Associated Papers
Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report.
Guo J et al.
World Journal of Clinical Cases, 2021
C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Abdelkreem E et al.
Human Mutation, 2019
31268215 (PubMed )
Supplement: HUMU-40-1641-s001.pdf
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
Fukao T et al.
Journal of Human Genetics, 2019
A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature.
Vakili R et al.
Iranian Journal of Child Neurology, 2018
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