Title : ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.

Pub. Date : 2020 Dec

PMID : 32875576






2 Functional Relationships(s)
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1 Both total C26-Ceramide and its trans- isomer showed 100% sensitivity for the detection of ASAH1-related disorders in tested patients. c26-ceramide N-acylsphingosine amidohydrolase 1 Homo sapiens
2 We expanded the phenotypic spectrum of ASAH1-related disorders and validated the biomarker C26-Ceramide for supporting diagnosis in symptomatic patients. c26-ceramide N-acylsphingosine amidohydrolase 1 Homo sapiens