| Literature DB >> 932904 |
J T Dulaney, A Milunsky, J B Sidbury, N Hobolth, H W Moser.
Abstract
The enzyme defect in Farber disease, a deficiency of acid ceramidase, has been demonstrated in cultured skin fibroblasts, which provides a means of confirming the diagnosis during life. The assay can also be performed using cultured amniotic fluid cells and is a potential tool for detection of carriers of the disease.Entities:
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Year: 1976 PMID： 932904 DOI： 10.1016/s0022-3476(76)80927-4
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406