Associated Papers
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
A novel mutation in an atypical presentation of the rare infantile Farber disease.
Al Jasmi F
Brain & Development, 2012
Population genetic analysis of the N-acylsphingosine amidohydrolase gene associated with mental activity in humans.
Kim HL et al.
Genetics, 2008
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