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

• मुख्य लेखकों: Jia-Qi Li (लेखक), Jia-Yan Feng (लेखक), Ying Gong (लेखक), Wang-Qiang Li (लेखक), Teng Liu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2023-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...