First report of 3-oxothiolase deficiency in Iran

A Goudarzi - Life sciences, 2019 - Elsevier

Acetoacetyl-CoA thiolase also known as acetyl-CoA acetyltransferase (ACAT) corresponds
to two enzymes, one cytosolic (ACAT2) and one mitochondrial (ACAT1), which is thought to …

被引用次数：76 相关文章所有 5 个版本

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Beta-ketothiolase deficiency presenting with metabolic stroke after a normal newborn screen in two individuals

MH Wojcik, KJ Wierenga, LH Rodan, I Sahai… - JIMD Reports, Volume …, 2017 - Springer

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase) deficiency is a genetic disorder
characterized by impaired isoleucine catabolism and ketone body utilization that …

被引用次数：18 相关文章所有 12 个版本

NMR-based urinalysis for beta-ketothiolase deficiency

CY Law, CW Lam, C Ching, KCE Yau, T Ho, C Lai… - Clinica Chimica …, 2015 - Elsevier

Background Beta-ketothiolase deficiency is a rare inborn errors of metabolism (IEM)
affecting the catabolism of isoleucine, characterized by severe ketoacidosis in children of 6 …

被引用次数：13 相关文章所有 6 个版本

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[HTML][HTML] A novel mutation of beta-ketothiolase deficiency: the first report from Iran and review of literature

R Vakili, S Hashemian - Iranian Journal of Child Neurology, 2018 - ncbi.nlm.nih.gov

Beta-ketothiolase deficiency is a rare autosomal recessive disorder characterized by an
inborn error of isoleucine catabolism and affecting ketone body metabolism. Clinical …

被引用次数：4 相关文章所有 10 个版本

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线粒体乙酰乙酰辅酶A 硫解酶缺乏症一家系报告并文献复习

胡宇慧，崔冬，刘麟，陈淑丽 - 临床儿科杂志, 2016 - jcp.xinhuamed.com.cn

目的探讨线粒体乙酰乙酰辅酶A 硫解酶缺乏症(简称T2 缺乏症) 的诊断及预后.
方法回顾性分析一家系中3 例T2 缺乏症患儿的临床资料, 并复习相关文献. 结果例1 和例2 …