Lysosomal storage disorders (LSDs) are characterized by the accumulation of specific
disease substrates inside the lysosomes of various cells, eventually leading to the …

Los biomarcadores son una herramienta importante en el diagnóstico, seguimiento y
evaluación de la respuesta al tratamiento en pacientes con enfermedad de Gaucher (EG) …

Biomarkers are an important tool in the diagnosis, monitoring and evaluation of response to
treatment in patients with Gaucher disease (GD). The objective of this work is a descriptive …

The muscle physiology and cell biology is the heart of research activity at Institute Neuro-
Myogene. At Le Grand team, skeletal muscle regeneration and repair mechanisms are …

Gaucher disease is a rare autosomal recessive disorder of sphingolipid metabolism. β-
glucocerebrosidase deficiency results in accumulation of glucosylceramide in cells of the …