Faculty - AOYAMA Yuka |

AOYAMA Yuka

Department / Course College of Life and Health Sciences Department of Clinical Engineering

Graduate School of Life and Health Sciences Department of Biomedical Sciences

Office for the Coordination of Clinical Practicums Center for Clinical Engineering Practicum Support

Division of Academic Support

School of General Education Professional Education Program

Job Associate Professor

Academic conference presentation
2019/10/24	Enzyme activity assays of HSD10 disease using HSD17B10 protein (第61回日本先天代謝異常学会)
2019/09	HMGCS2 deficiency in Japan: Characterization of wild-type and 5 variant proteins in vitro.
2018/11/10	乳児期の3ヒドロキシ酪酸脱水素酵素(Bdh1)KOマウスにおける絶食負荷試験
2018/09	Functional analysis of mutant recombinant HSD17B10 proteins using an E. Coli expression system (Annual Symposium of the Society for the Study of Inborn Errors of Metabolism)
2017/11	Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis (Asia-Pacific Conference on Human Genetics)
2017/09	Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis (International Congress of Inborn Errors of Metabolism)
2017/09	Insufficient Ketogenesis in 3-hydroxybutyrate Dehydrogenase (Bdh1) KO Mice in Fasting Test (13th the International Congress of Inborn Errors of Metabolism)
2017	Pathophysiology of 3-Hydroxybutyrate Dehydrogenase (3HBD) deficiency in Ketone Body Metabolism using a Bdh1 Knockout Mouse Model (International Congress of Inborn Errors of Metabolism)
2016/10/27	Clinical and mutational characterizations of 10 Indian patients with beta-ketothiolase deficiency
2016/09/06	An c. IVS9-9 T >A substitution identified in beta-ketothiolase deficient patients results in exon 10 skipping in most transcripts of ACAT1 gene (Annual symposium of the society for the study of inborn errors of metabolism)
2016/09/06	Oral glucose tolerance tests in Japanese citrin-deficient siblings before and after MCT-oil supplementation (Annual symposium of the society for the study of inborn errors of metabolism)
2015/09/01	First two patients with mitochondrial HMG-CoA synthase deficiency in Asia (Annual symposium of the society for the study of inborn erroros of metabolism)
2015/09/01	OXCT1 heterozygous carriers could develop severe ketoacidotic episodes in conjunction with ketogenic stresses (Annual symposium of the society for the study of inborn errors of metabolism)
2015/09/01	Two patients with atypical form and one with infantile form of HSD10 disease were identified in Japan (Annual symposium of the society for the study of inborn erroros of metabolism)
2014/11/15	Development of MLPA for HMGCL gene and identification of UPD in patient with HMGCL deficiency
2014/09	Alu elements insertions into intron 9 affect exon 10 recognition with a suboptimal splice acceptor site in human ACAT1 gene (Annual symposium of the society for the study of inborn errors of metabolism)
2013/11/29	The first case of HSD10 (2-Methyl-3-Hydroxybutyryl-CoA dehydrogenase deficiency)from Asia (The 3rd Asian Congress for Inherited Metabolic Diseases / The 55th Annual meeting of the Japanese Society for Inherited Metabolic Diseases.)
2013/11/27	Development of MLPA and identification of a heterozygous alu-associated deletion including exons 2-4 in a patient with HMGCL deficiency (The 3rd Asian Congress for Inherited Metabolic Diseases / The 55th Annual meeting of the Japanese Society for Inherited Metabolic Diseases.)