lysosomal storage disease
نویسندگان
چکیده
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
منابع مشابه
lysosomal 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.
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...
متن کاملLysosomal Storage Disease: Revealing Lysosomal Function
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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: revealing lysosomal function and physiology.
The discovery over five decades ago of the lysosome, as a degradative organelle and its dysfunction in lysosomal storage disorder patients, was both insightful and simple in concept. Here, we review some of the history and pathophysiology of lysosomal storage disorders to show how they have impacted on our knowledge of lysosomal biology. Although a significant amount of information has been acc...
متن کاملWhat is a Lysosomal Storage disease?
ease. The underlying metabo lic defect i s deficiency of lysosomal enzyme cer amidetrihexosidase. The disease has multisystem i nvo lvement. Neur ol og ical man ifestations i ncl ude smal l-fiber po lyneuropathy man ifested as painful distal extr emities and anhidrosis. Fabry’s disease also presents with both s ma ll -v ess el a nd cor ti cal mu l ti pl e cerebral i nfarcts. Enzyme-replacement ...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۶، شماره ۴، صفحات ۱-۲
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