Paper Information

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

FABRY DISEASE (A KIND OF LYSOSOMAL STORAGE DISEASE)

 
 
Author(s):  KARIMZADEH PARVANEH*
 
* MOFID CHILDREN HOSPITAL, SHARIATI AVE, TEHRAN, IRAN
 
Abstract: 

Fabry disease is an X-linked disorder. This condition is an inherited disorder that begins in childhood, causes signs and symptoms of many parts of body.
Characteristic clinical features of disease, include episodes of pain, particularly in the hands and feet (acropares thesia), small dark red spots (on the skin) called angiokeratomas, decreases ability to sweat (hypohidrosis, crnealopacity, disorders in Gastrointestinal tract, ear ringing (tinnitus), Hearing impairment and nephrologic problem.

 
Keyword(s): FABRY DISEASE, CHILDHOOD, ENZYME REPLACEMENT THERAPY
 
References: 
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