Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12314
Abstract: TANGO2 disease is a severe inherited disorder associating multiple symptoms such as metabolic crises, encephalopathy, cardiac arrhythmias, and hypothyroidism. The mechanism of action of TANGO2 is currently unknown. Here, we describe a cohort of 20… read more here.
Keywords: metabolic crises; triggers metabolic; disease; clinical biological ... See more keywords
Management of cardiac arrhythmias in paediatric patients with TANGO2-deficiency disorder
Sign Up to like & getrecommendations! Published in 2023 at "Europace"
DOI: 10.1093/europace/euad122.351
Abstract: Abstract Funding Acknowledgements Type of funding sources: None. Background TANGO2-deficiency disorder (TDD) is a rare paediatric condition caused by bi-allelic mutations in the TANGO2 gene. TDD is characterised by susceptibility to metabolic crises with rhabdomyolysis,… read more here.
Keywords: paediatric patients; metabolic crises; patients tdd; deficiency disorder ... See more keywords