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Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome.
Kuhara T, Ohse M, Inoue Y, Shinka T. Kuhara T, et al. Among authors: ohse m. J Mass Spectrom. 2009 Feb;44(2):214-21. doi: 10.1002/jms.1500. J Mass Spectrom. 2009. PMID: 18853477
Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease.
Kuhara T, Shinka T, Inoue Y, Ohse M, Zhen-wei X, Yoshida I, Inokuchi T, Yamaguchi S, Takayanagi M, Matsumoto I. Kuhara T, et al. Among authors: ohse m. J Chromatogr B Biomed Sci Appl. 1999 Aug 6;731(1):141-7. doi: 10.1016/s0378-4347(99)00205-4. J Chromatogr B Biomed Sci Appl. 1999. PMID: 10492000
Differential diagnosis of homocystinuria by urease treatment, isotope dilution and gas chromatography-mass spectrometry.
Kuhara T, Ohse M, Ohdoi C, Ishida S. Kuhara T, et al. Among authors: ohse m. J Chromatogr B Biomed Sci Appl. 2000 May 26;742(1):59-70. doi: 10.1016/s0378-4347(00)00112-2. J Chromatogr B Biomed Sci Appl. 2000. PMID: 10892584
Simple gas chromatographic-mass spectrometric procedure for diagnosing pyrimidine degradation defects for prevention of severe anticancer side effects.
Kuhara T, Ohdoi C, Ohse M. Kuhara T, et al. Among authors: ohse m. J Chromatogr B Biomed Sci Appl. 2001 Jul 5;758(1):61-74. doi: 10.1016/s0378-4347(01)00143-8. J Chromatogr B Biomed Sci Appl. 2001. PMID: 11482736
Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples.
Kuhara T, Ohse M, Inoue Y, Yorifuji T, Sakura N, Mitsubuchi H, Endo F, Ishimatu J. Kuhara T, et al. Among authors: ohse m. J Inherit Metab Dis. 2002 May;25(2):98-106. doi: 10.1023/a:1015620609075. J Inherit Metab Dis. 2002. PMID: 12118533
Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.
Shinka T, Inoue Y, Ohse M, Ito A, Ohfu M, Hirose S, Kuhara T. Shinka T, et al. Among authors: ohse m. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Aug 25;776(1):57-63. doi: 10.1016/s1570-0232(02)00126-5. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 12127325
Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine.
Ohse M, Matsuo M, Ishida A, Kuhara T. Ohse M, et al. J Mass Spectrom. 2002 Sep;37(9):954-62. doi: 10.1002/jms.354. J Mass Spectrom. 2002. PMID: 12271438 Clinical Trial.
Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency.
Kuhara T, Ohdoi C, Ohse M, van Kuilenburg AB, van Gennip AH, Sumi S, Ito T, Wada Y, Matsumoto I. Kuhara T, et al. Among authors: ohse m. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15;792(1):107-15. doi: 10.1016/s1570-0232(03)00044-8. J Chromatogr B Analyt Technol Biomed Life Sci. 2003. PMID: 12829003
Differential chemical diagnosis of primary hyperoxaluria type II. Highly sensitive analysis of optical isomers of glyceric acid by GC/MS as diastereoisomeric derivatives.
Inoue Y, Shinka T, Ohse M, Kuhara T. Inoue Y, et al. Among authors: ohse m. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 25;823(1):2-6. doi: 10.1016/j.jchromb.2005.03.036. Epub 2005 Apr 25. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 16055048
Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I.
Shinka T, Ohse M, Inoue Y, Kuhara T. Shinka T, et al. Among authors: ohse m. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 25;823(1):44-6. doi: 10.1016/j.jchromb.2005.02.002. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 16055052
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