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Molecular Genetics and Metabolism|May 22, 2010
A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase geneToshiyuki Fukao, Reiko Horikawa, Yasuhiro Naiki, et al.Brain & Development|August 21, 2013
Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from IndiaRadha Rama Devi Akella, Yuka Aoyama, Chihiro Mori, et al.Orphanet Journal of Rare Diseases|June 15, 2019
The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomaliesMichio Ozeki, Akifumi Nozawa, Shiho Yasue, et al.Molecular Genetics and Metabolism|February 22, 2008
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2Yuka Yotsumoto, Yuki Hasegawa, Seiji Fukuda, et al.Pediatrics|February 25, 2016
Everolimus for Primary Intestinal Lymphangiectasia With Protein-Losing EnteropathyMichio Ozeki, Tomohiro Hori, Kaori Kanda, et al.Human Mutation|May 20, 2003
Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptideToshiyuki Fukao, Naoki Matsuo, Gai Xiu Zhang, et al.Pediatric Research|October 22, 2004
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosisToshiyuki Fukao, Haruo Shintaku, Ryou Kusubae, et al.Genes, Chromosomes & Cancer|September 24, 2005
Regulation of the Atm promoter in vivoNuri Gueven, Toshiyuki Fukao, John Luff, et al.Biochemistry|March 21, 2007
Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and functionAntti M Haapalainen, Gitte Meriläinen, Päivi L Pirilä, et al.Journal of Human Evolution|December 10, 2014
Metabolism as a tool for understanding human brain evolution: lipid energy metabolism as an exampleShu Pei Wang, Hao Yang, Jiang Wei Wu, et al.Pageof 20