Biochemical diagnosis of wolman disease among clinically suspected patients / (Record no. 79651)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03161cam a2200337 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223032657.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 210123s2020 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 | M.Sc |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Classification number | Cai01.12.21.M.Sc.2020.Ma.B |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Marwa Bahaa Eldeen Abdellatif Dakroury |
| 245 10 - TITLE STATEMENT | |
| Title | Biochemical diagnosis of wolman disease among clinically suspected patients / |
| Statement of responsibility, etc. | Marwa Bahaa Eldeen Abdellatif Dakroury ; Supervised Mohammad Akmal Abdelrheem Elghor , Ekram Maher Fateen |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | التشخيص البيوكيمائى لمرض ولمان فى المرضى المشتبه بهم اكلينيكيا |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Marwa Bahaa Eldeen Abdellatif Dakroury , |
| Date of publication, distribution, etc. | 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 88 P. : |
| Other physical details | charts , facsimiles ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (M.Sc.) - Cairo University - Faculty of Science - Department of Zoology |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Background: Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disease, causing two different disorders, Wolman disease (WD) and Cholesteryl Ester Storage disease (CESD). WD is the severest type of lysosomal acid lipase deficiency. It causes accumulation of lipids in body organs and calcium deposits in the adrenal glands. The phenotype in infants include hepatosplenomegaly, failure to thrive, jaundice, vomiting, diarrhea, developmental delay, and anemia. It is life threatening in early childhood; however the late form appears after puberty and in some cases at older ages, leading to liver dysfunction. A recent method was established to measure the activity of the enzyme in a dried blood spot, using Lalistat 2 as an inhibitor.The aim was to diagnose Wolman disease among a group of high risk patients with organomegaly and establishing the dried blood spot technique. Subjects and methods: Eighty five subjects were recruited, 30 normal controls, 55 patients with severe hepatic congenital disorders. Four different enzyme activities were measured (Chitotriosidase, Bglucosidase, Sphingomylinase and Lysosomal acid lipase). Results: 55 patients were diagnosed : 17 Gaucher patients, 6 NiemannPick A/B patients, 3 Wolman patients and 29 patients were suspected to be other lysosomal storage disorder or NiemannPick C (NPC) patients for further investigations Conclusion: ؛lasma chitotriosidase, peripheral leukocytic Ý-glucosidase and acid sphingomyelinase enzyme activity should be measured to all patients with clinical suspicion of WD, in order to exclude Gaucher disease (GD) and NiemannPick disease (NPD) as they share some symptoms on the early onset of the disease, and are of a higher risk to take place than Wolman. Screening for acid lipase enzyme activity is an accurate technique for the diagnosis of WD |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Dried blood spot |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Lysosomal acid lipase |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Wolman disease |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ekram Maher Fateen , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohammad Akmal Abdelrheem Elghor , |
| 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 | Cai01.12.21.M.Sc.2020.Ma.B | 01010110082613000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.12.21.M.Sc.2020.Ma.B | 01020110082613000 | 22.09.2023 | CD - Rom | 82613.CD |