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衞藤 薫
Department School of Medicine(Tokyo Women's Medical University Adachi Medical Center), School of Medicine Position Assistant Professor |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation |
| Journal | Formal name：Journal of inherited metabolic disease Abbreviation：J Inherit Metab Dis ISSN code：01418955/15732665 |
| Volume, Issue, Page | 37,pp.801-812 |
| Author and coauthor | Nakajima Yoko, Meijer Judith & Dobritzsch Doreen, Ito Tetsuya, Meinsma Rutger, Abeling Nico G.G.M, Roelofsen Jeroen, Zoetekouw Lida, Watanabe Yoriko, Tashiro Kyoko, Lee Tomoko, Takeshima Yasuhiro, Mitsubuchi Hiroshi, Yoneyama Akira, Ohta Kazuhide, Eto Kaoru, Saito Kayoko, Kuhara Tomiko, van Kuilenburg Andre B.P. |
| Publication date | 2014/02 |
| DOI | 10.1007/s10545-014-9682-y |