictive model for estimating the risk of bone mineral loss in Gaucher disease
Exploring the correlation between miRNA and osteonecrosis in Gaucher disease
Design of PROMs and PREMs questionnaire for ASMD care
Project for the education and diagnosis of Gaucher disease and acid sphingomyelinase deficiency (PREDIGA-2)
Clinical variability in Gaucher disease associated with the c.1880T>G (D409H) variant in GBA1
Efficacy of Eliglustat Administered With and Without Imiglucerase in Pediatric Participants With Gaucher Disease Type 1 or Type 3: The ELIKIDS Study
Predictive model for estimating the risk of bone mineral loss in Gaucher disease
Exploring the correlation between miRNA and osteonecrosis in Gaucher disease
Design of PROMs and PREMs questionnaire for ASMD care
Videograbaciones
Lisosomales
Lipid profiling in dried blood spots: A tool for diagnosing lysosomal storage disorders
Validation of "in silico" predictors for analyzing variants of uncertain significance in lysosomal storage disorders
Understanding the role of neutrophil extracellular traps in vascular complications of lysosomal disorders
Retrospective study to analyze and validate a set of potential predictive markers to identify lysosomal acid lipase deficiency
Evaluating lipocalin-2 as a biomarker for lysosomal acid lipase deficiency
Lipid profiling in dried blood spots: A tool for diagnosing lysosomal storage disorders
Validation of "in silico" predictors for analyzing variants of uncertain significance in lysosomal storage disorders
Understanding the role of neutrophil extracellular traps in vascular complications of lysosomal disorders
Retrospective study to analyze and validate a set of potential predictive markers to identify lysosomal acid lipase deficiency
Evaluating lipocalin-2 as a biomarker for lysosomal acid lipase deficiency
Videograbaciones
MPS
Long-term outcome of Mucopolysaccharidosis I-Hurler patients after hematopoietic cell transplantation
Oral therapy for lisosomal diseases
Long-term outcome of Mucopolysaccharidosis I-Hurler patients after hematopoietic cell transplantation
Oral therapy for lisosomal diseases
Videograbaciones
Neuromuscular
Successful desensitization protocol to alglucosidase and avalglucosidase alfa in a patient with infantile-onset Pompe disease
Reversible deficiencies of arylsulfatase B and alpha-galactosidase in Duchenne muscular dystrophy (DMD)
Successful desensitization protocol to alglucosidase and avalglucosidase alfa in a patient with infantile-onset Pompe disease
Reversible deficiencies of arylsulfatase B and alpha-galactosidase in Duchenne muscular dystrophy (DMD)
Videograbaciones
MAT-ES-2500712 V1 ABRIL 2025