GC/MS法による新生児代謝異常マススクリーニングで発症前に発見されたオリニチトランスカルバミラーゼ欠損症の1例

IGUCHI TAKAHIRO; YOSHIDA ICHIRO; TASHIRO KYOKO; AOKI KUMIKO; AKITA YUKIHIRO; TOKUNAGA YASUYUKI; KOGA YASUTOSHI; YOSHINO MAKOTO; TANAKA MASATOSHI

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J-GLOBAL ID：200902170472155320 Reference number：02A0182291

GC/MS法による新生児代謝異常マススクリーニングで発症前に発見されたオリニチトランスカルバミラーゼ欠損症の1例

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Material：
Volume： 17 Issue： 1 Page： 48-52 Publication year： Jul. 01, 2001
JST Material Number： X0006A ISSN： 0912-0122 Document type： Article
Article type：原著論文 Country of issue： Japan (JPN) Language： JAPANESE (JA)

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Metabolic diseases,nutritional diseases in general. , Congenital diseases,deformities in general.

Reference (15)：

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SHIGEMATSU, Y. Modifications in electrospray tandem mass spectrometry for a neonatal-screening pilot study in Japan. J. Chromatogr. B. 1999, 731, 97-103
MATSUMOTO, I. A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis. Mass Spectrom. Rev. 1996, 15, 43-57

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