EntityQ4897218· pop 6· linked from 86 articlesbeta-ketothiolase deficiencySign in to saveHuman diseaseResearch114 papersRecent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.Journal of human genetics · 2019Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.Clinical diabetes and endocrinology · 2024Beta-ketothiolase deficiency in a Malaysian infant.The Medical journal of Malaysia · 2019Beta-ketothiolase deficiency with neurological impairment: a case report.Annals of medicine and surgery (2012) · 2025NMR-based urinalysis for beta-ketothiolase deficiency.Clinica chimica acta; international journal of clinical chemistry · 2015via PubMedConnectionsenzymeEntitygeneEntityCategoriesAmino acid metabolism disordersAutosomal recessive disordersRare diseasesSource attribution