Please use this identifier to cite or link to this item: https://dspace.ctu.edu.vn/jspui/handle/123456789/43116
Title: Whole exome sequencing make a definitive diagnosis of a Vietnamese patient with a late onset urea cycle disorder
Authors: Nguyen, Ngoc-Lan
Nguyen, Ngoc Khanh
Vu, Chi Dung
Nguyen, Thi Thu Huong
Nguyen, Huy Hoang
Keywords: C.1065A>G
De novo mutation
OTC
P.Ter355TrpextTer14
Urea cycle disorder
Vietnamese patient
Issue Date: 2020
Series/Report no.: Journal of Biotechnology;Vol. 18, No. 02 .- P.209-221
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.
URI: https://dspace.ctu.edu.vn/jspui/handle/123456789/43116
ISSN: 1811-4989
Appears in Collections:Công nghệ sinh học

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