MARC details
| 000 -LEADER |
|---|
| fixed length control field |
03301cam a2200325 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER |
|---|
| control field |
EG-GiCUC |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
|---|
| fixed length control field |
211020s2021 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.2021.Na.B |
| 100 0# - MAIN ENTRY--PERSONAL NAME |
|---|
| Personal name |
Naira Mohamed Mustafa Abdelhamid |
| 245 10 - TITLE STATEMENT |
|---|
| Title |
Biochemical characterisation and screening for creatine deficiency syndromes in children with autistic spectrum disorders or epilepsy / |
| Statement of responsibility, etc. |
Naira Mohamed Mustafa Abdelhamid ; Supervised Nevine Ezz Eldin Elabd , Laila Abdelmotelb Selim , Kathryn Beardsall |
| 246 15 - VARYING FORM OF TITLE |
|---|
| Title proper/short title |
التوصيف الكيميائى الحيوى وفحص متلازمة نقص الكرياتين لدى الاطفال الذين يعانون من اضطرابات التوحد أو الصرع |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
|---|
| Place of publication, distribution, etc. |
Cairo : |
| Name of publisher, distributor, etc. |
Naira Mohamed Mustafa Abdelhamid , |
| Date of publication, distribution, etc. |
2021 |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
162 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: Creatine deficiency syndromes (CDSs) are disorders affecting creatine synthesis or transport. Several methods have been developed to measure GAA and creatine in different body fluids such as gas chromatography mass spectrometry (GC-MS) and High-pressure liquid chromatography mass spectrometry (HPLC/MS). Confirming the diagnosis of CDSs is performed by sequencing of the corresponding gene or functional enzymatic assay. The main aim of the current study was to find the most reliable, accurate, and cost-effective screening method for CDSs. Additionally, this study aimed at discovering novel variant in AGAT, GAMT and SLC6A8 genes in Egyptian patients and investigating other possible genes that could contribute to the development of CDSs. Finally, this study was performed to estimate the prevalence of CDSs in a cohort of Egyptian patients presenting with the clinical signs and symptoms of possible CDSs. Subjects and methods: This study was conducted on 150 subjects with clinical signs and symptoms highly suspected of CDSs. Metabolic profiling of all urine samples was performed using three techniques: 1) GC/MS 2) Ultra high-pressure (or performance) liquid chromatography - Mass Spectrometry (UHPLC/MS) and 3) Nuclear Magnetic Resonance spectroscopy (NMR).Ten cases had positive screening test by GC/MS, UHPLC/MS and/or NMR and subsequently underwent clinical exome sequencing by next generation sequencing (NGS) technique. Results: UHPLC-MS and NMR methods had positive linear correlation with GC- MS.The linearity of creatine and GAA by the two methods covered and exceeded the values normally found in the urine.The limit of quantification for creatine and GAA respectively was 0.25 æmol/L and 0.25 æmol/L by UHPLC-MS and 10 æmol/L and 50 æmol/L by NMR |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE |
|---|
| Additional physical form available note |
Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Arginine Glycine Amidinotransferase (AGAT) |
| 653 #4 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Creatine deficiency syndrome |
| 653 #4 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
N-Guanidinoacetate Methyltransferase (GAMT) |
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Kathryn Beardsall , |
| Relator term |
|
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Laila Abdelmotelb Selim , |
| Relator term |
|
| 700 0# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Nevine Ezz Eldin Elabd , |
| Relator term |
|
| 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 |
