Associated Papers
Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiency.
Jin JL et al.
Bmc Pediatrics, 2026
Beta-ketothiolase deficiency with neurological impairment: a case report.
Al-Sawadi I et al.
Annals of Medicine and Surgery (2012), 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
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
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
Fukao T et al.
Journal of Human Genetics, 2019
Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China.
Yang Y et al.
Frontiers in Genetics, 2019
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert SC et al.
Molecular Genetics and Metabolism, 2017
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.
Abdelkreem E et al.
Jimd Reports, 2017
Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.
Akella RR et al.
Brain & Development, 2014
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
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