(Last updated : 2024-07-24 16:27:59)
  Etou Kaoru
   Department   School of Medicine(Tokyo Women's Medical University Adachi Medical Center), School of Medicine  
   Position   Assistant Professor
■ Published papers
1. Original article  Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria 2024/06/21
2. Review article  Clinical and patlolgical manifestations and metabolism in lysosomal storage disorders 2024/05/01
3. Case report  Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus. 2023/11/08
4. Case report  Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report. 2023/05/27
5. Case report  Pain Alleviation With Enzyme Replacement Therapy in Childhood Female Fabry Disease: A Case Report 2023/04/25
Display all(19)
■ Academic conference presentation
1. Effect of treatment with miglustat ovar 10 years in a patient with late infantile onset Niemann-Pick diasease type C  2024/05/30
2. A boy with novel ACAD9 variant presenting hypertrophic cardiomyopathy, muscle weakness and exercise-intolerance  2023/05/26
3. CNS treatment of CLN2  2023/04/01
4. A case of Lamb-Shaffer Syndrome diagnosed by family awareness of vision loss  2022/06/04
5. Two cases showing a microdeletion of 5q14.3 where MEF2C is Iocated  2022/06/04
Display all(32)
■ Conference activities & talks
1. 2023/04/01 Workshop 5 Education Lecture 3; CNS treatment of CLN2 (東京)
■ Research areas
Embryonic medicine and pediatrics, Medical biochemistry, Neurology 
■ Education
1. 2001/04~2005/02 〔Doctoral course〕, Graduate School, Division of Medicine, Tokyo Women's Medical University, Completed,
2. 1995/04~2001/03 Faculty of Medicine, Tokyo Women's Medical University, Graduated,
■ Academic & professional experience
1. 2009/09~2011/08 Department of Pediatrics, University of California Los Angeles Researcher