- Urinary uracil in female patients with ornithine transcarbamylase deficiencySatoshi 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...
- Sibling risk of pervasive developmental disorder estimated by means of an epidemiologic survey in Nagoya, JapanSatoshi 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...
- 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...
- Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based familiesTakeshi 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...
- Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese populationTohru 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...
- Novel mutations in the cytochrome P450 2C19 gene: a pitfall of the PCR-RFLP method for identifying a common mutationYumiko 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...
- A simple quantitative assay for urinary adenosine using column-switching high-performance liquid chromatographyHiroko 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...
- Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometryYasuhiro 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...
- Genetic influences on the broad spectrum of autism: study of proband-ascertained twinsHiroko 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...
- The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA geneMonica 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....
- Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237DYumiko 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...
- SSCP screening of the dihydropyrimidine dehydrogenase gene polymorphisms of the Japanese population using a semi-automated electrophoresis unitYoshihiro 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...