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Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   FALL 2012 , Volume 6 , Number 4 (SUPPL 1); Page(s) 3 To 4.
 
Paper: 

APPROACH TO LYSOSOMAL DISORDERS

 
 
Author(s):  ZAMANI GHOLAMREZA*
 
* CHILDREN’S MEDICAL CENTER, TEHRAN UNIVERSITY OF MEDICAL SCIENCES (TUMS), TEHRAN, IRAN
 
Abstract: 

Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders caused by the malfunction of lysosomal enzymes. If untreated, will result in death within several years.
At least 50 distinct genetic diseases are known, each one resulting from a deficiency of a particular lysosomal protein/activity or, in a few, from non lysosomal activities that are involved in lysosomal biogenesis. Mutations in the gene encoding for specific enzymes is the basis of the LSDs, which are mostly inherited in an autosomal recessive fashion.

 
Keyword(s): LYSOSOMAL DISORDERS, DIAGNOSIS, APPROACH
 
References: 
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