Associated Papers
Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract.
Gong X et al.
Frontiers in Pediatrics, 2026
AGK regulates the progression to NASH by affecting mitochondria complex I function.
Ding N et al.
Theranostics, 2022
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene.
Wang B et al.
Frontiers in Pediatrics, 2021
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Guleray N et al.
Fetal and Pediatric Pathology, 2020
Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.
Beck DB et al.
Translational Science of Rare Diseases, 2018
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
Allali S et al.
Metabolic Brain Disease, 2017
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A et al.
Orphanet Journal of Rare Diseases, 2014
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
Siriwardena K et al.
Molecular Genetics and Metabolism, 2013
Select a paper to view details