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
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
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS et al.
Orphanet Journal of Rare Diseases, 2018
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.
Bashyam MD et al.
Clinical Genetics, 2014
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene.
Alves MQ et al.
Molecular Genetics and Metabolism, 2013
Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
Bär J et al.
Human Mutation, 2001
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