Allogeneic hematopoietic cell transplantation in Farber disease

ConclusionAllogeneic HCT leads to complete and persistent resolution of the inflammatory aspects in FD patients. It appears to have no beneficial effect on progression of nervous system involvement. New mutations in the acid ceramidase gene were identified. A genotype/phenotype correlation could not be established.

http://link.springer.com/10.1007/s10545-018-0171-6

Source: Journal of Inherited Metabolic Disease - March 29, 2018 Category: Internal Medicine Source Type: research