| Literature DB >> 3662645 |
R A Jameson1, P J Holt, J H Keen.
Abstract
The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.Entities:
Mesh：
Substances：
Year: 1987 PMID： 3662645 PMCID： PMC1002193 DOI： 10.1136/ard.46.7.559
Source DB: PubMed Journal: Ann Rheum Dis ISSN： 0003-4967 Impact factor: 19.103