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Science. 1972 Dec 8;178(4065):1100-2.

Ceramidase deficiency in Farber's disease (lipogranulomatosis).

Abstract

Ceramidase activity could not be demonstrated in the kidney and cerebellum from a deceased patient with Farber's disease, whereas the activities of six control acid hydrolase enzymes appeared normal. This enzyme defect presumably accounts for the accumulation that has been described in two patients and may represent the biochemical basis of this disorder.

PMID:
4678225
[Indexed for MEDLINE]
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