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
Allogeneic hematopoietic cell transplantation in Farber disease.
Ehlert K et al.
Journal of Inherited Metabolic Disease, 2019
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS et al.
Orphanet Journal of Rare Diseases, 2018
Select a paper to view details