Akihiro Wakazono

Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients

Akihiro Wakazono, Toshiyuki Fukao, Seiji Yamaguchi et al. · Human Mutation · 1995 · 39 citations

Life Sciences, Biochemistry, Molecular Biology +10

Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency.

Toshiyuki Fukao, Seiji Yamaguchi, Akihiro Wakazono et al. · Journal of Clinical Investigation · 1994 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular studies of mitochondrial acetoacetyl-coenzyme a thiolase deficiency in the two original families

Toshiyuki Fukao, Seiji Yamaguchi, C R Scriver et al. · Human Mutation · 1993 · 30 citations

Life Sciences, Genetics, Molecular Genetics +16

Biochemical and Immunochemical Study of Seven Families with 3-Ketothiolase Deficiency: Diagnosis of Heterozygotes Using Immunochemical Determination of the Ratio of Mitochondrial Acetoacetyl-CoA Thiolase and 3-Ketoacyl-CoA Thiolase Proteins

Seiji Yamaguchi, Atsuko Sakai, Toshiyuki Fukao et al. · Pediatric Research · 1993 · 10 citations

Life Sciences, Biochemistry, Molecular Genetics +10