An observational analytical study of the clinical and molecular characteristics of Gaucher Disease patients / (Record no. 72285)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02282cam a2200337 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223032311.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 190610s2018 ua dh f m 000 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | EG-GiCUC |
| Language of cataloging | eng |
| Transcribing agency | EG-GiCUC |
| 041 0# - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| 049 ## - LOCAL HOLDINGS (OCLC) | |
| Holding library | Deposite |
| 097 ## - Thesis Degree | |
| Thesis Level | M.Sc |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Classification number | Cai01.11.28.M.Sc.2018.Na.O |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Nadine Ahmed Said Ali Gebril |
| 245 13 - TITLE STATEMENT | |
| Title | An observational analytical study of the clinical and molecular characteristics of Gaucher Disease patients / |
| Statement of responsibility, etc. | Nadine Ahmed Said Ali Gebril ; Supervised Amal Mohamed Elbeshlawy , Amina Abdelsalam Mahmoud |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | دراسة رصدية تحليلية للخصائص الاكلينيكية والجزيئية لمرضى الجوشير |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Nadine Ahmed Said Ali Gebril , |
| Date of publication, distribution, etc. | 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 129 P. : |
| Other physical details | charts , facimiles ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | 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 |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Gaucher disease |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Genotype |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Phenotype |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amal Mohamed Elbeshlawy , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amina Abdelsalam Mahmoud , |
| Relator term | |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="http://172.23.153.220/th.pdf">http://172.23.153.220/th.pdf</a> |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Nazla |
| Reviser | Revisor |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Shimaa |
| Reviser | Cataloger |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Dewey Decimal Classification |
| Koha item type | Thesis |
| Source of classification or shelving scheme | Not for loan | Home library | Current library | Date acquired | Full call number | Barcode | Date last seen | Koha item type | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | قاعة الرسائل الجامعية - الدور الاول | 11.02.2024 | Cai01.11.28.M.Sc.2018.Na.O | 01010110078283000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.11.28.M.Sc.2018.Na.O | 01020110078283000 | 22.09.2023 | CD - Rom | 78283.CD |