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1            T. Saheki, K. Inoue, H. Ono, A. Tushima, N. Katsura, M. Yokogawa, Y. Yoshidumi, T. Kuhara, M. Ohse, K. Eto, T. Kadowaki, D.S. Sinasac, K. Kobayashi: Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency. Mol. Genet. Metab. (in press)

2            T. Kuhara, M. Ohse, Y. Inoue, A.J.L. Cooper: A GC/MS-based metabolomic approach for diagnosing citrin deficiency. Anal. Bioanal. Chem. 400: 1881-1894 (2011)

3            T. Kuhara, Y. Inoue, M. Ohse, B.F. Krasnikov, A.J.L. Cooper: Urinary 2-hydroxy-5-oxoproline, the lactam form of $B&A(B-ketoglutaramate, is markedly increased in urea cycle disorders. Anal. Bioanal. Chem. 400: 1843-1851 (2011)

4            Y. Inoue, M. Ohse: Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry. Anal Bioanal Chem. 400: 1953-1958 (2011)

5            $B5W86$H$_;R(B: $B%?%s%G%`%^%9%9%/%j!<%K%s%0$K$*$1$k(BGC/MS$B$K$h$k?GCG%5%]!<%H(B. $BF|K\@hE7Beo3X2q;(;o(B 26: 39-42 (2010)

6            $B5W86$H$_;R(B: GC/MS-$B%a%?%\%m%_%/%9$NNW>22=3X$X$N1~MQ(B. $BNW>22=3X(B 39: 166-174 (2010)

7            T. Kuhara, M. Ohse, Y. Inoue, T. Shinka, Y. Okano, H. Shintaku, K. Hongou, T. Miyawaki, W. Morinobu, H. Tamai, K. Omura: Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication. Rapid Commun. Mass Spectrom. 23: 3167-3172 (2009)

8            $B5HED6U;K!"5W86$H$_;R!"5FCO=_(B: $B%a%?%\%m%_%/%9$H%a%?%\%N%_%/%9(B. $B$V$s$;$-(B 2009$BG/(B7$B7n9f(B: 371-378 (2009)

9            T. Kimura, K. Yasuda, Y. Obi, K. Kobayashi, T. Kuhara, Y. Isaka, E. Imai, H. Rakugi, T. Hayashi: Worsening kidney function with a history of urolithiasis. Am. J. Kidney Dis. 53: 37-39 (2009)

10        T. Kuhara, M. Ohse, Y. Inoue, T. Shinka: Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome. J. Mass Spectrom. 44: 214-221 (2009)

11        $B?72HIR90!"Bg@%e5A?M!"JR2,5~;R!"6aF#M[0l!"5W86$H$_;R(B: GC/MS$BJ,@O$K$h$kK\K.NcCf:?%"%7%k(BCoA$BC&?eAG9ZAG7gB;>I45MCT$B%_%k%/@]. $B6b0eBg;o(B 33: 112-116 (2008)

12        $B5W86$H$_;R(B: $BJ?@.(B19$BG/EY(BGC/MS$B$K$h$k2=3X?GCG$N@:EY4IM}Js9p(B. JSBMS Letters 33: 13-15 (2008)

13        P. Wasant, S. Liammongkolkul, C. Kuptanon, N. Vatanavicharn, A. Sathienkijakanchai, T. Shinka: Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience. Clin. Chim. Acta. 392: 63-68 (2008)

14        Y. Inoue, M. Ohse, T. Shinka, T. Kuhara: Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS. J. Chromatogr. B. 870: 160-163 (2008)

15        $B5W86$H$_;R(B: $BG"(BGC/MS$BJ,@O$K$h$k@hE7@-Beo>I$N%9%/%j!<%K%s%0$H2=3X?GCG(B. $B:YK&9)3XJL:}!!:G?7%W%m%F%*%_%/%9!&%a%?%\%m%_%/%9!]: 157-165 (2007)

16        $B?72HIR90!"0f>e5A?M!"Bg@%: $BG"CfN2;@Jz9gC@=A;@$N(BESIMS$BB,Dj$K$h$kC@=A$&$CBZ4J0W8!:wK!(B. $BF|K\%^%9!&%9%/%j!<%K%s%03X2q;o(B 17: 35-42 (2007)

17        T. Kuhara: Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism. J. Chromatogr. B. 855: 42-50 (2007)

18        T. Shinka, Y. Inoue, M. Ohse, T. Kuhara: Simple and quantitative analysis of urinary sulfated tauro- and glycodihydroxycholic acids in infant with cholestasis by electrospray ionization mass spectrometry.

 J. Chromatogr. B. 855: 104-108 (2007)

19        Y. Inoue, T. Shinka, M. Ohse, M. Kohno, K. Konuma, H. Ikawa, T. Kuhara: Changes in urinary level and configuration ratio of d-lactic acid in patients with short bowel syndrome.

 J. Chromatogr. B. 855: 109-114 (2007)

20        $B5W86$H$_;R(B: $B. $BF|K\0eMQ%^%9%9%Z%/%H%k3X2q%5!<%-%e%i!<(B 67: 4-6 (2006)

21        $B?72HIR90(B: $B4N?U7?%A%m%7%s>I$H(BGC/MS. $BF|K\0eMQ%^%9%9%Z%/%H%k3X2q%5!<%-%e%i!<(B 66: 10-13 (2006)

22        S. Liammongkolkul, P. Wasant, T. Shinka, T. Kuhara, I. Matsumoto: Tyrosinemia type I in Thailand - A report of 4 cases. $BF|K\@hE7Beo3X2q;(;o(B22: 56-58 (2006)

23        $B0f>e5A?M(B: Canavan$BIB$N2=3X?GCG(B. $B?@7PFb2J(B 65: 427-431 (2006)

24        $B5W86$H$_;R(B: $B?GCG$H8DJL2=0eNE$N$?$a$NHs?/=1E*%R%H%a%?%\%m!<%`2r@O(B. $B:YK&9)3X(B 25: 1404-1409 (2006)

25        Y. Inoue, T. Shinka, M. Ohse, H. Ikawa, T. Kuhara: Application of optical isomer analysis by diastereomer derivatization GC/MS to determine the condition of patients with short bowel syndrome. J. Chromatogr. B. 838: 37-42 (2006)

26        $B5W86$H$_;R!"Bg@%e5A?M!"?72HIR90!"E/2'@5Gn(B: $BG"$N%a%?%\%m!<%`2r@OK!$K$h$k?7@8;y%^%9%9%/%j!<%K%s%0;n838&5f$H%F%$%i!<%a%$%I0eNE(B. $B6b0eBg;o(B 30: 543-550 (2005)

27        $B?72HIR90!"0f>e5A?M!"Bg@%: $B$m;f5[CeG"(B GC/MS $BJ,@O$K$h$k%A%m%7%s>I(B I $B7?$N2=3X?GCG(B. $BF|%^%9!&%9%/%j!<%K%s%02q;o(B 15: 55-61 (2005)

28        Y. Kato, K. Ihara, K. Miyako, T. Kuhara, Y. Inoue, T. Hara: Acute encephalopathy associated with influenza virus infection in a patient with hyperprolinaemia type II. J. Inherit. Metab. Dis. 28: 789-790 (2005)

29        T. Shinka, M. Ohse, Y. Inoue, T. Kuhara: Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I. J. Chromatogr. B. 823: 44-46 (2005)

30        Y. Inoue, T. Shinka, M. Ohse, T. Kuhara: Differential chemical diagnosis of primary hyperoxaluria type II Highly sensitive analysis of optical isomers of glyceric acid by GC/MS as diastereoisomeric derivatives. J. Chromatogr. B. 823: 2-6 (2005)

31        W. Fujimoto, M. Inaoki, T. Fukui, Y. Inoue, T. Kuhara: Biotin Deficiency in an Infant Fed with Amino Acid Formula. J. Dermatol. 32(4): 256-261 (2005)

32        T. Kuhara: Gas chromatographic-mass spectrometric urinary metabolome analysis to study mutations of inborn errors of metabolism. Mass Spectrom. Rev. 24: 814-827 (2005)

33        Y. Inoue, T. Kuhara: Rapid and sensitive screening for and chemical diagnosis of Canavan disease by gas chromatography-mass spectrometry. J. Chromatogr. B. 806: 33-39 (2004)

34        T. Shinka, T. Kuhara: Quantification of urinary 5-aminolevulinic acid by gas chromatography-mass spectrometry. J. Chromatogr. B. 806: 19-23 (2004)

35        C. Ohdoi, W.L. Nyhan, T. Kuhara: Chemical diagnosis of Lesch-nyhan syndrome using gas chromatography and mass spectormetric detection. J. Chromatogr. B. 792: 123-130 (2003)

36        T. Kuhara, C. Ohdoi, M. Ohse, A.B.P. van Kuilenburg, A.H. van Gennip, S. Sumi, T. Ito, Y. Wada, I. Matsumoto: Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. J. Chromatogr. B. 792: 107-115 (2003)

37        T. Shinka, M. Ohfu, S. Hirose, T. Kuhara: Effect of valproic acid on the urinarry metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency. J. Chromatogr. B. 792: 99-106 (2003)

38        Y. Inoue, H. Masuyama, H. Ikawa, H. Mitsubuchi, T. Kuhara: A monitaring method for pre- and post-liver transplantation in patients with primary hyperoxaluria type I. J. Chromatogr. B. 792: 89-97 (2003)

39        T. Kuhara: Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. J. Chromatogr. B. 781: 497-517 (2002)

40        T. Yorifuji, M. Kawai, J. Muroi, M. Mamada, K. Kurokawa, Y. Shigematsu, S. Hirano, N. Sakura, I. Yoshida, T. Kuhara, F. Endo, H. Mitsubuchi, T. Nakahata: Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Hum. Genet. 111(2): 161-165 (2002)

41        M. Ohse, M. Matsuo, A. Ishida, T. Kuhara: Screening and diagnosis of b-ureidopropionase deficiency by gas chromatographic mass spectrometric analysis of urine. J. Mass Spectrom., 37: 954-962 (2002)

42        T. Shinka, Y. Inoue, M. Yoshino, H. Kakinuma, H. Takahashi, T. Kuhara: Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening. J. Chromatogr. B. 776: 65-70 (2002)

43        T. Shinka, Y. Inoue, M. Ohse, A. Ito, M. Ohfu, S. Hirose, T. Kuhara: 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. J. Chromatogr. B. 776: 57-63 (2002)

44        Y. Inoue, T. Kuhara: Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment. J. Chromatogr. B. 776:71-77 (2002)

45        T. Kuhara, M. Ohse, Y. Inoue, T. Yorifuji, N. Sakura, H. Mitsubuchi, F. Endo, J. Ishimatu: Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples. J. Inherit. Metab. Dis. 25: 98-106 (2002)

46        T. Kuhara: Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry. J. Chromatogr. B, 758: 3-25 (2001)

47        T. Kuhara, C. Ohdoi, M.Ohse: A simple gas chromatographic-mass spectrometric procedure for diagnosing pyrimidine degradation defects for prevention of severe anticancer side effects. J. Chromatogr. B. 758: 61-74. (2001)

48        T. Miyamoto, N. Kanazawa, S. Kato, M. Kawakami, Y. Inoue, T. Kuhara, T. Inoue, K. Takeshita, S. Tsujino: Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. J. Hum. Genet. 46: 260-262 (2001)

49        S. Ishida, H. Isotani, K. Furukawa, T. Kuhara: Homocystinuria due to cystathionine b-synthase deficiency associated with megaloblastic anaemia. J. Int. Med. 250: 453-456 (2001)

50        $B@PED;VLg!"0kC+<#I'!"8E@n7C;0!"5W86$H$_;R(B:$B5p@V2j5e@-IO7l$r9gJ;$7$?%[%b%7%9%A%sG">I$N#1Nc(B.$BF|K\Fb2J3X2q;(;o(B 89(12): 2528-2530 (2000)

51        T. Kuhara, M. Ohse, C. Ohdoi, S. Ishida: Differential Diagnosis of Homocystinuria by Urease-treatment, isotope-dilution and gas chromatography-mass spectrometry. J. Chromatogr. B, 742: 59-70 (2000)

52        $B5W86$H$_;R(B: $B-$B?7$7$$NW>28!::$X$NE83+(B $BM-5!;@$NBeo(B-. $BNW>28!::(B44(1): 57-67 (2000)

53        $B1:_7NSB@O:!"K'2lF`=o;R!"4dGHMxOB!"5WJ]E0IW!":#0f.5\;3=_!"?72HIR90!"5W86$H$_;R!"?: $B5^7c$J0U<1>c32$GH/>I$7$?(Bb-$B%1%H%A%*%i!<%<7gB;>I$N#1F};yNc(B. $BF|>.;y2q;o(B 103(8): 849-852 (1999)

54        H. Peng, T. Shinka, Y. Inoue, H. Mitsubuchi, J. Ishimatsu, M. Yoshino, T. Kuhara: Asymptomatic a-ketoadipic aciduria detected during a pilot study of neonatal urine screening. Acta Paediatr. 88: 911-914 (1999)

55        T. Kuhara, T. Shinka, Y. Inoue, Z. Xia, M. Ohse, I. Yoshida, T. Inokuchi, S. Yamaguchi, M. Takayanagi, I. Matsumoto: Pilot study of gaschromatography-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease. J. Chromatogr. B, 731: 141-147 (1999)

56        T. Shinka, Y. Inoue, H. Peng, Z. Xia, M. Ohse, T. Kuhara: Urine screening of five-day-old newborns: metabolic profiling of neonatal galactosuria. J. Chromatogr. B, 732: 469-477 (1999)

57        T. Kuhara: Application of Chemical Diagnostic Procedure using Urease Treatment of Urine and GC/MS Techniques to Neonatal Mass Screening. Ann. Report of Med. Res. Inst, Kanazawa Med.Univ. 10: 40-52 (1999)

58        T. Kuhara, H. Peng, T. Shinka, Y. Inoue, M. Yoshino, I. Matsumoto: Asymptomatic cases with inborn errors of metabolism found during pilot study in Japan: 1. a-Ketoadipic aciduria. Ann. Report of Med. Res. Inst, Kanazawa Med.Univ. 9: 79-88 (1998)

59        T. Kuhara, T. Shinka, Y. Inoue, M. Matsumoto, C. Zhang, C. Ning, T. Fukumoto, I. Matsumoto: A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry - Rapid, practical, simultaneous urinary metabolites analysis -. The Proceedings of the Third International Society for Neonatal Screening, pp. 123 (1998)

60        H. Miyajima, KE. Orii, Y. Shindo, T. Hashimoto, T. Shinka, T. Kuhara, I. Matsumoto, H. Shimizu, E. Kaneko: Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. Neurology 49: 833-837 (1997)

61        L. Suzuki, S. Kobayashi, K. Kawamura, T. Kuhara, R. Tsugawa: Family study of 2, 8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0). Int. J. Urol 4: 304-306 (1997)

62        K. Ihara, R. Kuromaru, Y. Inoue, T. Kuhara, I. Matsumoto, M. Yoshino, J. Fukushige: An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease. Eur. J. Pediatr. 156: 713-715 (1997)

63        I. Matsumoto, H. Ogawa, R. Maeyama, K. Okudaira, T. Shinka, T. Kuhara, I. Matsumoto: Successful treatment by direct hemoperfusion of coma possibly rsulting from mitochondrial dysfunction of acute valproate intoxication. Epilepsia 38 (8): 950-953 (1997)

64        C. Ning, T. Kuhara, I. Matsumoto: Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debre syndrome by GC/MS. Clin. Chim. Acta 247: 197-200 (1996)

65        T. Fukao, A. Kodama, N. Aoyanagi, R. Tsukino, S. Uemura, X-Q. Song, T. Kuhara, I. Matsumoto, T. Orii, N. Kondo: Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: Identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. Clin. Genetics 50: 263-266 (1996)

66        C. Ning, T. Kuhara, Y. Inoue, C. Zhang, M. Matsumoto, T. Shinka, T. Furumoto, K. Yokota, I. Matsumoto: Gas chromatographic-mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy - de Toni-Fanconi-Debre syndrome. Acta Paediatr. Jpn. 38: 661-666 (1996)

67        I. Matsumoto, T. Kuhara: A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry. Mass Spectrom. Rev. Vol. 15 No. 1: 43-57 (1996$B!K(B

68        T. Shinka, T. Kuhara, Y. Inoue, M. Matsumoto, I. Matsumoto, H. Nakamura, H. Irimichi, K. Hasumi, A. Endo: GC/MS Analysis of Urine in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Acta Paediatr. Jpn. 34 (2): 157-165 (1992)

69        T. Kuhara, I. Matsumoto, K. Saiki, H. Takabayashi, S. Kuwabara: 3-Methylglutaconic Aciduria in Two Adults. Clin. Chim. Acta, 207: 151-153 (1992)

70        Y. Inoue, T. Ohkura, I. Matsumoto, P. J. Rudewicz: Fast Atom Bombardment Tandem Mass Spectrometric Analysis of N-Carbamoylamino Acids. Biol. Mass Spectrom. 20: 593-601 (1991)

71        M. Matsumoto, T. Kuhara, Y. Inoue, T. Shinka, I. Matsumoto: Abnormal Fatty Acid Metabolism in Patients in Hopantenate Therapy During Clinical Episodes. J. Chromatogr. 562: 139-145 (1991)

72        Y. Inoue, T. Ohkura, M. Matsumoto, T. Shinka, T. Kuhara, I. Matsumoto, P. J. Rudewicz: Fast Atom Bombardment and Tandem Mass Spectrometry of N-Carbamoylamino Acids in Urine from Patients with Urea Cycle Disorders. Anal. Chim. Acta 241: 273-280 (1990)

73        W. M. Yu, T. Kuhara, Y. Inoue, I. Matsumoto, R. Iwasaki, S. Morimoto: Increased Urinary Excretion of b-Hydroxyisovaleric Acid in Ketotic and Nonketotic Type II Diabetes Mellitus. Clin. Chim. Acta 188 (2): 161-168 (1990)

74        M. Matsumoto, I. Matsumoto, T. Shinka, T. Kuhara, H. Imamura, S. Shimano, T. Okada: Organic Acid and Acylcarnitine Profiles of Glutaric Aciduria Type I. Acta Pediatr. Jpn 32 (1): 76-82 (1990)

75        M. Matsumoto, T. Kuhara, Y. Inoue, T. Shinka, I. Matsumoto, M. Kajita: Mass Spectrometric Identification of 2-Hydroxydodecanedioic Acid and Its Homologues in Urine from Patients with Hopantenate Therapy During Clinical Episode. Biomed. Environ. Mass Spectrom. 19 (3): 171-175 (1990)

76        T. Kuhara, Y. Inoue, M. Matsumoto, T. Shinka, I. Matsumoto, N. Kawahara, N. Sakura: Markedly Increased $B&X(B-Oxidation of Valproate in Fulminant Hepatic Failure. Epilepsia 31 (2): 214-217 (1990)

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1        $B5W86$H$_;R(B: GC/MS$B$rMQ$$$k%a%?%\%m%_%/%9$N2=3X?GCG!$8DJL2=0eNE!$2=3XJ*2A$X$N1~MQ(B. $B!V0dEA;R0e3X(BMOOK16$B9f!!%a%?%\%m%_%/%9!'$=$N2r@O5;=Q$HNW>2!&AOLt1~MQ8&5f$N:GA0@~!WJT, $B%a%G%#%+%k%I%%(B, $BBg:e(B, pp203-208 (2010)

2        $B5W86$H$_;R(B: $B?GCG$H8DJL2=0eNE$N$?$a$NHs?/=1E*%R%H%a%?%\%m%_%/%9(B. $B!V%a%?%\%m%_%/%9$N@hC<5;=Q$H1~MQ!W4F=$!'J!:j1Q0lO:(B, $B%7!<%(%`%7!<=PHG(B, pp. 225-238 (2008)

3        T. Kuhara: Simultaneous diagnosis of inborn errors of purine & pyrimidine metabolism–Mass spectrometric metabolome analysis. Y. Moriwaki (ed), Genetic Errors Associated with Purine and Pyrimidine Metabolism in Humans: Diagnosis and Treatment, Research Signpost, India, pp. 173-196 (2006)

4        T. Kuhara: Metabolome Profiling of Human Urine with Capillary Gas Chromatography/Mass Spectrometry (pp. 53-74). Chemical Diagnosis of Inborn Errors of Metabolism and Metabolome Analysis of Urine by Capillary Gas Chromatography/Mass Spectrometry (pp. 167-192). M. Tomita and T. Nishioka (eds), Metabolomics-The Frontier of Systems Biology, Springer-Verlag Tokyo, (2005)

5        $B5W86$H$_;R(B: GC-MS$B$K$h$k%a%?%\%m!<%`B,DjK!(B (pp. 47-58). $B%a%?%\%m!<%`2r@O$K$h$k@hE7@-Beo?GCG(B (pp. 153-165). $B!V%a%?%\%m!<%`8&5f$N:GA0@~!WJT!(B, $B@>2,9'L@(B, $B%7%e%W%j%s%,!, (2003)

6        Guest Editors: T. Suzuki, T. Niwa, I. Matsumoto: Journal of Chromatography B. Biomedical Science and Applications (24th Annual Meeting of the Japanese Society of Biomedical Mass Spectrometry Hyogo, Japan, 23-25 September 1999) Vol. 746(1), Elsevier Science (2000)

7        Guest Editors: T. Kuhara, T. Niwa, I. Matsumoto: Journal of Chromatography B. Biomedical Science and Applications (23rd Annual Meeting of the Japanese Society of Biomedical Mass Spectrometry Kanazawa, Japan, 24-26 September 1998) Vol. 731(1), Elsevier Science (1999)

8        $B5W86$H$_;R!'I{:nMQ$H$=$N9nI~!!%P%k%W%m;@$NBe No. 3$B!WJT (1996)

9        $B4F=$!'>>K\M&!":d85@50l!!JT22=3X?GCG3X!W%=%U%H%5%$%(%s%9 (1995)

10    Editors: I. Matsumoto, T. Kuhara, Orval A. Mamer, Lawrence Sweetman, R. Glen Calderhead: Advances in Chemical Diagnosis and Treatment of Metabolic Disorders. Vol. 2, 1994 Kanazawa Medical University Press (1994)

11    I. Matsumoto, T. Kuhara      Inborn Errors of Amino Acid and Organic Acid Metabolism: Clinical Mass Spectrometry, Volume 1: Clinical and Biomedical Applications, D.M. Desiderio (ed), Plenum Press, New York, pp. 259-298 (1993)

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1        $B5W86$H$_;R(B, $BBg@%, $B0f>e5A?M(B$B!'6bBt0e2JBg3X$N$m;fG"$K$h$k?7@8;y%^%9%9%/%j!<%K%s%0;n838&5f!]2=3X?GCG$+$i%b%K%?%j%s%0$^$G!](B. $B8|@8O+F/2J3X8&5fHqJd=u6b!J;R$I$b2HDmAm9g8&5f;v6H!K$o$,9q$N(B21$B@$5*$K$*$1$k?7@8;y%^%9%9%/%j!<%K%s%0$N$"$jJ}$K4X$9$k8&5f!!J?@.(B18$BG/EYAm3g!&J,C48&5fJs9p=q(B pp50-54, (2007)

2        $B5W86$H$_;R(B, $BBg@%, $B0f>e5A?M(B, $B?72HIR90(B, $BE/2'@5Gn!'G"%a%?%\%m!<%`2r@O$K$h$k?7@8;y%9%/%j!<%K%s%0;n838&5f$H?WB.2=3X?GCG(B.$B!!8|@8O+F/2J3X8&5fHqJd=u6b!J;R$I$b2HDmAm9g8&5f;v6H!K$o$,9q$N(B21$B@$5*$K$*$1$k?7@8;y%^%9%9%/%j!<%K%s%0$N$"$jJ}$K4X$9$k8&5f!!J?@.(B17$BG/EYAm3g!&J,C48&5fJs9p=q(B pp52-56, (2006)

3        $B5W86$H$_;R(B, $BBg@%, $B0f>e5A?M(B, $B?72HIR90(B, $BE/2'@5Gn!'G"$N%a%?%\%m!<%`2r@O$K$h$k?7@8;y%^%9%9%/%j!<%K%s%0;n838&5f(B.$B!!8|@8O+F/2J3X8&5fHqJd=u6b!J;R$I$b2HDmAm9g8&5f;v6H!K$o$,9q$N(B21$B@$5*$K$*$1$k?7@8;y%^%9%9%/%j!<%K%s%0$N$"$jJ}$K4X$9$k8&5f!!J?@.(B16$BG/EYAm3g!&J,C48&5fJs9p=q(B pp49-51, (2005)

4        $B5W86$H$_;R!'@hE7Beo$rM-$9$k;y$KBP$9$k3NDj?GCG$N?WB.2=$X$NJ}N,(B.$B!!J?@.(B15$BG/EY8|@8O+F/>J@.0i0eNE8&5f0QBw;v6H!!8&5fJs9p=8!J9qN)@.0i0eNE%;%s%?! pp181-183, (2004)

5        $B5W86$H$_;R!'@hE7Beo$rM-$9$k;y$KBP$9$k3NDj?GCG$N?WB.2=$X$NJ}N,(B.$B!!8|@8O+F/>J!&@.0i0eNE8&5f0QBw;v6H!!=E>I>c32?7@8;y0eNE$N%,%$%I%i%$%s$H%O%$%j%9%/?7@8;y$N?GCG%7%9%F%`$K4X$9$kAm9gE*8&5f!!J?@.(B15$BG/EY8&5fJs9p=q(B pp131-140, (2004)

6        $B5W86$H$_;R!'G"%a%?%\%m!<%`2r@O$K$h$k?WB.2=3X?GCG$H?7@8;y%9%/%j!<%K%s%0;n838&5f(B. $B8|@8O+F/2J3X8&5f!JFq<#@-<@459nI~8&5f;v6H!K!J%^%9%9%/%j!<%K%s%0J}K!$*$h$S?7$7$$BP>]<@45$K4X$9$k8&5f!KJ?@.(B15$BG/EY8&5fJs9p=q(B pp85-86, (2004)

7        $B5W86$H$_;R!'@hE7Beo$rM-$9$k;y$KBP$9$k3NDj?GCG$N?WB.2=$X$NJ}N,(B.$B!!J?@.(B14$BG/EY8|@8O+F/>J@.0i0eNE8&5f0QBw;v6H!!8&5fJs9p=8!J9qN)@.0i0eNE%;%s%?! pp253-258, (2003)

8        $B5W86$H$_;R(B, $BE/2'@5Gn!'%O%$%j%9%/?7@8;y$N?GCG%7%9%F%`$K4X$9$k8&5f!!!]@hE7Beo$rM-$9$k;y$KBP$9$k3NDj?GCG$N?WB.2=$X$NJ}N,!](B.$B!!8|@8O+F/>J!&@.0i0eNE8&5f0QBw;v6H!!=E>I>c32?7@8;y0eNE$N%,%$%I%i%$%s$H%O%$%j%9%/?7@8;y$N?GCG%7%9%F%`$K4X$9$kAm9gE*8&5f!!(BPart1 $B!J%O%$%j%9%/?7@8;y$N?GCG%7%9%F%`$K4X$9$k8&5f!KJ?@.(B14(I%(B15$BG/EYCf4VJs9p=q(B P15-49, (2003)

9        $B5W86$H$_;R!'$m;fG"$N(BGC/MS$B$K$h$k?75,BP>]<@45$N?GCGK!$N3+H/$H?7@8;y%9%/%j%K%s%0;n838&5f(B.$B!!8|@8O+F/2J3X8&5f!J;R$I$b2HDmAm9g8&5f;v6H!K!J%^%9%9%/%j!<%K%s%0$N8zN(E*14$BG/EY8&5fJs9p=q(B P84-86, (2003)

10    $B5W86$H$_;R!'$m;fG"$N4J0W%&%l%"!<%IEy$N8!=P46EY(B, $BFC0[@-$K$D$$$F!](B.$B!!8|@8O+F/2J3X8&5f!J;R$I$b2HDmAm9g8&5f;v6H!K!J%^%9%9%/%j!<%K%s%0$N8zN(E*13$BG/EY8&5fJs9p=q(B P172-173, (2002)

11    $B5W86$H$_;R!'G"%&%l%"!<%GC/MS$BK!$K$h$k%W%m%T%*%s;@7l>I(B, $BG"AG2sO)0[>o>I(B, $B%[%b%7%9%A%sG">I$J$I$NB?9`L\%9%/%j!<%K%s%0(B.$B!!8|@82J3X8&5f!J;R$I$b2HDmAm9g8&5f;v6H!K%^%9%9%/%j!<%K%s%0$N8+F($7Ey$rM=KI$9$k%7%9%F%`$N3NN)$K4X$9$k8&5f!!J?@.(B10$BG/EY!AJ?@.(B12$BG/EYAm9g8&5fJs9p=q(B P608, (2001)

12    $B5W86$H$_;R(B, $BBg@%, $BBgEZ0f@i7C(B, $B0f>e5A?M(B, $B?72HIR90(B, $B>>K\!!M&!'G"%&%l%"!<%GC/MS$BK!$K$h$k%W%m%T%*%s;@7l>I(B, $BG"AG2sO)0[>o>I(B, $B%[%b%7%9%A%sG">I$J$I$NB?9`L\%9%/%j!<%K%s%0(B.$B!!8|@82J3X8&5f!J;R$I$b2HDmAm9g8&5f;v6H!K!J8z2LE*$J%^%9%9%/%j!<%K%s%0$N;\:v$K4X$9$k8&5f!KJ?@.(B12$BG/EY8&5fJs9p=q(B P551-553, (2001)

13  $B5W86$H$_;R(B, $B0f>e5A?M(B, $BBgEZ0f@i7C(B, $BBg@%, $B?72HIR90!'4J0WG"%&%l%"!<%I$N%9%/%j!<%K%s%0!]%W%m%T%*%s;@7l>I(B, $B%a%A%k%^%m%s;@7l>I$rCf?4$K!](B.$B!!8|@82J3X8&5f!J;R$I$b2HDmAm9g8&5f;v6H!K!J8z2LE*$J%^%9%9%/%j!<%K%s%0$N11$BG/EY8&5fJs9p=q(B P386-388, (2000)

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2            $B7&ED@.e?N?t5A!"5HEDE/Li!"2,EDM5:n!"9b;3C#Li!"5W86$H$_;R(B: $BFq<#@-$NG"O)7k@P$rDh$7$?86H/@-9b%7%e%&;@G">I(B2$B7?$N(B1$BNc(B. $BF|K\G"O)7k@P>I3X2qBh(B21$B2s3X=Q=82q!J(B2011.08, $B@iMU!K(B

3            $B5W86$H$_;R(B: $BAOLt!&M=KI0e3X!&?GCG3X!&0eNEJ,Ln!&7r9/?)IJ!?%5%W%j%a%s%H3+H/8&5f$N%D!<%k$H$7$F!"(BGC/MS $B$K$h$k%a%?%\%m%_%/%9$NM-8z@-(B. $B%a%?%\%m%_%/%9!!%_%K%;%_%J!2011.05, $BBg:e!?(B2011.06, $BEl5~!K(B

4            $B5W86$H$_;R(B: $BLr$KN)$D2J3XE*2r@O%D!<%k$H$7$F$N%a%?%\%m%_%/%9$NE83+(B. MS$B%$%s%U%)%^%F%#%/%9(B $B%o!<%/%7%g%C%W!J(B2011.03, $BIY;3!K(B

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6            $B0f>e5A?M!"Bg@%: GC/MS$B$rMQ$$$?4%AgMS?e$m;fCf$N%a%A%k%^%m%s;@B,Dj$K$h$k%a%A%k%^%m%s;@G">I$N=P@8A0?GCGK!$K$D$$$F(B. $BBh(B35$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2010.09, $BL>8E20!K(B

7            T. Kuhara, Y. Inoue, M. Ohse, A. J.L. Cooper: Urinary Biomarkers of Primary and Secondary Hyperammonemias. $BBh(B35$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2010.09, $BL>8E20!K(B

8            $B5W86$H$_;R(B: 21$B@$5*$N0e!&Lt3X$K$*$1$k2J3XE*$J2r@O%D!<%k$H$7$F$N%a%?%\%m%_%/%9(B. $BBh(B35$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2010.09, $BL>8E20!K(B

9            $BLZ855W!">.NS@5Mx!"?yK\0jH~!"4d:j9T8: Paenibacillus sp. FPU-7 $B3t$N%-%A%sBe. $BBh(B24$B2s%-%A%s!&%-%H%5%s%7%s%]%8%&%`!J(B2010.07, $BEl5~!K(B

10        $BA};39(L@!"7,866/!"0B0fNIN=!"2!@Z5.Gn!"2OLnH~9,!"0f>e5A?M!"5W86$H$_;R!"0K@nW"F;(B: $BC;D2>I8u7245;y$K$*$1$k(B D-lactic acidosis $B$K$D$$$F(B. $BBh(B47$B2sF|K\302JBe2010.07, $B2#IM!K(B

11        $B5W86$H$_;R(B: $B%a%?%\%m%_%/%9$K$h$k0dEA;R?GCG!"8DJL2=0eNE!"2=3XJ*2A(B. $BBh(B9$B2s%P%$%*%F%/%N%m%8!<9q:]2q5D!J(B2010.06, $BEl5~!K(B

12        $B5W86$H$_;R(B: GC/MS $B%?!<%2%C%H21~MQ(B. $BLtJ*F0BVCLOC2q#47nNc2q!J(B2010.04, $BK-Cf!K(B

13        T. Kuhara: GC/MS-based metabolomics for chemical diagnosis of IEM. The 1st Asian Congress for Inherited Metabolic Diseases$B!JBh(B1$B2s%"%8%"@hE7Beo3X2q5D!K!J(B2010.03, $BJ!2,!K(B

14        $B5W86$H$_;R(B: $B%a%?%\%m!<%`2r@O$N1~MQ!'2=3XJ*2A$+$i8DJL2=0eNE$^$G(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B21$BG/EY8&5f%;%_%J!2010.02, $B6bBt0e2JBg3X!K(B

15        $B?72HIR90(B: $BGC/MS$B$K$h$kBe. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B21$BG/EY8&5f%;%_%J!2010.02, $B6bBt0e2JBg3X!K(B

16        $B0f>e5A?M(B: $BC;D2>I8u72$NF0BV(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B21$BG/EY8&5f%;%_%J!2010.02, $B6bBt0e2JBg3X!K(B

17        $B0f>e5A?M(B: $BBeo>I$K$*$1$k. $BIY;3Bg3XOB4A0eLt3XAm9g8&5f=j!&OB4A8&%;%_%J!2009.12, $BIY;3!K(B

18        $B5W86$H$_;R(B: $B%?%s%G%`%^%9%9%/%j!<%K%s%0$K$*$1$k(BGC/MS$B$K$h$k?GCG%5%]!<%H(B. $BBh(B51$B2sF|K\@hE7Beo3X2q!JBh(B8$B2s%"%8%"@hE7Beo>I%7%s%]%8%&%`J;:E!K!J(B2009.11, $BEl5~!K(B

19        $B?72HIR90!"0f>e5A?M!"Bg@%: HPLC-MS/MS$BJ,@O$K$h$kG"Cf%0%"Fs%8%N2=9gJ*$N0l@FJ,@O(B. $BBh(B51$B2sF|K\@hE7Beo3X2q!JBh(B8$B2s%"%8%"@hE7Beo>I%7%s%]%8%&%`J;:E!K!J(B2009.11, $BEl5~!K(B

20        $B:4GlIpMj!">.LnM5e2DF`;R!"DEEg0ILo!"5W86$H$_;R!"Bg@%.NS7=;R(B: $B%7%H%j%s7gB;>I%b%G%k%^%&%9$O2?$r7y$$!"$=$N6/@)@]51$B2sF|K\@hE7Beo3X2q!JBh(B8$B2s%"%8%"@hE7Beo>I%7%s%]%8%&%`J;:E!K!J(B2009.11, $BEl5~!K(B

21        $BO*:jM*!"9bLZFF;K!"AjEDE5;R!"?72HIR90!"5W86$H$_;R!">.:d?N(B: MRS$B$,?GCG$KM-MQ$G$"$C$?(BCreatine transporter deficiency$B$N0lNc(B. $BBh(B51$B2sF|K\@hE7Beo3X2q!JBh(B8$B2s%"%8%"@hE7Beo>I%7%s%]%8%&%`J;:E!K!J(B2009.11, $BEl5~!K(B

22        $B5W86$H$_;R(B: $BFG@-I>2A$+$iNW>28&5f1~MQ$^$G$N%a%?%\%j%C%/!&%W%m%U%!%$%j%s%0(B. $BBh(B34$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2009.09, $BElBg:e!K(B

23        $B?72HIR90!"5W86$H$_;R(B: Guanidino $B2=9gJ*$*$h$S(B 5-Aminolevulinate $B$N(B HPLC-MS/MS $BJ,@O(B. $BBh(B34$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2009.09, $BElBg:e!K(B

24        $BL#J}OB: $B%i%C%HG"$*$h$S7l^y$N(BGC-MS$B%a%?%\%m!<%`2r@O$K$h$k2=3XJ*2A(B. $BBh(B34$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2009.09, $BElBg:e!K(B

25        $B5W86$H$_;R(B: $BG"%a%?%\%m!<%`2r@O$G?GCG$5$l$?9b%W%m%j%s7l>I$K$D$$$F(B. $BJ?@.(B21$BG/EY8|@8O+F/2J3X8&5f!JFq<#@-<@459nI~8&5f;v6H!K!!9b%W%m%j%s7l>I$NNW>2E*B?MM@-$N2rL@$H?7$7$$?GCG<#NE4p=`$*$h$SD94|%U%)%m!<%"%C%WBN@)$N3NN)!!8&5fHIA4BN2q5D!J(B2009.07, $BFaGF!K(B

26        $BJ!ED5.;R!"1);RED??M}!"L#J}OB2,OBI'!"7!0fOB@.!";0>e??0l!":dEl@6;R!"Bg@%e5A?M!"5W86$H$_;R(B: GC-MS$B$K$h$k%R%I%i%8%sEjM?%i%C%HG"$*$h$S7l^y$N%a%?%\%m!<%`2r@O!J%?!<%2%C%HJ,@O!K(B. $BBh(B57$B2s2009$B!K!J(B2009.05, $BBg:e!K(B

27        $B5W86$H$_;R(B: $B9bEY>/;R2=;~Be$N@.0i$X$N%7%9%F%`%:%P%$%*%m%8!<$N3hMQ(B. $BBh(B112$B2sF|K\>.;y2J3X2q3X=Q=82q!J(B2009.04, $BF`NI!K(B

28        $B5W86$H$_;R!"Bg@%e5A?M!"?72HIR90(B: $BHs?/=1E*%a%?%\%m!<%`2r@O$N1IM\!$H/0iI>2A!$8DJL2=0eNE$X$N1~MQ(B. $BBh(B112$B2sF|K\>.;y2J3X2q3X=Q=82q!J(B2009.04, $BF`NI!K(B

29        $BLZB.Hx2B;L!"NS98@5!"5W86$H$_;R(B: Crystal Nephropathy$B$K$D$$$F(B. $BBh(B55$B2sBg:e?U<@458&5f2q!J(B2009.02, $BBg:e!K(B

30        $B5W86$H$_;R(B: $B%a%?%\%m!<%`2r@O$N?GCG!"8DJL2=0eNE!"2=3XJ*2A$X$N1~MQ(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B20$BG/EY8&5f%;%_%J!2009.02, $B6bBt0e2JBg3X!K(B

31        $B?72HIR90(B: LC-MS/MS$B$K$h$k%/%l%"%A%s9g@.0[>o>I$N2=3X?GCG(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B20$BG/EY8&5f%;%_%J!2009.02, $B6bBt0e2JBg3X!K(B

32        $B0f>e5A?M(B: $BC;D2>I8u7245. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B20$BG/EY8&5f%;%_%J!2009.02, $B6bBt0e2JBg3X!K(B

33        $B?72HIR90(B: $Bo>I$N2=3X?GCG!JG"Cf%0%"%K%8%N?];@$N(BLC/MS/MS$BJ,@O!K(B. $BBh(B68$B2sKLN&2008.11, $BIY;3!K(B

34        $B9b;3C#Li!"9b2,D>1{!"1JED?NIW!"G~C+Aq0l!"Bg1`@?0lO:!">e?N?t5A!"2,EDM5:n!"5W86$H$_;R(B: $BK\K.$N86H/@-9bhk;@G">I#27?#3Nc$N(Bgenotyping. $BBh(B58$B2sF|K\HgG"4o2J3X2qCfItAm2q!J(B2008.11, $BBgDE!K(B

35        $B?72HIR90!"0f>e5A?M!"Bg@%: $BG"Cf%0%"%K%8%N?];@$N(BHPLC-MS/MS$BJ,@O(B. $BBh(B50$B2sF|K\@hE7Beo3X2q!JBh(B7$B2s%"%8%"@hE7Beo>I%7%s%]%8%&%`J;:E!K!J(B2008.11, $BJF;R!K(B

36        $B5W86$H$_;R!"0f>e5A?M!"Bg@%: GC/MS$B$rMQ$$$kG"%a%?%\%m%_%/%9$N@.0i0eNE$X$N1~MQ(B $B!]@hE7Beo>I2=3X?GCG$H%^%9%9%/%j!<%K%s%0;n838&5f!](B. $BBh(B35$B2sF|K\;:IX?M2J0e2q3X=Q=82q!J(B2008.10, $BJ!0f!K(B

37        $BLZB.Hx2B;L!"0BED7=;R!"NS98@5!"5W86$H$_;R(B: $B5^B.$J?U5!G=Dc2<$GH/>I$7$?(B Adenine Phosphoribosyltransferase (APRT) $B40A47gB;>I$N(B1$BNc(B. $BBh(B38$B2sF|K\?UB!3X2q@>It3X=QBg2q!J(B2008.09, $BL>8E20!K(B

38        $B>.NS8,0lO:!"LZB.Hx2B;L!"0BED7=;R!"NS98@5!"5W86$H$_;R(B: $B5^B.$J?U5!G=Dc2<$GH/>I$7$?(B Adenine Phosphoribosyltransferase (APRT) $B40A47gB;>I$N(B1$BNc(B. $BBh(B71$B2sBg:eF)@O8&5f2q!J(B2008.09, $BBg:e!K(B

39        $B>.NS8,0lO:!"LZB.Hx2B;L!"0BED7=;R!"NS98@5!"5W86$H$_;R(B: $B5^B.$J?U5!G=Dc2<$GH/>I$7$?(B Adenine Phosphoribosyltransferase (APRT) $B40A47gB;>I$N(B1$BNc(B. $BBh(B186$B2sF|K\Fb2J3X2q6a5&COJ}2q!J(B2008.09, $B5~ET!K(B

40        T. Takayama, N. Takaoka, M. Miyazaki, M. Nagata, S. Mugiya, K. Johnin, Y. Okada, T. Kuhara, S. Cramer, S. Ozono: The relationship between molecular analysis and ethnic differences of genotype in Japanese patients with primary hyperoxaluria type 2. 11th International Symposium on Urolithiasis$B!JBh(B11$B2s9q:]G"O)7k@P>I%7%s%]%8%&%`!K!J(B2008.09, Nice, France$B!K(B

41        $B5W86$H$_;R(B: GC/MS-based metabolic profiling$B$N8DJL2=0eNE$X$N1~MQ(B. $BBh(B33$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2008.09, $BEl5~!K(B

42        $B?72HIR90!"5W86$H$_;R(B: Guanidinoacetate$B$N(BHPLC-MS/MS$BJ,@O(B. $BBh(B33$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2008.09, $BEl5~!K(B

43        $B5W86$H$_;R(B: $B%a%?%\%m!<%`2r@O$K$h$k0dEA;R?GCG!"8DJL2=0eNE!"2=3XJ*2A(B. $BBh(B7$B2s9q:]%P%$%*%U%)!<%i%`!J(B2008.07, $BEl5~!K(B

44        $B5W86$H$_;R(B: $B@8L?2J3X$N%D!<%k$H$7$F$N%a%?%\%m!<%`2r@O(B. $B6bBt0e2JBg3XBg3X1!0e3X8&5f2J(B $BJ?@.(B20$BG/EYBh(B3$B2s0e3X8&5f%;%_%J!2008.05, $B6bBt0e2JBg3X!K(B

45        $B5W86$H$_;R(B: GC/MS$B$K$h$k%a%?%\%m!<%`2r@O$NNW>21~MQ$N. $BBh(B56$B2s2008$B!K!J(B2008.05, $B$D$/$P!K(B

46        $B5W86$H$_;R(B: $B%a%?%\%m!<%`2r@O$K$h$k8DJL2=0eNE$NE83+(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B19$BG/EY8&5f%;%_%J!2008.02, $B6bBt0e2JBg3X!K(B

47        $B?72HIR90(B: $BCf:?;iKC;@Beo>I45GC/MS$B$*$h$S(BESI-MS$BJ,@O(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B19$BG/EY8&5f%;%_%J!2008.02, $B6bBt0e2JBg3X!K(B

48        $B0f>e5A?M(B: GC/MS$B$rMQ$$$?4%AgMS?e$m;fCf%a%A%k%/%(%s;@B,Dj$K$h$k%W%m%T%*%s;@7l>I$N=P@8A0?GCGK!$K$D$$$F(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B19$BG/EY8&5f%;%_%J!2008.02, $B6bBt0e2JBg3X!K(B

49        $BBg@%: $BG"(BGC-MS$BJ,@O$K$h$k&B(B-Ureidopropionase$B7gB;>I(B 5$B>INc$N2=3X?GCG(B. $BBh(B65$B2sKLN&2007.12, $B6bBt!K(B

50        $B5W86$H$_;R!"Bg@%: $B%9%/%j!<%K%s%0$H?WB.?GCG$N$?$a$N(BGC-MS$B$rMQ$$$kHs?/=1%R%H%a%?%\%m!<%`2r@O(B. $BBh(B49$B2sF|K\@hE7Beo3X2q!JBh(B6$B2s%"%8%"@hE7Beo>I%7%s%]%8%&%`J;:E!K!J(B2007.11, $B;37A!K(B

51        $BBg@%e5A?M!"?72HIR90!"1RF#!!70!":XF#2CBe;R!"JF;3!!L@!"@PEDL@?M!"5W86$H$_;R(B: $BG"(BGC-MS$BJ,@O$K$h$k&B(B-Ureidopropionase$B7gB;>I$N(B4$BNc$N2=3X?GCG(B. $BBh(B49$B2sF|K\@hE7Beo3X2q!JBh(B6$B2s%"%8%"@hE7Beo>I%7%s%]%8%&%`J;:E!K!J(B2007.11, $B;37A!K(B

52        $B1RF#!!70!":dFbM%;R!"EbLZ9nFs!"Cf;3CRGn!";32,8w;R!"1JLZ!!LP!">.9q90NL!"5W86$H$_;R!":XF#2CBe;R!"Bg_7??LZ;R(B: West$B>I8u72$K$FH/>I$7$?(Bbeta-ureidopropinate$B7gB;>I$N(B1$B=w;yNc$NNW>2A|(B. $BBh(B49$B2sF|K\@hE7Beo3X2q!JBh(B6$B2s%"%8%"@hE7Beo>I%7%s%]%8%&%`J;:E!K!J(B2007.11, $B;37A!K(B

53        $B?9B<3(N$!"2!@Z5.Gn!"J!K\BY5,!"A};39(L@!">.>BK.CK!"2OLnH~9,!"0K@nW"F;!"0f>e5A?M!"5W86$H$_;R(B: $BC;D2>I8u7245;y$K$*$1$kG"Cf(B D-lactate $BB,Dj$N0U5A(B $B!A(B D-lactic acidosis $B$NH/>IM=B,$K$`$1$F!A(B. $BBh(B37$B2sF|K\>.;y302JBe2007.11, $B1'ET5\!K(B

54        T. Shinka: The role of GC/MS in diagnosis of inborn errors of metabolism. Second Genetic Metabolic Symposium$B!J(B2007.11, Bangkok, Thailand$B!K(B

55        $B5W86$H$_;R!"Bg@%e5A?M!"?72HIR90!"0MF#5|!"I40f5|!"5Z@n5|!"B<>eMN0l!"=E>>M[2p(B: GC/MS$B$rMQ$$$kG"BeI$N?WB.?GCG(B. $BBh(B32$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2007.09, $B5~ET!K(B

56        $B?72HIR90!"0f>e5A?M!"Bg@%: $BG"(BGC/MS$B$*$h$S(BESI-MS/MS$BJ,@O$K$h$k(BMedium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) $B$N2=3X?GCG(B. $BBh(B32$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2007.09, $B5~ET!K(B

57        $B0f>e5A?M!"Bg@%: GC/MS$B$rMQ$$$?4%AgMS?e$m;fCf$N%a%A%k%/%(%s;@B,Dj$K$h$k%W%m%T%*%s;@7l>I$N=P@8A0?GCG$K$D$$$F(B. $BBh(B32$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2007.09, $B5~ET!K(B

58        $B5W86$H$_;R(B: $B%a%?%\%m!<%`2r@O$N?GCG$H8DJL2=0eNE1~MQ$N. $B9qN)$,$s%;%s%?!2007.09, $BGp!K(B

59        $B5W86$H$_;R(B: $B?GCG$H8DJL2=0eNE$N$?$a$NHs?/=1E*%R%H%a%?%\%m!<%`2r@O(B. $B9qN)0eLtIJ?)IJ1R@88&5f=j!&FCJL9V1i2q!J(B2007.09, $BEl5~!K(B

60        $B5W86$H$_;R(B: $B?GCG$H8DJL2=0eNE$N$?$a$NHs?/=1E*%R%H%a%?%\%m!<%`2r@O(B. $BF|K\LtJ*F0BV3X2q!!%S%8%g%s!&%7%s%]%8%&%`!J(B2007.07, $BEl5~!K(B

61        $B?9B<3(N$!"J!K\BY5,!"A};39(L@!">.>BK.CK!"2OLnH~9,!"0K@nW"F;!"0f>e5A?M!"5W86$H$_;R(B: $BC;D2>I8u7245;y$K$*$1$k7lCf!&G"Cf(B D-lactate $BB,Dj$N0U5A(B. $BBh(B44$B2sF|K\>.;y302J3X2q3X=Q=82q!J(B2007.05-06, $BEl5~!K(B

62        $B5W86$H$_;R(B: $B. $BBh(B274$B2s(BCBI$B3X2q8&5f9V1i2q!J(B2007.05, $BEl5~!K(B

63        $B5W86$H$_;R(B: $B?GCG$H8DJL2=0eNE$N$?$a$NHs?/=1E*%R%H%a%?%\%m!<%`2r@O(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B18$BG/EY8&5f%;%_%J!2007.02, $B6bBt0e2JBg3X!K(B

64        $B?72HIR90(B: $B%=%U%H%$%*%s2=. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B18$BG/EY8&5f%;%_%J!2007.02, $B6bBt0e2JBg3X!K(B

65        $B0f>e5A?M(B: $BC;D2>I8u72$K$*$1$k(BD-$BF};@$NF0BV$K$D$$$F(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B18$BG/EY8&5f%;%_%J!2007.02, $B6bBt0e2JBg3X!K(B

66        $BBg@%e5A?M!"5W86$H$_;R(B: $B$m;fG"$K$h$k?7@8;y%^%9%9%/%j!<%K%s%0;n838&5f!]2=3X?GCG$+$i%b%K%?%j%s%0$^$G!](B. $BJ?@.(B18$BG/EY8|@8O+F/>J2J3X8&5f!J;R$I$b2HDmAm9g8&5f;v6H!K!!$o$,9q$N(B21$B@$5*$K$*$1$k?7@8;y%^%9!&%9%/%j!<%K%s%0$N$"$jJ}$K4X$9$k8&5f!!8&5fHIA4BN2q5D!J(B2007.01, $BEl5~!K(B

67        M. Fujiwara, I. Ando, K. Arifuku, T. Kataoka, K. Kanazawa, T. Nemoto, T. Kuhara: Non-targeted NMR Metabolomics: Detection and evaluation for disease status of inborn errors of metabolism using 1H spectra of human urine. $BBh(B45$B2s(BNMR$BF$O@2q!J(B2006.11, $B5~ET!K(B

68        $B?9B<3(N$!"J!K\BY5,!"A};39(L@!"2,K\?8Lo!">.>BK.CK!"2OLnH~9,!"0K@nW"F;!"0f>e5A?M!"5W86$H$_;R(B: D-lactic acidosis$B$r@8$8$?C;D2>I8u72$KBP$9$kDj4|E*G"Cf(BD-lactate$BB,Dj$N0U5A(B. $BBh(B36$B2sF|K\>.;y302JBe2006.11, $B9b>>!K(B

69        $B5W86$H$_;R(B: $B8DJL2=0eNE$HHs?/=1%a%?%\%m!<%`2r@O(B. $BBh(B31$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2006.09, $BL>8E20!K(B

70        $B?72HIR90!"0f>e5A?M!"Bg@%: $B$m;f5[CeG"N2;@Jz9gC@=A;@$N(B ESIMS $BJ,@O$K$h$kC@=A$&$CBZ8!:w(B. $BBh(B31$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2006.09, $BL>8E20!K(B

71        $B0f>e5A?M!"Bg@%.>BK.CK!"0K@nW"F;!"5W86$H$_;R(B: $BC;D2>I8u72$K$*$1$kG"Cf(B D-$BF};@$NF|FbJQF0$K$D$$$F(B. $BBh(B31$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2006.09, $BL>8E20!K(B

72        T. Kuhara, Y. Inoue, M. Ohse, T. Shinka, T. Inokuchi, K. Aoki, K. Tashiro, M. Inaba, A. Fumimori, M. Tetsuo: A pilot study of newborn screening and chemical diagnosis by GC/MS analysis of urine. The 6th Meeting of the International Society for Neonatal Screening$B!JBh(B6$B2s9q:]?7@8;y%9%/%j!<%K%s%03X2q!K!J(B2006.09, $BC8O)!K(B

73        T. Kuhara: Metabolome-based chemical diagnosis of IEM. The 10th International Congress of Inborn Errors of Metabolism$B!JBh(B10$B2s9q:]@hE7Beo3X2q!K!J(B2006.09, $B@iMU!K(B

74        P. Wasant, S. Liammongkolkul, A. Sathienkijkarnchai, T. Shinka: Glutaric aciduria type I in a Thai infant. The 10th International Congress of Inborn Errors of Metabolism$B!JBh(B10$B2s9q:]@hE7Beo3X2q!K!J(B2006.09, $B@iMU!K(B

75        P. Wasant, S. Liammongkolkul, T. Shinka, I. Matsumoto: Multiple carboxylase deficiency in a Thai infant: first reported case. The 10th International Congress of Inborn Errors of Metabolism$B!JBh(B10$B2s9q:]@hE7Beo3X2q!K!J(B2006.09, $B@iMU!K(B

76        P. Wasant, S. Liammongkolkul, EW. Naylor, T. Shinka: Isovaleric acidemia in Thai infants: a report of 5 cases. The 10th International Congress of Inborn Errors of Metabolism$B!JBh(B10$B2s9q:]@hE7Beo3X2q!K!J(B2006.09, $B@iMU!K(B

77        P. Wasant, S. Liammongkolkul, T. Shinka: Mitochondrial acetoacetyl-CoA thiolase (MAT) deficiency in a Thai boy: first reported case. The 10th International Congress of Inborn Errors of Metabolism$B!JBh(B10$B2s9q:]@hE7Beo3X2q!K!J(B2006.09, $B@iMU!K(B

78        S. Liammongkolkul, P. Wasant, T. Shinka: D-Glyceric aciduria in Thai infant with vesical stone: first reported case. The 10th International Congress of Inborn Errors of Metabolism$B!JBh(B10$B2s9q:]@hE7Beo3X2q!K!J(B2006.09, $B@iMU!K(B

79        P. Wasant, S. Liammongkolkul, T. Shinka, I. Matsumoto: Fructose-1,6-bisphosphatase deficiency (FBP1) in Thai infant: first reported case. The 10th International Congress of Inborn Errors of Metabolism$B!JBh(B10$B2s9q:]@hE7Beo3X2q!K!J(B2006.09, $B@iMU!K(B

80        $B2OLnH~9,!"?9B<3(N$!"J!K\BY5,!"A};39(L@!"2,K\?8Lo!">.>BK.CK!"0K@nW"F;!"0f>e5A?M!"5W86$H$_;R(B: D-lactic acidosis$B$rDh$7$?C;D2>I8u72$N#1Nc(B. $BBh(B36$B2sF|K\>.;y302J3X2qKLN&COJ}2q!J(B2006.09, $B6bBt!K(B

81        $B5W86$H$_;R(B: $B?GCG$H8DJL2=0eNE$N$?$a$NHs?/=1E*%a%?%\%m!<%`2r@O(B. JAIMA$B%3%s%U%!%l%s%9!JJ,@OE8F1;~3+:E!K!J(B2006.08-09, $B@iMU!K(B

82        $BIY_71Qe5A?M!"5W86$H$_;R(B: $BEv1!$K$*$1$k2a5n(B6$BG/4V$N?7@8;y@hE7@-Beo%9%/%j!<%K%s%08!::$N8!F$(B. $BF|K\;:2JIX?M2J1IM\!&Be30$B2s3X=Q=82q!J(B2006.08, $BEl5~!K(B

83        T. Nemoto, M. Fujiwara, I. Ando, K. Arifuku, T. Kuhara: NMR metabolomics 1/2 Multivariate analysis for diagnostic study of inherited metabolic disorders using human urine. Chem-Bio Informatics Society $B>pJs7W;;2=3X@8J*3X2q(B2006$BG/Bg2q!J(B2006.07, $BEl5~!K(B

84        $B:,K\D>!"JR2,L/;R!"M-J!OB5*!"0BF#0lO:!"6b_77r<#!"F#86@5;R!"5W86$H$_;R(B: NMR$B%a%?%\%j%C%/!&%W%m%U%!%$%j%s%0K!$K$h$k@hE7Beo$N8!=P!&I>2A(B. $BF|K\%R%H%W%m%F%*!<%`5!9=!J(BJHUPO$B!KBh(B4$B2sBg2q!&Bh(B2$B2sF|K\NW>2%W%m%F%*!<%`8&5f2q!J(BJSCP$B!KO"9gBg2q!J(B2006.07, $BEl5~!K(B

85        M. Fujiwara, T. Nemoto, T. Kuhara: Metabolic profiling using NMR-based multivariate analysis and its clinical application combined with Mass spectroscopy. 20th IUBMB International Congress of Biochemistry and Molecular Biology and 11th FAOBMB Congress$B!JBh(B20$B2s9q:]@82=3X!&J,;R@8J*3X2q5D!?Bh(B11$B2s%"%8%"!&%*%;%"%K%"@82=3X2006.06, $B5~ET!K(B

86        $B5W86$H$_;R!"Bg@%e5A?M!"?72HIR90!"2,LnA19T!"Bl_7EP!"K\6?OB5W!"5\OFMxCK!"?9?.: $B7PCf?4@EL.1IM\2<$N9b%U%'%K%k%"%i%K%s7l>I$N%a%?%\%m!<%`2r@O(B. $BBh(B109$B2sF|K\>.;y2J3X2q3X=Q=82q!J(B2006.04, $B6bBt!K(B

87        $B?72HIR90!"0f>e5A?M!"Bg@%: $BC@=A$&$C^|4N>c3245. $BBh(B109$B2sF|K\>.;y2J3X2q3X=Q=82q!J(B2006.04, $B6bBt!K(B

88        $B0f>e5A?M!"Bg@%: $B@hE7@-Beo>I$N=P@8A0?GCG$K$D$$$F(B. $BBh(B109$B2sF|K\>.;y2J3X2q3X=Q=82q!J(B2006.04, $B6bBt!K(B

89        $B5W86$H$_;R(B: $B%a%?%\%m!<%`$H8DJL2=0eNE(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B17$BG/EY8&5f%;%_%J!2006.02, $B6bBt0e2JBg3X!K(B

90        $B?72HIR90(B: $BG"CfN2;@Jz9g7?C@=A;@$N(BESIMS$BJ,@OK!$N8!F$(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B17$BG/EY8&5f%;%_%J!2006.02, $B6bBt0e2JBg3X!K(B

91        $B0f>e5A?M(B: GC/MS$B$K$h$k8w3X0[@-BNJ,N%J,@O$rMQ$$$?C;D2>I8u72$NIBBV2r@OK!$N8!F$(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B17$BG/EY8&5f%;%_%J!2006.02, $B6bBt0e2JBg3X!K(B

92        $B5W86$H$_;R!"Bg@%e5A?M!"?72HIR90!"E/2'@5Gn(B: $BG"%a%?%\%m!<%`2r@O$K$h$k?7@8;y%9%/%j!<%K%s%0;n838&5f$H?WB.2=3X?GCG(B. $BJ?@.(B17$BG/EY8|@8O+F/>J2J3X8&5f!J;R$I$b2HDmAm9g8&5f;v6H!K!!$o$,9q$N(B21$B@$5*$K$*$1$k?7@8;y%^%9!&%9%/%j!<%K%s%0$N$"$jJ}$K4X$9$k8&5f!!8&5fHIA4BN2q5D!J(B2006.02, $BEl5~!K(B

93        Somporn Liammongkolkul, Pornswan Wasant, Toshihiro Shinka: Tyrosinemia type I in Thailand $B!](B A report of 4 cases. $BBh(B48$B2sF|K\@hE7Beo3X2q!J(B2005.11, $B7'K\!K(B

94        $BBg@%e5A?M!"?72HIR90!"Cv8}N4MN!"5HED0lO:!"E/2'@5Gn!"5W86$H$_;R(B: $B4J0W(Burease GC/MS$BK!$rMQ$$$k?7@8;y%^%9%9%/%j!<%K%s%0;n838&5f$H%O%$%j%9%/%9%/%j!<%K%s%0(B. $BBh(B33$B2sF|K\%^%9!&%9%/%j!<%K%s%03X2q!JBh(B28$B2s5;=QIt2q!K!J(B2005.10, $B5WN1JF!K(B

95        $B5W86$H$_;R(B: $B@hE7Beo$H(GC-MS)$B$rMQ$$$?%a%?%\%m!<%`2r@O(B. 2005 JEOL NMR$B%;%_%J!2005.10, $BBg:e!K(B

96        $B5W86$H$_;R(B: $B%,%9%/%m%^%H%0%i%U%#!. $BBh(B30$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2005.09, $BK-Cf!K(B

97        $B5W86$H$_;R!"Bg@%e5A?M!"?72HIR90(B: $B%a%?%\%m!<%`2r@O$K$h$k0dEA@-(B, $B1IM\@-MW0x$N8!:w$H8DJL2=0eNE(B. $BBh(B30$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2005.09, $BK-Cf!K(B

98        $B?72HIR90!"0f>e5A?M!"Bg@%: $BG"N2;@Jz9g7?C@=A;@(BESIMS$BJ,@O$K$h$kC@F;JD:?>I%9%/%j!<%K%s%0K!$N8!F$(B. $BBh(B30$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2005.09, $BK-Cf!K(B

99        $B0f>e5A?M!"?72HIR90!"Bg@%: $B8w3X0[@-BNJ,N%J,@O$rMQ$$$?C;D2>I8u72$NIBBV2r@OK!$N8!F$(B. $BBh(B30$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2005.09, $BK-Cf!K(B

100    T. Kuhara, M. Ohse, Y. Inoue, T. Shinka, M. Tetsuo: Urine metabolome analysis for chemical diagnosis of metabolic diseases, newborn screening, and tailor-made medicine. The First International Conference of the Metabolomics Society $B!JBh(B1$B2s9q:]%a%?%\%m!<%`3X2q!K!J(B2005.06, $BDa2,!K(B

101    $B5W86$H$_;R(B: $B%a%?%\%m!<%`2r@OK!$NNW>20e3X1~MQ(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B16$BG/EY8&5f%;%_%J!2005.02, $B6bBt0e2JBg3X!K(B

102    $B?72HIR90(B: GC/MS$B$K$h$k%A%m%7%s>I(BI$B7?$N2=3X?GCG(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B16$BG/EY8&5f%;%_%J!2005.02, $B6bBt0e2JBg3X!K(B

103    $B0f>e5A?M(B: $B9bhk;@G">I$N2=3X?GCG!!!](BGC/MS$B$K$h$k%0%j%;%j%s;@$N9b46EY8w3X0[@-BNJ,@O!](B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B16$BG/EY8&5f%;%_%J!2005.02, $B6bBt0e2JBg3X!K(B

104    $B5W86$H$_;R!"Bg@%e5A?M!"?72HIR90!"E/2'@5Gn(B: $BG"$N%a%?%\%m!<%`2r@O$K$h$k?7@8;y%^%9%9%/%j!<%K%s%0;n838&5f(B. $BJ?@.(B16$BG/EY8|@8O+F/>J2J3X8&5f!J;R$I$b2HDmAm9g8&5f;v6H!K!!$o$,9q$N(B21$B@$5*$K$*$1$k?7@8;y%^%9!&%9%/%j!<%K%s%0$N$"$jJ}$K4X$9$k8&5f!!8&5fHIA4BN2q5D!J(B2005.02, $BEl5~!K(B

105    $B5W86$H$_;R(B: GC-MS$B$rMQ$$$k%R%H$m;fG"%a%?%\%m!<%`2r@O$H%O%$%j%9%/$N?7@8;y$+$i@.?M$^$G$N?GCG%7%9%F%`(B. $BBh(B47$B2sF|K\@hE7Beo3X2q!J(B2004.11, $B1'ET5\!K(B

106    $BBg1:IRGn!">.@t>e=c;R!">>1:HOIW!"Ln:j=a0l!"5W86$H$_;R!":dK\=$!"HS>B0l1'(B: Hartnup$BIB!'IB0x0dEA;R$NF1Dj$*$h$SF|K\?M#32H7O$N0dEA;R2r@O(B. $BBh(B47$B2sF|K\@hE7Beo3X2q!J(B2004.11, $B1'ET5\!K(B

107    Pornswan Wasant, Somporn Liammongkolkul, Pisanu Ratanarak, Achara Sathienkijakanchai, Nithiwat Vanatawicharn, Kenji Hara, Toshihiro Shinka: Inherited metabolic disorders in Thai infants identified by Gas-Liquid Chromatography and Mass spectrometry (GC/MS). $BBh(B47$B2sF|K\@hE7Beo3X2q!J(B2004.11, $B1'ET5\!K(B

108    $B?72HIR90!"0f>e5A?M!"Bg@%: $B$m;f5[CeG"(BGC/MS$BJ,@O$K$h$k%A%m%7%s>I(BⅠ$B7?$N2=3X?GCG$N8!F$(B. $BF|K\%^%9!&%9%/%j!<%K%s%03X2q!JBh(B32$B2s!K5;=QIt2q!JBh(B27$B2s!K!J(B2004.10, $B@gBf!K(B

109    $BBg@%e5A?M!"5W86$H$_;R(B: $B$m;fG"$rMQ$$$k?7@8;y%9%/%j!<%K%s%0;n838&5f(B. $BF|K\%^%9!&%9%/%j!<%K%s%03X2q!JBh(B32$B2s!K5;=QIt2q!JBh(B27$B2s!K!J(B2004.10, $B@gBf!K(B

110    $B5W86$H$_;R(B: $B%a%?%\%j%C%/%W%m%U%!%$%j%s%0$+$i%a%?%\%m!<%`2J3X$X(B. $BBh(B29$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2004.09, $B=P1@!K(B

111    $B?72HIR90!"5W86$H$_;R(B: $B$m;f5[CeG"(BGC/MS$BJ,@O$K$h$k%A%m%8%s>I(BI$B7?$N2=3X?GCG(B. $BBh(B29$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2004.09, $B=P1@!K(B

112    $B0f>e5A?M!"?72HIR90!"Bg@%: $B9bhk;@G">I(BII$B7?$N2=3X?GCG!]%0%j%;%j%s;@$N8w3X0[@-BNJ,N%J,@O!](B. $BBh(B29$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2004.09, $B=P1@!K(B

113    $BE/2'@5Gn!"5W86$H$_;R(B: $B%,%9%/%m%^%H!<o>I?7@8;y%9%/%j!<%K%s%0$X$N1~MQ!J(BII$BJs!K(B. $BBh(B56$B2sF|K\;:2JIX?M2J3X2qAm2q!&3X=Q9V1i2q!J(B2004.04, $BEl5~!K(B

114    $B5W86$H$_;R(B: $B%]%9%H%2%N%`;~Be$K1w$1$k%a%?%\%m!<%`$N2J3X!'45. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B15$BG/EY8&5f%;%_%J!2004.02, $B6bBt0e2JBg3X!K(B

115    $B?72HIR90(B: $B%A%m%8%s>I(BI$B7?$N4UJL2=3X?GCG(B. $B6bBt0e2JBg3XAm9g0e3X8&5f=jJ?@.(B15$BG/EY8&5f%;%_%J!2004.02, $B6bBt0e2JBg3X!K(B

116    $B5W86$H$_;R(B: $BG"%a%?%\%m!<%`2r@O$K$h$k?WB.2=3X?GCG$H?7@8;y%9%/%j!<%K%s%0;n838&5f(B. $BJ?@.(B15$BG/EY8|@8O+F/2J3X8&5f!JFq<#@-<@459nI~8&5f;v6H!K8&5fHIA4BN2q5D!J%^%9%9%/%j!<%K%s%0$N8zN(E*2004.02, $BEl5~!K(B

117    $BBg@%: $B&B(B-ureidopropionase $B7gB;>I$N2=3X?GCG!J@$3&$G(B3$BNcL\$NJs9p!K(B. $BBh(B279$B2sF|K\>.;y2J3X2qKLN&COJ}2q!&Bh(B12$B2sF|K\>.;y2J3X2qIY;3COJ}2q!J(B2003.12, $BIY;3!K(B

118    $B?72HIR90!"5W86$H$_;R(B: $B%A%m%8%s>I(BI $B7?$N4UJL2=3X?GCG!'(BGC/MS$BK!$K$h$k(B5-$B%"%_%N%l%V%j%s;@J,@O(B. $BBh(B46$B2sF|K\@hE7Beo3X2q!J(B2003.11, $B>>9>!K(B

119    $BEDNIEgH~2B;R!":XF#2CBe;R!":4!9LZ9a?%!"=.DM??!"Bg_7??LZ;R!"1sF#J8IW!";0^<9@!"5W86$H$_;R!":4AR?-IW!"0MF#5|(B: $B?7@8;y4|$+$iHnBg7??46Z>I$r<($7$?%W%m%T%*%s;@7l>I$N0lNc(B. $BBh(B46$B2sF|K\@hE7Beo3X2q!J(B2003.11, $B>>9>!K(B

120    T. Kuhara: Chemical diagnosis of inherited and acquired metabolic disorders, tailor-made medicine and metabolomics. $BBh(B76$B2sF|K\@82=3X2qBg2q!J(B2003.10, $B2#IM!K(B

121    $B5W86$H$_;R(B: $B%a%?%\%m!<%`2r@O$H?@7P2j:YK&I!"%"%_%N;@Beo>I$NJ,;R?GCG!"4UJL2=3X?GCG(B. $BBh(B31$B2sF|K\%^%9!&%9%/%j!<%K%s%03X2q!J(B2003.10, $B7'K\!K(B

122    $B?72HIR90!"5W86$H$_;R(B: GC/MS$B$K$h$kG"Cf(B5-aminolevulinic acid $B$NDjNLJ,@O(B. $BBh(B28$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2003.09, $BIM>>!K(B

123    $B0f>e5A?M!"5W86$H$_;R(B: Canavan$BIB$N%9%/%j!<%K%s%0$H2=3X?GCG(B. $BBh(B28$B2sF|K\0eMQ%^%9%9%Z%/%H%k3X2qG/2q!J(B2003.09, $BIM>>!K(B

124    T. Kuhara: Pilot study of newborn urine screening and diagnosis by gas chromatography-mass spectrometry. The 6th World Congress of Perinatal Medicine $B!JBh(B6$B2s@$3&<~;:4|3X2q!K!J(B2003.09, $BBg:e!K(B

125    $B5W86$H$_;R(B: $B%a%?%\%m%_%/%9$K$h$kBec32$NJ,;R?GCG3X$H$=$N0eNELt3X$X$N1~MQ(B. $BBh(B14$B2sEl3$KLN&2003.07, $BL>8E20!K(B

126    $BBg@%: $B%T%j%_%8%sBeo>I$N0l@F2=3X?GCG$H%F!<%i!<%a%$%I0eNE(B. $BBh(B55$B2sKLN&2003.05, $BIY;3!K(B

127    $BE/2'@5Gn!">>1JN485!"@P>>=g;L!"5W86$H$_;R(B: $B%,%9%/%m%^%H%0%i%U!&o>I?7@8;y%9%/%j!<%K%s%0$X$N1~MQ(B. $BBh(B55$B2sF|K\;:2JIX?M2J3X2q!J(B2003.04, $BJ!2,!K(B

128    $B5W86$H$_;R(B: $B$m;fG"$N(BGC/MS$B$K$h$k?75,BP>]<@45$N?GCGK!$N3+H/$H?7@8;y%9%/%j!<%K%s%0;n838&5f(B. $BJ?@.(B14$BG/EY8|@8O+F/2J3X8&5f!J;R$I$b2HDmAm9g;v6H!K8&5fHIA4BN2q5D!J%^%9%9%/%j!<%K%s%0$N8zN(E*2003.02, $BEl5~!K(B

  $B%Z!<%8(BTop$B$X(B

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1998~2010

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1999~2003

 

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2005~6

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2005~6 

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1999 ~2000      

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1997~8  

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1996~7

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1996

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1995

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1995

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1993

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1992~3

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1991

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1990~1

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1989

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2009 $B0f>e5A?M(B $B%+%J%P%sIB$N

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2001~3

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2001~3

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1998 ~2000

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1996~7

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1991

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2000

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1997~9

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1994~6

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1991~3

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