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The reported 65 ASAH1 mutations by type for Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

(Source: Yu FP, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis 2018;13(1):121. Creative Commons Attribution 4.0 International License.

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