An observational analytical study of the clinical and molecular characteristics of Gaucher Disease patients /
Nadine Ahmed Said Ali Gebril
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
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
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
Gaucher disease Genotype Phenotype
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
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
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
Gaucher disease Genotype Phenotype