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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Detalles Bibliográficos
Autores principales: Li, Jia-Qi, Feng, Jia-Yan, Gong, Ying, Li, Wang-Qiang, Liu, Teng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10565027/
https://www.ncbi.nlm.nih.gov/pubmed/37830057
http://dx.doi.org/10.3389/fped.2023.1236239

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10565027/
https://www.ncbi.nlm.nih.gov/pubmed/37830057
http://dx.doi.org/10.3389/fped.2023.1236239

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