Associated Papers
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
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH et al.
Human Mutation, 2020
Allogeneic hematopoietic cell transplantation in Farber disease.
Ehlert K et al.
Journal of Inherited Metabolic Disease, 2019
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS et al.
Orphanet Journal of Rare Diseases, 2018
Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.
Axente M et al.
Journal of Medicine and Life, 0
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