Faculty Information - Katou Tamaki

（Last updated : 2024-08-29 09:59:08）

Katou Tamaki
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine

Position Assistant Professor

■ Published papers

1.	Original article	CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis. 2023
2.	Original article	Epidemiological investigation of spinal muscular atrophy in Japan. 2022/01
3.	Original article	Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia. 2021/06
4.	Original article	Axonal damage and behavioral deficits in rats with repetitive exposure of the brain to laser-induced shock waves: Effects of inter-exposure time. 2021/02
5.	Original article	An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy 2021
6.	Original article	A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency. 2019/05
7.	Original article	Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1. 2019/01
8.	Original article	Clinical and Immunological Characterization of ICF Syndrome in Japan. 2018/11
9.	Original article	Transient Marked Increase of γδ T Cells in WHIM Syndrome After Successful HSCT. 2018/07
10.	Original article	Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. 2016/12
11.	Original article	Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome. 2016/11
12.	Original article	Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism. 2015/10
13.	Original article	RAG1 deficiency may present clinically as selective IgA deficiency. 2015/04
14.	Review article	Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia. 2013/04
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■ Academic conference presentation

1.	Importance of rapid genetic testing after positive SMA-NBS test - Aiming for a system to start treatment as soon as possible- 2024/08/23
2.	Investigation of the clinical course of SMN2 gene 4-copy cases: In relation to the "4-copy problem" in newborn screening 2023/10/13
3.	Patient registry system for new treatment choice and newborn screening follow-up in spinal muscular atrophy 2023/10/13

■ Research areas

Medical biochemistry, Embryonic medicine and pediatrics

■ Education

1.	2011/10～2015/09	〔Doctoral course〕, Graduate School, Division of Medical Sciences, National Defense Medical College, Completed,
2.	1997/04～2003/03	National Defense Medical College, Graduated