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 with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants.
Yin X et al.
Heliyon, 2025
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Lee MM et al.
Annals of Clinical and Translational Neurology, 2022
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