Farber disease was diagnosed in a patient with typical features and ceramide accumulation in lipogranulomatous nodules. [3H]Ceramide with high specific activity was prepared and used to confirm diagnosis in the patient after her death and for prenatal studies in this family. A micromethod was developed for ceramidase assay in chorionic villi.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/BF02436007 | DOI Listing |
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!