TY  - BOOK
AU  - Nadine Ahmed Said Ali Gebril
AU  - Amal Mohamed Elbeshlawy , 
AU  - Amina Abdelsalam Mahmoud , 
TI  - An observational analytical study of the clinical and molecular characteristics of Gaucher Disease patients / 
PY  - 2018///
CY  - Cairo : 
PB  - Nadine Ahmed Said Ali Gebril , 
KW  - Gaucher disease
KW  - Genotype
KW  - Phenotype
N1  - Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics; Issued also as CD
N2  - 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
UR  - http://172.23.153.220/th.pdf
ER  -