Toshiyuki Fukao-Shigemura
Gifu-shi, 5011194, Japan
Last Updated: 09/26/2026
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Found 16 publications
Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis.
Journal: Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
Published: February 18, 2019
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
Journal: Journal of human genetics
Published: June 25, 2018
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Journal: Molecular genetics and metabolism
Published: May 24, 2017
Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.
Journal: The Journal of allergy and clinical immunology
Published: May 10, 2017
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.
Journal: Journal of inherited metabolic disease
Published: March 08, 2017
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.
Journal: Journal of inherited metabolic disease
Published: November 20, 2016
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.
Journal: JIMD reports
Published: July 28, 2016
Ketone body metabolism and its defects.
Journal: Journal of inherited metabolic disease
Published: January 01, 2014
Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Journal: Molecular genetics and metabolism
Published: June 04, 2013
CpG islands around exon 1 in the succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene are hypomethylated even in human and mouse hepatic tissues where SCOT gene expression is completely suppressed.
Journal: Molecular medicine reports
Published: April 08, 2011
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Journal: Biochimica et biophysica acta
Published: December 08, 2010
A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
Journal: Journal of inherited metabolic disease
Published: March 30, 2010
Last Updated: 09/26/2026