Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
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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