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Acid Ceramidase Deficiency

26 Feb 2025

Abstract excerpt

Background and Objectives: variants. Patients present in early childhood with muscle weakness due to anterior horn degeneration and/or progressive drug-resistant myoclonic epilepsy. Death usually results from respiratory complications or status epilepticus during adolescence. Methods: assay, measuring the degradation rate of ceramides in living skin fibroblasts, was also performed in 2 patients. Finally, a...

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PMID: 40017560
DOI: 10.1212/nxg.0000000000200243

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