Rchr

J-GLOBAL ID：200901070424404272 Update date: May. 16, 2020

Tanaka Akemi

タナカアケミ | Tanaka Akemi

Affiliation and department：

Research field (2)： Fetal medicine/Pediatrics , Molecular biology

Research keywords (3)： Molecular Biology , Inborn Errors of Metabolism , Pediatrics

Research theme for competitive and other funds (7)：

先天性代謝異常症
先天性代謝異常症の遺伝子治療
先天性症謝異常症の遺伝子解析
Gine therapy
Inborn errors of metabolism

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MISC (32)：

A Tanaka, M Fujimaru, K Choeh, G Isshiki. Novel mutations including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease. JOURNAL OF HUMAN GENETICS. 1999. 44. 2. 91-95
M Fujimaru, A Tanaka, K Choeh, N Wakamatsu, H Sakuraba, G Isshiki. Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3 '-splice site selection and cause Sandhoff disease. HUMAN GENETICS. 1998. 103. 4. 462-469
Screening of mucopolysaccharidoses with urine blotted filterpaper. chondroitinase A/C digestion-DMB microplate method. 1998. 8. 29-35
T Kobayashi, Kuraoka, I, M Saijo, Y Nakatsu, A Tanaka, Y Someda, S Fukuro, K Tanaka. Mutations in the XPD gene leading to Xeroderma pigmentosum symptoms. HUMAN MUTATION. 1997. 9. 4. 322-331
Gangliosidosis. 1996. 28. 373-378

ｍore...

Books (4)：

Congenital disorders of amino acid metabolism
1997
Tay-Sachs disease
1996
GM<sub>2</sub> gangliosidosis
Methods of Clinical DNA Diagnosis 1995
GM<sub>2</sub>-gangliosidosis
1995

Works (1)：

遺伝子治療

Education (4)：

- 1981 Osaka City University
- 1981 Osaka City University Graduate School, Division of Medicine
- 1977 Osaka City University Medical School
- 1977 Osaka City University Faculty of Medicine

Professional career (2)：

Doctor of Medicine
Doctor of Medicine

Awards (2)：

1991 - 大阪市長賞
1984 - 大阪市長賞

Association Membership(s) (8)：

日本マス・スクリーニング学会 , 大阪小児科学会 , The Society for the Study of Inborn Errors of Metabolism , 日本結合組織学会 , 日本人類遺伝学会 , 日本小児神経学会 , 日本先天代謝異常学会 , 日本小児科学会

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