TY  - JOUR
T1  - Farber's disease (lysosomal acid ceramidase deficiency).
A1  - Jameson, R A
LA  - English
YR  - 1987
UL  - http://buscaintegrada.pucsp.br/vufind/Record/pubmed-1002193
AB  - 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.
KW  - Research Article
ER  -