Associated Papers
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH et al.
Human Mutation, 2020
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS et al.
Orphanet Journal of Rare Diseases, 2018
Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency.
Yu FPS et al.
Scientific Reports, 2018
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.
Cozma C et al.
Scientific Reports, 2017
Select a paper to view details