ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

Citation:
Elsea, S. H., A. Solyom, Kirt Martin, P. Harmatz, J. Christina, L. Mitchell, C. Grant, and L. Selim, "ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy", Human mutation, vol. 40, issue 9, pp. 1469-1487, 2020.