Associated Papers
Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis.
Campos-Acevedo LD et al.
Pediatric Reports, 2025
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1.
Xiao Y et al.
The Tohoku Journal of Experimental Medicine, 2025
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Abdelkreem E et al.
Human Mutation, 2019
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
Fukao T et al.
Journal of Human Genetics, 2019
Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.
Sakurai S et al.
Molecular Genetics and Metabolism, 2007
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