Mutation spectrum of Pompe disease in a sample of Egyptian pediatric patients / (Record no. 79984)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02854cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223032707.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 210221s2020 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 | Ph.D |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Classification number | Cai01.11.07.Ph.D.2020.Sa.M |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Sarah Ahmed Lotfy Abdalaziz |
| 245 10 - TITLE STATEMENT | |
| Title | Mutation spectrum of Pompe disease in a sample of Egyptian pediatric patients / |
| Statement of responsibility, etc. | Sarah Ahmed Lotfy Abdalaziz ; Supervised Dina Mohamed Elabd , Laila Abdelmotaleb Selim , Walaa Ahmed Mohamed Rabie |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | طيف الطفرة فى مرض بومبى فى عينة من مرضى الاطفال المصريين |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Sarah Ahmed Lotfy Abdalaziz , |
| Date of publication, distribution, etc. | 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 150 P. : |
| Other physical details | charts , facsimiles ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Background:Pompe disease or glycogenosis type II is an autosomal recessive disorder of glycogen metabolism caused by the deficiency of lysosomal Alpha glucosidase enzyme (GAA) due to mutations of the Alpha glucosidase gene (GAA) which results in lysosomal and cytoplasmic accumulations of glycogen eventually leading to tissue destruction especially the cardiac and skeletal muscles. Aim of the Work:The aim of this study was to screen cases of Pompe disease among highly suspected Egyptian pediatric patients referred to Cairo University Children{u2019}s Hospital (Abul-Rish), to identify the presence of Acid alpha glucosidase (GAA) gene mutations and shed light on the importance of molecular analysis of this potentially fatal disease. Methods:13 unrelated pediatric patients were included. Confirmation of clinically suspected Pompe disease was initially performed through measurement of the GAA enzyme level using fluorometric technique then molecular analysis using Sanger sequencing methodof GAA gene was carried out. Results:Genetic diagnosis of 11/13 (84.6%) of the studied cohort was accomplished through detecting the culprit disease causing variant in homozygous pattern in their GAA gene. 10/11 (90.9%) of these variants were missense, while 1/11 (9.1%) was a splice site (null) variant c.956-1G>C. According to ACMG guidelines and standards; 10/11 (90.9%) of those variants were classified as pathogenic, while 1/11 (9.1%) c.1979G>A (p.Arg660His)was classified as likely pathogenic |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | ERT |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | GAA sequencing |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Pompe disease |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dina Mohamed Elabd , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laila Abdelmotaleb Selim , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walaa Ahmed Mohamed Rabie , |
| 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 | Cai01.11.07.Ph.D.2020.Sa.M | 01010110082795000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.11.07.Ph.D.2020.Sa.M | 01020110082795000 | 22.09.2023 | CD - Rom | 82795.CD |