Biotinidase deficiency : (Record no. 63874)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02871cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223031852.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 171205s2017 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.2017.Am.B |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Amera Elsayed Elbadawy Ibrahim |
| 245 10 - TITLE STATEMENT | |
| Title | Biotinidase deficiency : |
| Remainder of title | Clinical, biochemical and molecular study of high risk Egyptian pediatric patients / |
| Statement of responsibility, etc. | Amera Elsayed Elbadawy Ibrahim ; Supervised Laila Abdelmoteleb Selim , Sawsan Abdelhady Hasan , Amina Abdelsalam Mahmoud |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | دراسة إكلينيكية: كيميائية و وراثية لمرض نقص إنزيم البيوتينيديز فى الأطفال المصريين الأكثر عرضة للإصابة به |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Amera Elsayed Elbadawy Ibrahim , |
| Date of publication, distribution, etc. | 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 198 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. | If untreated, children with biotinidase deficiency usually exhibit seizures, hypotonia, ataxia, global developmental delay, vision problems, hearing loss and cutaneous abnormalities (alopecia, skin rash, and candidiasis). The deficiency of the enzyme may be profound ({u02C2}10%) or partial (10-30%), all symptomatic children improve when treated with 5-10mg of oral biotin/day while those identified by newborn screening should remain asymptomatic if the treatment is instituted early and continuously lifelong. In this study, the frequency, clinical profile and molecular infrastructure of biotinidase deficiency among high risk children were depicted. Methods: Serum biotinidase is determined by colorimetric technique followed by sequencing of BTD gene in deficient patients. Results: Being an autosomal recessive neurocutaneous disease, biotinidase deficiency is frequent (11%) among our studied group owing to high degree of consanguinity; the more severe phenotype due to profound deficiency is more common than the less severe partial one. Most of our studied patients (88.8%) exhibited homozygous private novel mutations in exon 4. Conclusion: High index of suspicion should be maintained to identify patients with biotinidase deficiency early to institute biotin therapy and prevent disabling neurological sequalae, till a nationwide newborn screening program is implemented |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Biotinidase deficiency |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Colorimetric assay |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Mutations |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amina Abdelsalam Mahmoud , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laila Abdelmoteleb Selim , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sawsan Abdelhady Hasan , |
| 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.2017.Am.B | 01010110073668000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.11.28.Ph.D.2017.Am.B | 01020110073668000 | 22.09.2023 | CD - Rom | 73668.CD |