Publications by authors named "Tam Dam Pham"
Article Synopsis
- - TANGO2 deficiency disorder (TDD) is a rare genetic condition that leads to developmental delays, seizures, and serious metabolic and cardiac issues, and this study aimed to outline its natural history.
- - The research gathered data from 73 patients across 16 countries, revealing that most children show normal early development but experience a decline in milestones and various symptoms like ataxia and dystonia starting from ages 1 to 3.
- - Findings suggest that B-complex or multivitamin supplements can significantly reduce the occurrence of metabolic crises in these patients, offering a potential preventive measure.
Background: TANGO2 deficiency disorder (TDD) is an autosomal recessive disease associated with metabolic crisis, lethal cardiac arrhythmias, and cardiomyopathy. Data regarding treatment, management, and outcomes of cardiac manifestations of TDD are lacking.
Objective: The purpose of this study was to describe TDD-related cardiac crises.