Prenatal diagnosis of sialic acid storage disease in non-immune hydrops fetalis by matrix assisted laser desorption/ionization time of flight mass spectrometry : (Record no. 169714)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02895nam a2200421 i 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OSt |
| 005 - أخر تعامل مع التسجيلة | |
| control field | 20250223033354.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 241224s2023 |||a|||| m||| 000 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Original cataloguing agency | EG-GICUC |
| Language of cataloging | eng |
| Transcribing agency | EG-GICUC |
| Modifying agency | EG-GICUC |
| Description conventions | rda |
| 041 0# - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| Language code of summary or abstract | eng |
| -- | ara |
| 049 ## - Acquisition Source | |
| Acquisition Source | Deposit |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 618.24 |
| 092 ## - LOCALLY ASSIGNED DEWEY CALL NUMBER (OCLC) | |
| Classification number | 618.24 |
| Edition number | 21 |
| 097 ## - Degree | |
| Degree | M.Sc |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Local Call Number | Cai01.24.03.Ph.D.2023.He.P |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Authority record control number or standard number | Heba Ezzat Abdullah, |
| Preparation | preparation. |
| 245 10 - TITLE STATEMENT | |
| Title | Prenatal diagnosis of sialic acid storage disease in non-immune hydrops fetalis by matrix assisted laser desorption/ionization time of flight mass spectrometry : |
| Statement of responsibility, etc. | by Heba Ezzat Abdullah ; Supervised by Prof. Mohamed Amr Hussein El Noury, Prof. Khaled Ramzy Gaber, Prof. Amr Sobhi Gouda, Prof. Jehan Mohamed Abdelrahman EL Sharnoby. |
| Remainder of title | Remainder of title / |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | / تشخيص ما قبل الولادة لمرض تخزين حمض السياليك في حالات الاستسقاء الجنيني غير المناعي بمساعدة امتزاز الليزر عن طريق التأين بتوقيت مطياف الكتلة |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 2023. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 96 pages : |
| Other physical details | illustrations ; |
| Dimensions | 25 cm. + |
| Accompanying material | CD. |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Source | rda content |
| 337 ## - MEDIA TYPE | |
| Media type term | Unmediated |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | volume |
| Source | rdacarrier |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (Ph.D)-Cairo University, 2023. |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE | |
| Bibliography, etc. note | Bibliography: pages 72-93. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | SASD could lead to NIHF as prognosis, however it is still a non-dominant cause, meanwhile, as increased FSA helps directing DNA sequencing to the Sialin/SLC17A5 gene for bi-allelic mutations which is a reliable diagnosis of SASD, we recommend including quantification of free sialic acid in amniotic fluid using MS/MS as a possible biochemical screen for LSDs causes of NIHF; in conjunction with SLC17A5 gene in NIHF genetic screening panels. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | تم تشخيص حالتين مصابتين بمرض تخزين حمض السياليك في حالات الاستسقاء الجنيني غير المناعي.<br/>يعد تشخيص أو استبعاد اضطراب التمثيل الغذائي كعامل مسبب لـ حالات الاستسقاء الجنيني غير المناعي أمرًا مهمًا لأن هذه الاضطرابات الجينية المفردة تنطوي على خطر التكرار بنسبة 25 ٪ |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Issues CD | Issues also as CD. |
| 546 ## - LANGUAGE NOTE | |
| Text Language | Text in English and abstract in Arabic & English. |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Born birth care |
| Source of heading or term | qrmak |
| 653 #0 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Prenatal Diagnosis |
| -- | Sialic Acid |
| -- | Non-Immune Hydrops Fetalis |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hesham Abd El Hakam |
| Relator term | thesis advisor. |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sherif Ali Hassan |
| Relator term | thesis advisor. |
| 900 ## - Thesis Information | |
| Grant date | 01-01-2023 |
| Supervisory body | Hesham Abd El Hakam |
| -- | Sherif Ali Hassan |
| Universities | Cairo University |
| Faculties | Faculty of Dentistry |
| Department | Department of Oral and Maxillofacial Surgery |
| 905 ## - Cataloger and Reviser Names | |
| Cataloger Name | Shimaa |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Dewey Decimal Classification |
| Suppress in OPAC | No |
| Koha item type | Thesis |
| Edition | 21 |
| Source of classification or shelving scheme | Home library | Current library | Date acquired | Inventory number | Full call number | Barcode | Date last seen | Effective from | Koha item type |
|---|---|---|---|---|---|---|---|---|---|
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | قاعة الرسائل الجامعية - الدور الاول | 24.12.2024 | 90061 | Cai01.24.03.Ph.D.2023.He.P | 01010110090061000 | 24.12.2024 | 24.12.2024 | Thesis |