Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

Autosomal recessive pathogenetic variants in the DGUOK gene cause deficiency of deoxyguanosine kinase activity and mitochondrial deoxynucleotides pool imbalance, consequently, leading to quantitative and/or qualitative impairment of mitochondrial DNA synthesis. Typically, patients present early-onse...

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Những tác giả chính:	Manzoni, E, Carli, S, Gaignard, P, Schlieben, LD, Hirano, M, Ronchi, D, Gonzales, E, Shimura, M, Murayama, K, Okazaki, Y, Barić, I, Petkovic Ramadza, D, Karall, D, Mayr, J, Martinelli, D, La Morgia, C, Primiano, G, Santer, R, Servidei, S, Bris, C, Cano, A, Furlan, F, Gasperini, S, Laborde, N, Nesbitt, V
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	Oxford University Press 2024

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

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