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Acid Ceramidase Deficiency

open access: yes
Background and ObjectivesSpinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) due to acid ceramidase deficiency is a rare disorder, allelic with Farber disease, resulting from recessive ASAH1 variants. Patients present in early childhood with muscle weakness due to anterior horn degeneration and/or progressive drug-resistant myoclonic ...
Cuinat, Silvestre   +16 more
openaire   +1 more source

Acid ceramidase ASAH1 is a key regulator of epidermal ceramide levels and composition. [PDF]

open access: yesJ Biol Chem
Nobumoto W   +5 more
europepmc   +1 more source

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