Article
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Clinical genetics - 1 Dec 2020
Mahmoud Iman G, Elmonem Mohamed A, Zaki Maha S, Ramadan Areef, Al-Menabawy Nihal M, El-Gamal Aya, Mansour Lobna, Issa Mahmoud Y, Abdel-Hamid Mohamed S, Abdel-Hady Sawsan, Khalifa Iman, Ibrahim Ahmed, Solyom Alexander, Rolfs Arndt, Selim Laila
Abstract excerpt
Acid ceramidase deficiency is an orphan lysosomal disorder caused by ASAH1 pathogenic variants and presenting with either Farber disease or spinal muscle atrophy with progressive myoclonic epilepsy (SMA-PME). Phenotypic and genotypic features are rarely explored beyond the scope of case reports. Furthermore, the new biomarker C26-Ceramide requires validation in a clinical setting. We evaluated the clinical,...
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