Satoshi Sumi

Summary

Country: Japan

Publications

  1. ncbi request reprint Urinary uracil in female patients with ornithine transcarbamylase deficiency
    Satoshi Sumi
    Department of Pediatrics, Neonatology and Congenital Disorders, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan
    Pediatr Int 47:262-6. 2005
  2. ncbi request reprint Sibling risk of pervasive developmental disorder estimated by means of an epidemiologic survey in Nagoya, Japan
    Satoshi Sumi
    West District Care Center for Disabled Children, 20 48 Komoto, Nakagawa Ku, Nagoya 454 0828, Japan
    J Hum Genet 51:518-22. 2006
  3. doi request reprint Genetic correlation between autistic traits and IQ in a population-based sample of twins with autism spectrum disorders (ASDs)
    Takeshi Nishiyama
    Department of Information and Biological Sciences, Graduate School of Natural Sciences, Nagoya City University, Mizuho ku, Nagoya, Japan
    J Hum Genet 54:56-61. 2009
  4. doi request reprint Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families
    Takeshi Nishiyama
    Clinical Trial Management Center, Nagoya City University Hospital, Nagoya, Japan
    J Hum Genet 54:721-6. 2009
  5. ncbi request reprint Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population
    Tohru Maeda
    Department of Hospital Pharmacy, Nagoya City University Hospital, 1 Kawasumi, Mizuho cho, Mizuho ku, Nagoya, Aichi 467 8602, Japan
    Mol Genet Metab 85:271-9. 2005
  6. ncbi request reprint Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation
    Yumiko Ohkubo
    Department of Pediatrics, Neonatology and Congenital Disorders, Graduate School of Medical Sciences, Nagoya City University, 1 Kawasumi, Mizuho cho, Mizuho ku, Nagoya 467 8601, Japan
    J Hum Genet 51:118-23. 2006
  7. ncbi request reprint A simple quantitative assay for urinary adenosine using column-switching high-performance liquid chromatography
    Hiroko Taniai
    Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
    Tohoku J Exp Med 208:57-63. 2006
  8. ncbi request reprint Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry
    Yasuhiro Maeda
    Laboratory of Hospital Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Japan
    Rapid Commun Mass Spectrom 21:799-806. 2007
  9. doi request reprint Genetic influences on the broad spectrum of autism: study of proband-ascertained twins
    Hiroko Taniai
    Nagoya Child Welfare Center, Nagoya, Japan
    Am J Med Genet B Neuropsychiatr Genet 147:844-9. 2008
  10. ncbi request reprint The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene
    Monica Arenas
    Purine Research Laboratory, Department of Chemical Pathology, Guy s Hospital, London, SE1 9RT, UK, and Department of Paediatrics, Neonatology and Congenital Disorders, Nagoya City University, Japan
    Biochim Biophys Acta 1772:96-102. 2007

Collaborators

Detail Information

Publications12

  1. ncbi request reprint Urinary uracil in female patients with ornithine transcarbamylase deficiency
    Satoshi Sumi
    Department of Pediatrics, Neonatology and Congenital Disorders, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan
    Pediatr Int 47:262-6. 2005
    ..It is important to establish a simple method to distinguish symptomatic from asymptomatic patients...
  2. ncbi request reprint Sibling risk of pervasive developmental disorder estimated by means of an epidemiologic survey in Nagoya, Japan
    Satoshi Sumi
    West District Care Center for Disabled Children, 20 48 Komoto, Nakagawa Ku, Nagoya 454 0828, Japan
    J Hum Genet 51:518-22. 2006
    ..The sibling incidences were 0 and 10.9% for families in which the proband had low and normal birth-weight, respectively, suggesting the risk is lower in families with low-birth-weight probands...
  3. doi request reprint Genetic correlation between autistic traits and IQ in a population-based sample of twins with autism spectrum disorders (ASDs)
    Takeshi Nishiyama
    Department of Information and Biological Sciences, Graduate School of Natural Sciences, Nagoya City University, Mizuho ku, Nagoya, Japan
    J Hum Genet 54:56-61. 2009
    ..The individual life experiences that increase autistic traits, however, have a moderate overlap with those that contribute to individual IQs...
  4. doi request reprint Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families
    Takeshi Nishiyama
    Clinical Trial Management Center, Nagoya City University Hospital, Nagoya, Japan
    J Hum Genet 54:721-6. 2009
    ..Our results also suggest that the largest proportion of ASD cases is caused by dominant inheritance. We additionally show that Supplementary information regarding prevalence has a crucial role in analyzing proband-ascertained data...
  5. ncbi request reprint Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population
    Tohru Maeda
    Department of Hospital Pharmacy, Nagoya City University Hospital, 1 Kawasumi, Mizuho cho, Mizuho ku, Nagoya, Aichi 467 8602, Japan
    Mol Genet Metab 85:271-9. 2005
    ..Pretherapeutic screening of individuals for ITPA polymorphisms should be considered for safer and more tolerable treatment with thiopurine drugs...
  6. ncbi request reprint Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutation
    Yumiko Ohkubo
    Department of Pediatrics, Neonatology and Congenital Disorders, Graduate School of Medical Sciences, Nagoya City University, 1 Kawasumi, Mizuho cho, Mizuho ku, Nagoya 467 8601, Japan
    J Hum Genet 51:118-23. 2006
    ..This result suggests that mutations classed as CYP2C19*3 might include other mutations. Further studies are needed to clarify the relationship between these novel mutations and enzyme activity...
  7. ncbi request reprint A simple quantitative assay for urinary adenosine using column-switching high-performance liquid chromatography
    Hiroko Taniai
    Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
    Tohoku J Exp Med 208:57-63. 2006
    ..We also measured urinary adenosine from patients suffering from metabolic disease or severe respiratory failure and found that unfavorable pathophysiologic conditions are associated with appreciable elevation of adenosine...
  8. ncbi request reprint Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry
    Yasuhiro Maeda
    Laboratory of Hospital Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Japan
    Rapid Commun Mass Spectrom 21:799-806. 2007
    ..The described HPLC/MS/MS method could separate most acylcarnitine isomers and quantify them, potentially allowing detailed diagnoses and follow-up treatment for those diseases...
  9. doi request reprint Genetic influences on the broad spectrum of autism: study of proband-ascertained twins
    Hiroko Taniai
    Nagoya Child Welfare Center, Nagoya, Japan
    Am J Med Genet B Neuropsychiatr Genet 147:844-9. 2008
    ..Autistic traits were highly heritable in twins with even broad spectrum of autism, corresponding to the results of early studies based on classical autism. Additive genetic factors were more influential in females than males...
  10. ncbi request reprint The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene
    Monica Arenas
    Purine Research Laboratory, Department of Chemical Pathology, Guy s Hospital, London, SE1 9RT, UK, and Department of Paediatrics, Neonatology and Congenital Disorders, Nagoya City University, Japan
    Biochim Biophys Acta 1772:96-102. 2007
    ....
  11. ncbi request reprint Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D
    Yumiko Ohkubo
    Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences, Nagoya, Japan
    Tohoku J Exp Med 205:335-42. 2005
    ..Notably, this novel mutation is associated with a vitamin B6-responsive phenotype. Therefore, early diagnosis and treatment with vitamin B(6) may prevent loss of vision in some patients with OAT deficiency...
  12. ncbi request reprint SSCP screening of the dihydropyrimidine dehydrogenase gene polymorphisms of the Japanese population using a semi-automated electrophoresis unit
    Yoshihiro Okamoto
    Faculty of Pharmaceutical Sciences, Chiba Institute of Science, 3 Shiomi cho, Choshi, Chiba, 288 0025, Japan
    Biochem Genet 45:713-24. 2007
    ..3%), which was considered appropriate for routine screening. Therefore, this strategy could be useful for pharmacogenetic studies on 5FU...