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...
| Автори: | , , , , |
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| Формат: | Стаття |
| Мова: | English |
| Опубліковано: |
Frontiers Media S.A.
2023-09-01
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| Серія: | Frontiers in Pediatrics |
| Предмети: | |
| Онлайн доступ: | https://www.frontiersin.org/articles/10.3389/fped.2023.1236239/full |