TY  - GEN
AU  - Mostafa Ahmed Ezzat
AU  - Amal Ibrahim Elbeshlawy , 
AU  - Manal Niazi Elsaeed , 
AU  - Somaya Elgawhary , 
TI  - Genotype phenotype relationship in gaucher's disease / 
PY  - 2006///
CY  - Cairo : 
PB  - Mostafa Ahmed Ezzat , 
KW  - Gaucher's disease
N1  - Thesis (M.Sc.) - Cairo University - Faculty Of Medicine - Department Of Clinical and Chemical Pathology; Issued also as CD
N2  - Gaucher's disease is the most prevalent of the genetic lysosomal storage disorderIt is an autosomal recessive disease which was described by the French Physician Philippe Gaucher in 1882It is caused by a severe deficiency of glucocerebrosidase enzymatic activity with resultant accumulation of large quantities of glycolipid , glucocerebrosidase within the lysosomes of the phagocytic cells of the monocyte - macrophage systemGaucher's disease is classified to three conventional types ; Type I : chronic non - neuropathic form which usually found in adults especially in Jewish population , Type II : infantile neuropathic form which always appears by 6 months of age by rapidly progressive neurological affection , and Type III : juvenile sub - acute neuropathic with slowly progressive neurological disease that begins at childhood or adolescence
UR  - http://172.23.153.220/th.pdf
ER  -