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A molecular study of ABCB4 (MDR3) gene mutation in cholestatic disorders of infancy / (Record no. 72765)

MARC details
000 -LEADER
fixed length control field 02420cam a2200349 a 4500
003 - CONTROL NUMBER IDENTIFIER
control field EG-GiCUC
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250223032325.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 190710s2019 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 Cai01.11.28.Ph.D.2019.Ne.M
100 0# - MAIN ENTRY--PERSONAL NAME
Personal name Nevian Nabil Abbass
245 12 - TITLE STATEMENT
Title A molecular study of ABCB4 (MDR3) gene mutation in cholestatic disorders of infancy /
Statement of responsibility, etc. Nevian Nabil Abbass ; Supervised Hanaa Mostafa Elkaraksy , Mona Elsaid Elraziky , Sahar Abdelatty Sharaf
246 15 - VARYING FORM OF TITLE
Title proper/short title في أمراض الركود المرارى في الطفوله ABCB4 دراسة جزيئية عن تحور {uئآ٧ؤ}ين
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Place of publication, distribution, etc. Cairo :
Name of publisher, distributor, etc. Nevian Nabil Abbass ,
Date of publication, distribution, etc. 2019
300 ## - PHYSICAL DESCRIPTION
Extent 158 P. :
Other physical details charts , facsimiles ;
Dimensions 25cm
502 ## - DISSERTATION NOTE
Dissertation note Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics
520 ## - SUMMARY, ETC.
Summary, etc. Progressive familial intrahepatic cholestasis type 3 is caused by a genetic defect in the ABCB4 gene (also designated MDR3) located on chromosome 7. PFIC3 has wide variety of symptoms and usually progresses from chronic cholestasis with or without jaundice to portal hypertension and end stage liver disease. The aim of this study is to detect ABCB4 (MDR3) gene mutations as a cause of PFIC3 in infants with cholestasis.This cross sectional study was conducted at the Pediatric Hepatology Unit over a 3-year period from January 2013 till January 2016. Thirty cholestatic patients with high GGT with onset of symptoms in the first year of life were enrolled. All patients were subjected to full history and clinical examination. Laboratory tests were done in the form of complete blood count, liver function tests, alpha-1-antitrypsin level and TORCH screen when indicated. Abdominal ultrasound was done to all patients. All patients underwent liver biopsy and histopathology. Genetic sequencing was done to all patients with DNA extraction to be used for performing the PCR for ABCB4 gene study
530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE
Additional physical form available note Issued also as CD
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term ABCB4
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term MDR3
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term PFIC3
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Hanaa Mostafa Elkaraksy ,
Relator term
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Mona Elsaid Elraziky ,
Relator term
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Sahar Abdelatty Sharaf ,
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
Holdings
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.2019.Ne.M 01010110078604000 22.09.2023 Thesis  
Dewey Decimal Classification   المكتبة المركزبة الجديدة - جامعة القاهرة مخـــزن الرســائل الجـــامعية - البدروم 11.02.2024 Cai01.11.28.Ph.D.2019.Ne.M 01020110078604000 22.09.2023 CD - Rom 78604.CD