Click for new scientific resources and news about Corona[COVID-19]

Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   FALL 2012 , Volume 6 , Number 4 (SUPPL 1); Page(s) 12 To 12.
 
Paper: 

TYPE 2 GAUCHER DISEASE (ACUTE INFANTILE GAUCHER DISEASE OR NEUROPATHIC TYPE)

 
 
Author(s):  TAGHDIRI MOHAMMAD MEHDI*
 
* MOFID CHILDREN HOSPITAL, SHARIATI AVE, TEHRAN, IRAN
 
Abstract: 

Gaucher disease it a relatively frequent recessive disease affecting 1 in 400.000 to 1 in 200.000 persons and 1 in 400 to 1 in 2000 persons among Ashkenazi Jews. The gene coding for beta-glucocerebrosidase is located on chromosome 1q21-q31.
Type 1 Gauche disease is the most common type but is only occasionally observed in children. There is no involvement of the CNS except in rare cases.
Type 2 Gaucher disease or neuropathic type is also due to glucosyl ceramide beta-glucosidase deficiency.

 
Keyword(s): ACUTE INFANTILE GAUCHER DISEASE, MOTOR REGRESSION, HYPOTONIA
 
References: 
  • ندارد
 
  pdf-File tarjomyar Yearly Visit 80
 
Latest on Blog
Enter SID Blog