Genotype phenotype relationship in gaucher's disease /
Mostafa Ahmed Ezzat
Genotype phenotype relationship in gaucher's disease / العلاقة بين الطفرات الجينية و الانواع الاكلينيكية فى مرض جوشر Mostafa Ahmed Ezzat ; Supervised Somaya Elgawhary , Manal Niazi Elsaeed , Aamal Ibrahim Elbeshlawy - Cairo : Mostafa Ahmed Ezzat , 2006 - 106P : ill ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty Of Medicine - Department Of Clinical and Chemical Pathology
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
Gaucher's disease
Genotype phenotype relationship in gaucher's disease / العلاقة بين الطفرات الجينية و الانواع الاكلينيكية فى مرض جوشر Mostafa Ahmed Ezzat ; Supervised Somaya Elgawhary , Manal Niazi Elsaeed , Aamal Ibrahim Elbeshlawy - Cairo : Mostafa Ahmed Ezzat , 2006 - 106P : ill ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty Of Medicine - Department Of Clinical and Chemical Pathology
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
Gaucher's disease