Please use this identifier to cite or link to this item:
https://dspace.ctu.edu.vn/jspui/handle/123456789/43116
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Nguyen, Ngoc-Lan | - |
dc.contributor.author | Nguyen, Ngoc Khanh | - |
dc.contributor.author | Vu, Chi Dung | - |
dc.contributor.author | Nguyen, Thi Thu Huong | - |
dc.contributor.author | Nguyen, Huy Hoang | - |
dc.date.accessioned | 2021-01-18T02:15:13Z | - |
dc.date.available | 2021-01-18T02:15:13Z | - |
dc.date.issued | 2020 | - |
dc.identifier.issn | 1811-4989 | - |
dc.identifier.uri | https://dspace.ctu.edu.vn/jspui/handle/123456789/43116 | - |
dc.description.abstract | Our report describes a female presenting with vomiting, fever, coma and right hemiplegia at 26 months of age. Biochemical tests revealed hyperammonemia, hyperlactatemia, elevated glutamine level, elevated transaminase and disorder of prothrombin time. She was priory diagnosed with urea cycle disorders (UCDs). UCDs are caused by mutations in eight genes that regulate the synthesis of enzymes and cofactors involved in urea metabolism. Singleton whole exome sequencing was applied to screen causative variants in these genes in the patient at 6 years of age. | vi_VN |
dc.language.iso | en | vi_VN |
dc.relation.ispartofseries | Journal of Biotechnology;Vol. 18, No. 02 .- P.209-221 | - |
dc.subject | C.1065A>G | vi_VN |
dc.subject | De novo mutation | vi_VN |
dc.subject | OTC | vi_VN |
dc.subject | P.Ter355TrpextTer14 | vi_VN |
dc.subject | Urea cycle disorder | vi_VN |
dc.subject | Vietnamese patient | vi_VN |
dc.title | Whole exome sequencing make a definitive diagnosis of a Vietnamese patient with a late onset urea cycle disorder | vi_VN |
dc.type | Article | vi_VN |
Appears in Collections: | Công nghệ sinh học |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
_file_ Restricted Access | 3.42 MB | Adobe PDF | ||
Your IP: 18.222.110.231 |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.