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
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation.
Oguz Akarsu E et al.
Seizure, 2016
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