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

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

Citation:: Elsea1, S. H., A. Solyom2, K. Martin1, P. Harmatz3, J. Mitchell4, C. Lampe5, C. Grant6, L. Selim7, N. O. Mungan8, N. Guelbert9, et al., "ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy", Human mutation, vol. 2020;41, issue 2020;41, pp. 1469–1487, 2020.