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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
 
 
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APA: Copy

TAGHDIRI, M. (2012). TYPE 2 GAUCHER DISEASE (ACUTE INFANTILE GAUCHER DISEASE OR NEUROPATHIC TYPE). IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 6(4 (SUPPL 1)), 12-12. https://www.sid.ir/en/journal/ViewPaper.aspx?id=410917



Vancouver: Copy

TAGHDIRI MOHAMMAD MEHDI. TYPE 2 GAUCHER DISEASE (ACUTE INFANTILE GAUCHER DISEASE OR NEUROPATHIC TYPE). IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN). 2012 [cited 2022June30];6(4 (SUPPL 1)):12-12. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=410917



IEEE: Copy

TAGHDIRI, M., 2012. TYPE 2 GAUCHER DISEASE (ACUTE INFANTILE GAUCHER DISEASE OR NEUROPATHIC TYPE). IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), [online] 6(4 (SUPPL 1)), pp.12-12. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=410917.



 
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