広島大学

Basic Information

Academic Degrees

• Hiroshima University

Affiliated Academic Societies

• Japan Pediatric Society
• The Japan Endocrine Society
• The Japanese Society for Pediatric Endocrinology
• Japanese Society for Neonatal Screening
• Japanese Society for Inherited Metabolic Diseases
• The Japan Diabetes Society

Educational Activity

Course in Charge

1. 2024, Undergraduate Education, Year, Systemic Disease Control
2. 2024, Undergraduate Education, Intensive, Practice of Medicine I
3. 2024, Undergraduate Education, 2Term, Pediatrics
4. 2024, Undergraduate Education, 2Term, Pediatrics

Research Activities

Academic Papers

1. 023 Apr 28. doi: 10.1002/jimd.12610. Online ahead of print. PMID: 37114839, 2023
   Link to Paper Search Results by DOI
2. Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants., The Journal of allergy and clinical immunology, 140(1), 2017
3. Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings, Clin Immunol, 41(5), 975-986, 2021
   Link to Paper Search Results by DOI
4. Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity., Molecular genetics and metabolism, 122(3), 2017
5. Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant., International journal of neonatal screening, 7(3), 2021
6. Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation., International journal of neonatal screening, 7(3), 2021
7. Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test., Pediatric research, 2022
8. Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan., Molecular genetics and metabolism, 118(1), 2016
9. Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation., Molecular genetics and metabolism, 119(4), 2016
10. Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report., Frontiers in genetics, 8, 2017
11. Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations., International immunology, 32(10), 2020
12. A classic variant of Fabry disease in a family with the M296I late-onset variant., CEN case reports, 10(1), 2021
13. Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ., The Journal of allergy and clinical immunology, 149(1), 2022
14. Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene., Endocrine journal, 60(1), 2013
15. Early eradication of factor VIII inhibitor in patients with congenital hemophilia A by immune tolerance induction with a high dose of immunoglobulin., International journal of hematology, 103(4), 2016
16. Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis., Haematologica, 98(10), 2013
17. Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organ., Brain pathology (Zurich, Switzerland), 27(3), 2017
18. A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation., Pediatric transplantation, 21(5), 2017
19. A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months., International journal of molecular sciences, 21(3), 2020

Invited Lecture, Oral Presentation, Poster Presentation

1. Augmentation of osteoclast formation and its function in patients with MSMD due to impaired to IFN-ɤ, Miyuki Tsumura, Mizuka Miki, Yoko Mizoguchi, Reiko Kagawa, Seiichi Hayakawa, Satoshi Okada, ESID meeting 2021, 2021/09/27, Without Invitation, Japanese, European Society for Immunodeficiencies, Web

External Funds

Acceptance Results of Competitive Funds

1. 2021, 2022
2. 2019, 2021