Nadine Ahmed Said Ali Gebril <br/><br/>
An observational analytical study of the clinical and molecular characteristics of Gaucher Disease patients /  
 دراسة رصدية تحليلية للخصائص الاكلينيكية والجزيئية لمرضى الجوشير 
Nadine Ahmed Said Ali Gebril ; Supervised Amal Mohamed Elbeshlawy , Amina Abdelsalam Mahmoud 
 - Cairo :   Nadine Ahmed Said Ali Gebril ,   2018 
 - 129 P. :   charts , facimiles ;   25cm  
<br/><br/>Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics 
<br/><br/> Introduction: Gaucher disease (GD) is a recessively inherited error of metabolism due to a deficiency of glucocerebrosidase. Two major phenotypes: non-neuropathic form (type 1) and neuropathic form (types 2 and 3).Objective: to describe clinical and molecular characteristics of a cohort of ethnically homogeneous patients with GD in Egypt and to investigate the occurrence of disease-related complications among the studied chort and their overall survival since diagnosis.Patients and Methods: A retrospective observational analytical study included 156 patients with GD attending our hematology clinic. The recombinant enzyme imiglucerase (cerezyme) was given in a dose of 60 U/kg/2 weeks. We gathered relevant information regarding history, physical examination and their radiological and laboratory data including full blood count, ß-Glucocerebrosidase enzyme assay and liver enzymes level. In addition, we studied the most common GBA mutations among the patients 
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<br/><br/><label>Subjects--Index Terms: </label>Gaucher disease   Genotype  Phenotype