Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child

Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child

DGUOK deficiency has primarily been associated with lethal hepatic failure with or without hypotonia, nystagmus, and psychomotor retardation, features typical of mitochondrial disease. A study in 3 Turkish children identified homozygosity for a variant in DGUOK as associated with idiopathic non-cirr...

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Bibliographic Details
Main Authors: Jia-Qi Li, Jia-Yan Feng, Ying Gong, Wang-Qiang Li, Teng Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Pediatrics
Subjects:
case report
DGUOK
genetic variant
idiopathic non-cirrhotic portal hypertension
mitochondrial depletion syndrome
porto-sinusoidal vascular disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1236239/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1236239/full

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