S. Sumi

发表

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency

J. Sanderson, R. D. De Abreu, S. Thein, 2002, Human Genetics.

Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

P. Vreken, H. Togari, Y. Wada, 1998, American journal of human genetics.

Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity.

H. Togari, Y. Wada, S. Sumi, 1998, American journal of medical genetics.

Dihydropyrimidinuria: the first case in Japan.

S. Sumi, M. Imaeda, M. Kobayashi, 1994, Advances in experimental medicine and biology.

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population.

H. Togari, A. Marinaki, S. Sumi, 2005, Molecular genetics and metabolism.

Urinary uracil in female patients with ornithine transcarbamylase deficiency

H. Togari, S. Sumi, Tetsuya Ito, 2005, Pediatrics international : official journal of the Japan Pediatric Society.

Identification of missense mutations in the hepatocyte nuclear factor-3β gene in Japanese subjects with late-onset Type II diabetes mellitus

Y. Matsuzawa, Q. Zhu, K. Yamagata, 2000, Diabetologia.

Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation

S. Fujimoto, H. Togari, D. Yamazaki, 2006, Journal of Human Genetics.

Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene

K. Asai, S. Sumi, A. Moriyama, 2005, Human Genetics.

Automated determination of hypoxanthine and xanthine in urine by high-performance liquid chromatography with column switching.

Y. Wada, S. Sumi, S. Ohba, 1995, Journal of chromatography. B, Biomedical applications.

Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase).

C. Lewis, J. Sanderson, J. Duley, 2004, Pharmacogenetics.

Interstitial deletion of the long arm of chromosome 2: A dose study on isocitrate dehydrogenase 1

S. Sumi, N. Ogasawara, H. Oishi, 1988, Japanese Journal of Human Genetics.

Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency.

Y. Wada, A. V. van Kuilenburg, T. Kuhara, 2003, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Usefulness of uracil loading test for detecting 5-fluorouracil metabolic enzyme deficiencies in humans

R. Ueda, M. Mizokami, S. Sumi, 2000, International Journal of Clinical Oncology.

Automated determination of 5-fluorouracil and its metabolite in urine by high-performance liquid chromatography with column switching.

S. Fujimoto, H. Togari, Y. Wada, 1999, Journal of chromatography. B, Biomedical sciences and applications.

Severe 5-fluorouracil-induced toxicity due to decreased dihydropyrimidine dehydrogenase activity: report of a patient survival and urinary pyrimidine and dihydropyrimidine levels

S. Sumi, K. Kidouchi, T. Ayabe, 1999, International Journal of Clinical Oncology.

Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria.

Y. Wada, R. Ueda, M. Mizokami, 1996, Clinical cancer research : an official journal of the American Association for Cancer Research.

Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry.

H. Togari, S. Sumi, Tetsuya Ito, 2007, Rapid communications in mass spectrometry : RCM.

Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism

S. Fujimoto, Y. Shima, S. Sumi, 1990, Clinical genetics.

Characterization of Point Mutations in Two Hereditary Orotic

M. E. Hodgson, K. Okajima, S. Sumi, 2006 .

Urinary pyrimidine analysis in healthy newborns and newborns with urea cycle disorder

H. Togari, I. Kato, S. Sumi, 2005 .

Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.

H. Togari, S. Sumi, Tetsuya Ito, 2005, The Tohoku journal of experimental medicine.

A simple quantitative assay for urinary adenosine using column-switching high-performance liquid chromatography.

H. Togari, S. Sumi, Tetsuya Ito, 2006, The Tohoku journal of experimental medicine.

Mutation in the ITPA Gene Predicts Intolerance to Azathioprine

C. Lewis, J. Sanderson, J. Duley, 2003, Nucleosides, nucleotides & nucleic acids.

The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene.

J. Sanderson, J. Duley, A. Marinaki, 2007, Biochimica et biophysica acta.

A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells

H. Togari, S. Sumi, T. Ito, 2004, Journal of Inherited Metabolic Disease.

Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity.

H. Togari, Y. Wada, M. Nonaka, 1998, Clinical cancer research : an official journal of the American Association for Cancer Research.

Allopurinol challenge tests performed before and after living-related donor liver transplantation in citrullinaemia

H. Togari, Y. Wada, T. Hashimoto, 2003, Journal of Inherited Metabolic Disease.

Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.

M. E. Hodgson, K. Okajima, S. Sumi, 1997, American journal of human genetics.

Allele Frequency of Inosine Triphosphate Pyrophosphatase Gene Polymorphisms in a Japanese Population

J. Duley, L. Fairbanks, A. Marinaki, 2004, Nucleosides, nucleotides & nucleic acids.

Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.

Y. Wada, S. Sumi, S. Ohba, 1995, Journal of chromatography. B, Biomedical applications.

Acute megakaryoblastic leukemia in Down syndrome, following thrombocytopenia with antiplatelet antibody.

Y. Shibata, S. Sumi, M. Obayashi, 1990, The Tohoku journal of experimental medicine.

Urinary Screening for Pyrimidine Metabolism Disorders

Y. Wada, S. Sumi, M. Imaeda, 1998 .

Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.

H. Togari, Y. Wada, S. Sumi, 1998, Tohoku journal of experimental medicine.

Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene

K. Asai, S. Sumi, A. Moriyama, 2005, Human Genetics.

Mutation in the ITPA gene predicts intolerance to azathioprine

J. Sanderson, J. Duley, T. Marinaki, 2003 .

Probable assignment of the dihydropteridine reductase gene to 4p15.31.

Y. Wada, H. Oishi, S. Sumi, 1990, Tohoku journal of experimental medicine.

Dihydropyrimidinuria without clinical symptoms

Y. Wada, S. Sumi, S. Ohba, 1996, Journal of Inherited Metabolic Disease.

Long follow up of betaine therapy in two Japanese siblings with cystathionine β‐synthase deficiency

H. Togari, S. Sumi, Tetsuya Ito, 2008, Pediatrics international : official journal of the Japan Pediatric Society.

SSCP Screening of the Dihydropyrimidine Dehydrogenase Gene Polymorphisms of the Japanese Population Using a Semi-automated Electrophoresis Unit

H. Togari, Y. Okamoto, S. Sumi, 2007, Biochemical Genetics.