000			020760000a22003250004500
003			EG-GICUC
005			20250223032634.0
008			070326s2006 ua a f m 000 0 eng d
040			_aEG-GICUC _beng _cEG-GICUC
041	0		_aEng
049			_aDeposite
097			_aM.Sc
099			_aCai01.11.07.M.Sc.2006.Mo.G
100	0		_aMostafa Ahmed Ezzat
245	1	0	_aGenotype phenotype relationship in gaucher's disease / _cMostafa Ahmed Ezzat ; Supervised Somaya Elgawhary , Manal Niazi Elsaeed , Aamal Ibrahim Elbeshlawy
246	1	5	_aالعلاقة بين الطفرات الجينية و الانواع الاكلينيكية فى مرض جوشر
260			_aCairo : _bMostafa Ahmed Ezzat , _c2006
300			_a106P : _bill ; _c25cm
502			_aThesis (M.Sc.) - Cairo University - Faculty Of Medicine - Department Of Clinical and Chemical Pathology
520			_aGaucher'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
530			_aIssued also as CD
653		4	_aGaucher's disease
700	0		_aAmal Ibrahim Elbeshlawy , _eSupervisor
700	0		_aManal Niazi Elsaeed , _eSupervisor
700	0		_aSomaya Elgawhary , _eSupervisor
856			_uhttp://172.23.153.220/th.pdf
905			_aAml _eCataloger
905			_aEsam _eRevisor
942			_2ddc _cTH
999			_c78901 _d78901