Citrin deficiency in Egyptian infants with cholestasis / (Record no. 55627)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02446cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223031444.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 160320s2014 ua d 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 | Cai01.11.28.Ph.D.2014.Sh.C |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Sherif Ramzy Elbaroudy |
| 245 10 - TITLE STATEMENT | |
| Title | Citrin deficiency in Egyptian infants with cholestasis / |
| Statement of responsibility, etc. | Sherif Ramzy Elbaroudy ; Supervised Nabil Abdelaziz Mohsen , Hanaa Mostafa Elkaraksy , Mohamed Salah Rashed |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | نقص حمض السترين فى الأطفال مرضى الركود المرارى |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Sherif Ramzy Elbaroudy , |
| Date of publication, distribution, etc. | 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 217 P. : |
| Other physical details | charts ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Citrin deficiency is known to be a rare disease mainly in south east Asia. We aimed to study its prevalence in Egyptian children with cholestasis using Tandem Mass Spectrometry (TMS). The study included 161 cholestatic patients below the age of one year; 5 of them were found to have high level of citrulline. All 5 presented between ages of 23 to 90 days; they were 3 males and two females and only one of them was below third percentile for weight and height. All of them had cholestasis and elevated liver enzymes at the time of presentation; 4 had hepatomegaly and one had splenomegaly. Cholestasis resolved in all cases; one proved to be galactosemia. The patient with longest follow up had hyperammoniemia at presentation. Later he became jaundice free with, improvement in liver functions and hyperammonemia; but with motor and mental delay with aversion from sugars in his diet. He has no organomegaly and a recent liver biopsy showed micro-nodular cirrhosis. His clinical picture fits with the diagnosis of citrin deficiency. The study recommends the use of TMS for all cholestatic patients and the use of molecular genetic testing for confirmation of citrin deficiency |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Cholestasis |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Citrin deficiency |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Citrullinemia |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanaa Mostafa Elkaraksy , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohamed Salah Rashed , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nabil Abdelaziz Mohsen , |
| 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 | Samia |
| 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.Ph.D.2014.Sh.C | 01010110068329000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.11.28.Ph.D.2014.Sh.C | 01020110068329000 | 22.09.2023 | CD - Rom | 68329.CD |