Polyarticular arthritis as presenting feature of farber disease: a lysosomal storage disease involving inflammation
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چکیده
منابع مشابه
Polyarticular arthritis as presenting feature of farber disease: a lysosomal storage disease involving inflammation
Introduction Farber lipogranulomatosis (Farber Disease; FD) is an ultra-rare lysosomal storage disorder resulting from the inherited deficiency of the enzyme acid ceramidase, and the accumulation of the lipid substrate, ceramide. Ceramide is a pro-inflammatory and pro-apoptotic lipid that has been implicated in the pathogenesis of cartilage disorders. Farber Disease has a heterogeneous presenta...
متن کاملlysosomal storage disease (lsds)
how to cite this article: ghofrani m. lysosomal storage disease (lsds). iran j child neurol. 2015 autumn;9:4(suppl.1): 1. pls see pdf.
متن کاملlysosomal storage disease
how to cite this article: ghofrani m. lysosomal storage disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):1-2. for reading more pls see pdf
متن کاملfabry disease (a kind of lysosomal storage disease)
how to cite this article: karimzadeh p. fabery disease (a kind of lysosomal storage disease). iran j child neurol autumn 2012; 6:4(suppl. 1):6. pls see pdf.
متن کاملLysosomal storage disease.
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, flaccid neck and spasticity in all four limbs with hyper-reflexia. On fundus examination cherry red spots were noted at macula. On performing lysosomal enzyme assay, beta-galactosidase level was considerably low. This indicates...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2014
ISSN: 1546-0096
DOI: 10.1186/1546-0096-12-s1-p285