fabry disease (a kind of lysosomal storage disease)
نویسندگان
چکیده
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.
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 کاملAnderson-Fabry disease and other lysosomal storage disorders.
Anderson-Fabry Disease and Other Lysosomal Storage Disorders Print ISSN: 0009-7322. Online ISSN: 1524-4539 Copyright © 2014 American Heart Association, Inc. All rights reserved. is published by the American Heart Association, 7272 Greenville Avenue, Dallas, TX 75231 Circulation doi: 10.1161/CIRCULATIONAHA.114.009789 2014;130:1081-1090 Circulation. http://circ.ahajournals.org/content/130/13/1081...
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 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 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 ۶-۰
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