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Muranjan, M. and Agarwal, Shruti and Lahiri, Keya and Bashyam, M.D. (2012) Novel Biochemical Abnormalities and Genotype in Farber Disease. Indian Pediatrics, 49 (4). pp. 320-322. ISSN 0019-6061

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Farber disease caused by acid ceramidase deficiency is characterised by a triad of painful and swollen joints, subcutaneous nodules, and laryngeal involvement. A one year old female with overlapping features of the classical and type 5 variants is reported. Sialuria and elevated plasma chitotriosidase were unusual findings. A novel mutation of the ASAH 1 gene was detected from DNA extracted from the umbilical stump.

Item Type: Article
Additional Information: [Open Access from the Publisher]
Depositing User: Users 2 not found.
Date Deposited: 09 Sep 2015 08:16
Last Modified: 15 Sep 2017 06:39
URI: http://cdfd.sciencecentral.in/id/eprint/480

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