Associated Papers
Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1.
Xiao Y et al.
The Tohoku Journal of Experimental Medicine, 2025
Infanticide vs. inherited cardiac arrhythmias.
Brohus M et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021
33200177 (PubMed )
Supplement: euaa272_supplementary_appendix.docx
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Abdelkreem E et al.
Human Mutation, 2019
Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.
Thümmler S et al.
The Tohoku Journal of Experimental Medicine, 2010
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.
Mrázová L et al.
Journal of Inherited Metabolic Disease, 2005
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