lysosomal storage disease in iran (report of molecular study)
نویسندگان
چکیده
how to cite this article: houshmand m, tonekaboni sh, karimzadeh p, aryani o, ashrafimr, salehpour sh, badv sh, shakiba m, alaee mr, farshid sh. lysosomal storage disease iniran. (report of molecular study). iran j child neurol autumn 2012; 6:4 (suppl. 1): 22. 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
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 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 کاملMolecular Therapy for Lysosomal Storage Diseases
Lysosomes are organella involving the catabolism of biomolecules extracellularly and intra‐ cellularly incorporated, which contain more than 60 distinct acidic hydrolases (lysosomal enzymes) and their co-factors. Lysosomal storage diseases (LSDs) are caused by germ-line gene mutations encoding lysosomal enzymes, their activator proteins, integral membrane proteins, cholesterol transporters and ...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۶، شماره ۴، صفحات ۲۲-۰
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