First-trimester enzyme exclusion of farber disease using a micromethod with [3H]ceramide View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1995-09

AUTHORS

V. S. Akhunov, S. S. Gargaun, X. D. Krasnopolskaya

ABSTRACT

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. More... »

PAGES

616-619

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf02436007

DOI

http://dx.doi.org/10.1007/bf02436007

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1005994902

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8598643


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