Article
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Human mutation - 1 Sept 2020
Elsea Sarah H, Solyom Alexander, Martin Kirt, Harmatz Paul, Mitchell John, Lampe Christina, Grant Christina, Selim Laila, Mungan Neslihan Oneli, Guelbert Norberto, Magnusson Bo, Sundberg Erik, Puri Ratna, Kapoor Seema, Arslan Nur, DiRocco Maja, Zaki Maha, Ozen Seza, Mahmoud Iman G, Ehlert Karoline, Hahn Andreas, Gokcay Gulden, Torcoletti Marta, Ferreira Carlos R
Abstract excerpt
Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy are a spectrum of rare lysosomal storage disorders characterized by acid ceramidase deficiency (ACD), resulting from pathogenic variants in N-acylsphingosine amidohydrolase 1 (ASAH1). Other than simple listings provided in literature reviews, a curated, comprehensive list of ASAH1 mutations associated with ACD clinical phenotypes has...
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