Mutational study of NPC1 gene in a sample of niemann-pick type C patients / (Record no. 79499)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03285cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223032652.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 210109s2020 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 | Cai01.12.02.Ph.D.2020.As.M |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Asmaa Fawzy Abdelaleem Moustafa |
| 245 10 - TITLE STATEMENT | |
| Title | Mutational study of NPC1 gene in a sample of niemann-pick type C patients / |
| Statement of responsibility, etc. | Asmaa Fawzy Abdelaleem Moustafa ; Supervised Mohamed Ahmed Badawy , Mona Lotfi Essawy , Ekram Maher Fateen |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | دراسة للطفرات الموجودة فى الجين (إن. بى. سى 1) فى مجموعة من المرضى المصابين بمرض النيمين - بيك النوع - سى |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Asmaa Fawzy Abdelaleem Moustafa , |
| Date of publication, distribution, etc. | 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 105 P. : |
| Other physical details | charts , facsimiles ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (Ph.D.) - Cairo University - Faculty of Science - Department of Biochemistry |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Niemann-Pick disease type C (NPC) is an autosomal recessive lysosomal lipid storage disorder caused by mutations in either NPC1 (95% of cases) or NPC2 in the remaining cases. It is characterized by an impaired intracellular lipid trafficking leading to the aggregation of unesterified cholesterol and various sphingolipids in different body organs such as the liver, spleen, and brain. The estimated incidence of NPC is 1/100000. Although early disease diagnosis is very crucial for proper initiation of treatment and inhibition of disease progression, proper diagnosis at the early stages of the disease is difficult due to its wide heterogeneous clinical presentation. In our study, we aimed at the molecular diagnosis of NPC in Egyptian patients and investigate certain NPC1 mutations hotspots residues (855{u2013}1098) and (1038{u2013}1253) in the NPC1 gene. This study included 15 Egyptian patients derived from 15 families. Consanguinity was certain in 12 families (80%). They were 9 males (60%) and 6 females (40%) and their age ranged from 6 months to 10 years. The onset of disease varied from early infantile to juvenile form. Accordingly, our patients were classified into early infantile (<2 years) in 7 patients (46.7%), late-infantile (2{u2013}5 years) in 4 patients (26.7%), juvenile (5{u2013}16 years) in 1 patient (6.7%). Assessment of peripheral leukocytic Ý-glucocerebrosidase and peripheral leukocytic acid sphingomyelinase enzymes showed normal values in all patients, while a remarkable elevated level in the chitotriosidase assay was observed for all patients in compared to control. Molecular analysis of the 9 exons of NPC1 (exons 17-25) confirmed 6 different mutations (15 mutant alleles out of 30 studied alleles). They are distributed as follows, two homozygous missense novel mutations in the amino acid residue (1038-1253) |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Autosomal recessive |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Lysosomal storage disorder |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Niemann-Pick type C |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ekram Maher Fateen , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohamed Ahmed Badawy , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mona Lotfi Essawy , |
| 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 | Cai01.12.02.Ph.D.2020.As.M | 01010110082498000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.12.02.Ph.D.2020.As.M | 01020110082498000 | 22.09.2023 | CD - Rom | 82498.CD |