Associated Papers
Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiency.
Jin JL et al.
Bmc Pediatrics, 2026
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1.
Xiao Y et al.
The Tohoku Journal of Experimental Medicine, 2025
Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene.
Dweikat IM et al.
Bmc Medical Genomics, 2025
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2020
A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis.
Manawadu TV et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2020
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
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
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.
Nguyen KN et al.
Journal of Inherited Metabolic Disease, 2017
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
Kılıç-Yıldırım G et al.
The Turkish Journal of Pediatrics, 2017
Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.
Balasubramaniam S et al.
Jimd Reports, 2016
Inborn errors of ketone body utilization.
Hori T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Ketone body metabolism and its defects.
Fukao T et al.
Journal of Inherited Metabolic Disease, 2014
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.
Fukao T et al.
Jimd Reports, 2012
Beta-ketothiolase deficiency. A case report.
Altintaş B et al.
The Turkish Journal of Pediatrics, 0
Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.
Sundaram S et al.
Neurology India, 0