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Farber's disease. | LitMetric

Farber's disease.

Indian Pediatr

C-11/58, PTS, NTPC Jyotinagar, Dist. Karimnagar 505 215, Andhra Pradesh, India.

Published: May 2002

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Farber disease (FD) is an ultrarare, autosomal-recessive, lysosomal storage disorder attributed to gene mutations. FD is characterized by acid ceramidase (ACDase) deficiency and the accumulation of ceramide in various tissues. Classical FD patients typically manifest symptoms including lipogranulomatosis, respiratory complications, and neurological deficits, often leading to mortality during infancy.

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