Faculty Information - KATOU Tamaki

（Last updated : 2025-08-25 10:39:36）

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

Position Assistant Professor

■ Published papers

1.	Original article	Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment 2025/10
2.	Original article	Centralized rapid genetic diagnosis of combined immunodeficiency in Japan 2025/06/03
3.	Original article	Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development. 2025/02/28
4.	Original article	Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study 2025/02/07
5.	Original article	CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis. 2023
6.	Original article	Epidemiological investigation of spinal muscular atrophy in Japan. 2022/01
7.	Original article	Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia. 2021/06
8.	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
9.	Original article	An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy 2021
10.	Original article	A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency. 2019/05
11.	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
12.	Original article	Clinical and Immunological Characterization of ICF Syndrome in Japan. 2018/11
13.	Original article	Transient Marked Increase of γδ T Cells in WHIM Syndrome After Successful HSCT. 2018/07
14.	Original article	Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. 2016/12
15.	Original article	Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome. 2016/11
16.	Original article	Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism. 2015/10
17.	Original article	RAG1 deficiency may present clinically as selective IgA deficiency. 2015/04
18.	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- （Speech，General） 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 （Poster notice，General） 2023/10/13
3.	Patient registry system for new treatment choice and newborn screening follow-up in spinal muscular atrophy （Poster notice，General） 2023/10/13

■ Research areas

Medical biochemistry, Embryonic medicine and pediatrics

■ Education

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