Associated Papers
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.
Cuinat S et al.
Neurology. Genetics, 2025
Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
Lee BH et al.
American Journal of Medical Genetics. Part A, 2020
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