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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Ngā kaituhi matua: Jia-Qi Li (Author), Jia-Yan Feng (Author), Ying Gong (Author), Wang-Qiang Li (Author), Teng Liu (Author)
Hōputu: Pukapuka
I whakaputaina: Frontiers Media S.A., 2023-09-01T00:00:00Z.
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