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

Sarah H Elsea, Alexander Solyom, Kirt Martin, Paul Harmatz, John Mitchell, Christina Lampe, Christina Grant, Laila Selim, Neslihan Oneli Mungan, Norberto Guelbert, Bo Magnusson, Erik Sundberg, Ratna Puri, Seema Kapoor, Nur Arslan, Maja Di Rocco, Maha Zaki, Seza Ozen, Iman G Mahmoud, Karoline EhlertAndreas Hahn, Gulden Gokcay, Marta Torcoletti, Carlos R Ferreira

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Medicine & Life Sciences