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3 in total

Review 1. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.

Authors: O Søvik
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

2. A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.

Authors: K M Gibson; C F Lee; V Kamali; O Søvik
Journal: Clin Chim Acta Date: 1992-01-31 Impact factor: 3.786

Review 3. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.

Authors: T Fukao; S Yamaguchi; T Orii; T Hashimoto
Journal: Hum Mutat Date: 1995 Impact factor: 4.878

3 in total

2 in total

1. beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia?

Authors: K Monastiri; F Amri; K Limam; N Kaabachi; M N Guediche
Journal: J Inherit Metab Dis Date: 1999-12 Impact factor: 4.982

Review 2. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Authors: Elsayed Abdelkreem; Rajesh K Harijan; Seiji Yamaguchi; Rikkert K Wierenga; Toshiyuki Fukao
Journal: Hum Mutat Date: 2019-07-03 Impact factor: 4.878

2 in total