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An observational analytical study of the clinical and molecular characteristics of Gaucher Disease patients / Nadine Ahmed Said Ali Gebril ; Supervised Amal Mohamed Elbeshlawy , Amina Abdelsalam Mahmoud

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Nadine Ahmed Said Ali Gebril , 2018Description: 129 P. : charts , facimiles ; 25cmOther title:
  • دراسة رصدية تحليلية للخصائص الاكلينيكية والجزيئية لمرضى الجوشير [Added title page title]
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  • Issued also as CD
Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics Summary: 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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Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.28.M.Sc.2018.Na.O (Browse shelf(Opens below)) Not for loan 01010110078283000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.28.M.Sc.2018.Na.O (Browse shelf(Opens below)) 78283.CD Not for loan 01020110078283000

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

Issued also as CD

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