Associated Papers
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2020
32345314 (PubMed )
Supplement: 13023_2020_1357_MOESM1_ESM.docx
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
Diagnosis and management of defects of mitochondrial beta-oxidation.
Vockley J et al.
Current Opinion in Clinical Nutrition and Metabolic Care, 2002
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.
Fukao T et al.
Human Mutation, 1998
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.
Fukao T et al.
Human Mutation, 1997
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