Seiji Yamaguchi

Summary

Affiliation: Shimane Medical University
Country: Japan

Publications

  1. ncbi request reprint Urinary organic acids in peroxisomal disorders: a simple screening method
    S Yamaguchi
    Department of Pediatrics, Shimane Medical University, Izumo, Japan
    J Chromatogr B Biomed Sci Appl 758:81-6. 2001
  2. ncbi request reprint [Clinical application of mass spectrometry in the pediatric field: current topics]
    Seiji Yamaguchi
    Department of Pediatrics, Shimane University School of Medicine, Izumo 693 8501, Japan
    Rinsho Byori 61:817-25. 2013
  3. doi request reprint Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay
    Hong Li
    Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan
    Brain Dev 32:362-70. 2010
  4. doi request reprint Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay
    Seiji Yamaguchi
    Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane 693 8501, Japan
    Mol Genet Metab 107:87-91. 2012
  5. doi request reprint A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University, Faculty of Medicine, 89 1 Enya, Izumo, Shimane 693 8501, Japan
    Mol Genet Metab 96:77-9. 2009
  6. doi request reprint Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan
    Anal Bioanal Chem 405:1345-51. 2013
  7. ncbi request reprint Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders
    Hong Li
    Department of Pediatrics, Shimane University School of Medicine, 89 1 Enya cho, Izumo, Shimane 693 8501, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 878:1669-72. 2010
  8. ncbi request reprint In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2
    Mitsuru Endo
    Department of Pediatrics, Shimane University School of Medicine, 89 1 En ya, Izumo, Shimane 693 8501, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 878:1673-6. 2010
  9. doi request reprint Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University Faculty of Medicine, Izumo 693 8501, Japan
    Mol Genet Metab 107:237-40. 2012
  10. doi request reprint Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University, Faculty of Medicine, Izumo, Japan
    Mol Genet Metab 98:372-7. 2009

Collaborators

Detail Information

Publications48

  1. ncbi request reprint Urinary organic acids in peroxisomal disorders: a simple screening method
    S Yamaguchi
    Department of Pediatrics, Shimane Medical University, Izumo, Japan
    J Chromatogr B Biomed Sci Appl 758:81-6. 2001
    ..Urinary organic acid analysis is indeed useful for screening subjects with peroxisomal disorders...
  2. ncbi request reprint [Clinical application of mass spectrometry in the pediatric field: current topics]
    Seiji Yamaguchi
    Department of Pediatrics, Shimane University School of Medicine, Izumo 693 8501, Japan
    Rinsho Byori 61:817-25. 2013
    ..Mass spectrometric techniques will expand from research laboratories to clinical laboratories in the near future...
  3. doi request reprint Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay
    Hong Li
    Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan
    Brain Dev 32:362-70. 2010
    ..Our approach is a simple and promising strategy to evaluate the effects of heat stress or therapeutic drugs on mitochondrial FAO...
  4. doi request reprint Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay
    Seiji Yamaguchi
    Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane 693 8501, Japan
    Mol Genet Metab 107:87-91. 2012
    ....
  5. doi request reprint A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University, Faculty of Medicine, 89 1 Enya, Izumo, Shimane 693 8501, Japan
    Mol Genet Metab 96:77-9. 2009
    ..This study suggests the genotypic difference between those of Caucasians and Japanese regarding MCADD...
  6. doi request reprint Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan
    Anal Bioanal Chem 405:1345-51. 2013
    ..Hence, intracellular AC profiling using the IVP assay under reduced C0 conditions is a useful method for diagnosing PCD or CPT1 deficiency...
  7. ncbi request reprint Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders
    Hong Li
    Department of Pediatrics, Shimane University School of Medicine, 89 1 Enya cho, Izumo, Shimane 693 8501, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 878:1669-72. 2010
    ....
  8. ncbi request reprint In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2
    Mitsuru Endo
    Department of Pediatrics, Shimane University School of Medicine, 89 1 En ya, Izumo, Shimane 693 8501, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 878:1673-6. 2010
    ..In conclusion, it is possible to distinguish MAD-S and MAD-M by in vitro probe acylcarnitine profiling assay with various fatty acids as substrates. This strategy may be applicable for other metabolic disorders...
  9. doi request reprint Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University Faculty of Medicine, Izumo 693 8501, Japan
    Mol Genet Metab 107:237-40. 2012
    ..Presymptomatic detection including neonatal screening obviously improves quality of life of Japanese patients, probably regardless of the genotypes...
  10. doi request reprint Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University, Faculty of Medicine, Izumo, Japan
    Mol Genet Metab 98:372-7. 2009
    ..Although the number of patients is still limited, it is suggested that the phenotype is correlated with the genotype and a combination of two mutant alleles of the HADHB gene in MTP deficiency...
  11. doi request reprint Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1
    Yuichi Mushimoto
    Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan
    Mol Genet Metab 102:343-8. 2011
    ..11.6┬▒12.7 months (range: 4-51 months)}. Our results suggest that early detection and treatment but not genotype are associated with better patient outcome, reinforcing the importance of neonatal screening...
  12. doi request reprint Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University Faculty of Medicine, 89 1 Enya, Izumo, Shimane 693 8501, Japan
    Mol Genet Metab 95:46-51. 2008
    ..This intronic exonization was caused by a deep intronic mutation in intron 7 on the paternal allele that generates a cryptic splice donor site. This is the first report of a deep intronic mutation in MTP deficiency...
  13. ncbi request reprint Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS)
    Yuichi Mushimoto
    Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane 693 8501, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 877:2648-51. 2009
    ..2AA showed the largest difference between patients and controls (p = 0.0004). Results suggested enzymatic evaluation of GA1 is useful under appropriate culture conditions...
  14. ncbi request reprint Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry
    Yuki Hasegawa
    Department of Pediatrics, Shimane University School of Medicine, 89 1 En ya cho, Izumo, Shimane 693 8501, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 823:13-7. 2005
    ..Prenatal diagnosis by analysis using simultaneous two or more methods may be more reliable, though attention should be paid to sample transportation conditions...
  15. doi request reprint A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence
    Mariko Yagi
    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan
    Mol Genet Metab 104:556-9. 2011
    ..However, it is likely that the neuromyopathic phenotype of MTP deficiency has not yet been diagnosed among patients with recurrences of intermittent myalgia and rhabdomyolysis, as in our patient reported here...
  16. ncbi request reprint Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan
    Go Tajima
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima 734 8551, Japan
    Pediatr Res 64:667-72. 2008
    ..Our practical enzymatic assay can be a useful test for the accurate diagnosis of VLCAD deficiency cases screened by MS/MS...
  17. doi request reprint Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS
    Jamiyan Purevsuren
    Department of Pediatrics, Shimane University Faculty of Medicine, 89 1 Enya, Izumo, Shimane 693 8501, Japan
    Brain Dev 30:520-6. 2008
    ..Influenza-associated encephalopathy (IAE) occurs in childhood often with a serious clinical course and fatal outcomes. We screened children with IAE using GC/MS to determine whether they have metabolic disorders such as organic acidemias...
  18. doi request reprint Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan
    Rie Tsuburaya
    Department of Pediatrics, Tohoku University School of Medicine, Aoba ku, Sendai, Japan
    Brain Dev 32:409-11. 2010
    ..We report herein a presymptomatic CPT I deficiency detected in a Japanese female newborn by tandem mass spectrometry newborn screening. A mutation analysis of the CPT1A gene revealed two novel mutations, p.R446X and p.G719D...
  19. doi request reprint A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501 1194, Japan
    Mol Genet Metab 100:339-44. 2010
    ..These results confirmed that c.951C>T diminished the effect of the exonic splicing enhancer and caused exon 10 skipping...
  20. ncbi request reprint ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders
    Hironori Kobayashi
    Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 855:80-7. 2007
    ..Urinary acylcarnitine profiles were not helpful for characterization of long-chain fatty acid disorders, but a combination of urine and blood acylcarnitine analysis was useful for differential diagnosis of carnitine deficit...
  21. doi request reprint Simplified method for the chemical diagnosis of organic aciduria using GC/MS
    Katsuhiro Nakagawa
    Department of Pediatrics, Shimane University School of Medicine, 89 1 En ya cho, Izumo, Shimane 693 8501, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 878:942-8. 2010
    ..The new method was successfully applied to the chemical diagnoses of five organic acidurias...
  22. doi request reprint Clinical and electrophysiological features of Japanese pediatric long QT syndrome patients with KCNQ1 mutations
    Kenji Yasuda
    Department of Pediatrics, Shimane University, Faculty of Medicine, Shimane, Japan
    Pediatr Int 50:611-4. 2008
    ..The purpose of the present paper was to determine the clinical and electrophysiological features of Japanese pediatric long QT syndrome (LQTS) patients with KCNQ1 mutations (LQT1)...
  23. ncbi request reprint Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
    Mitsugu Uematsu
    Department of Pediatrics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai, Japan
    J Hum Genet 52:1040-3. 2007
    ..The increasing use of MS/MS newborn screening in Japan will further clarify the clinical and genetic heterogeneity among patients with MCC deficiency in the Japanese population...
  24. doi request reprint A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501 1194, Japan
    Mol Genet Metab 100:37-41. 2010
    ..DNA diagnosis of T2 deficiency may be applicable to the Vietnamese population...
  25. doi request reprint Improvement of sample throughput using fast gas chromatography mass-spectrometry for biochemical diagnosis of organic acid disorders
    Shuichi Kawana
    Department of Pediatrics, Shimane University School of Medicine, 89 1 En ya cho, Izumo, Shimane 693 8501, Japan
    Clin Chim Acta 392:34-40. 2008
    ..The method is time-consuming and does not allow for improvements in sample throughput. Although the sample preparation and the data processing have been improved, the long GC/MS analysis time still remains to be problematic...
  26. doi request reprint Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2
    Yuka Yotsumoto
    Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane 693 8501, Japan
    Mol Genet Metab 94:61-7. 2008
    ....
  27. doi request reprint Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication
    Kenji Ihara
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka 812 8582, Japan
    Pediatrics 131:e327-30. 2013
    ..This information will aid in the identification of patients with OTC deficiency before a lethal metabolic crisis occurs during adolescence...
  28. ncbi request reprint Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan
    Go Tajima
    Department of Pediatrics, Hiroshima University Graduate School of Biomedical Sciences, Hiroshima 734 8551, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 823:122-30. 2005
    ..These results indicate that the method can be a useful confirmatory test for MS/MS screening of MCAD deficiency...
  29. ncbi request reprint Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl
    Chikako Oyama
    Department of Pediatrics, Akita University School of Medicine, Akita, Japan
    Pediatr Int 49:232-4. 2007
  30. doi request reprint Rotavirus-associated encephalopathy with a reversible splenial lesion
    Seiji Fukuda
    Department of Pediatrics, Shimane University School of Medicine, Izumuo, Shimane, Japan
    Pediatr Neurol 40:131-3. 2009
    ..Methylprednisolone was infused for 3 days. The disturbance of consciousness disappeared within 24 hours without any other complications, and the splenial signal and electroencephalogram returned to normal within 6 days...
  31. doi request reprint Idiopathic testicular infarction in a boy initially suspected to have acute epididymo-orchitis associated with mycoplasma infection and Henoch-Sch├Ânlein purpura
    Seiji Fukuda
    Department of Pediatrics, Shimane University School of Medicine, Izumuo, Japan
    J Pediatr Urol 5:68-71. 2009
    ..Our case indicates that the presence of sufficient blood flow upon initial diagnosis in the affected testis does not necessarily exclude infarction and continuous monitoring of blood flow may be required to avoid radical orchiectomy...
  32. doi request reprint A 14-year-old girl with hyperekplexia having GLRB mutations
    Jun Mine
    Department of Pediatrics, Shimane University School of Medicine, Japan
    Brain Dev 35:660-3. 2013
    ..Only four cases with GLRB mutations, including the present patient, have been reported. To make a definite diagnosis of hyperekplexia, it may be useful to screen for genes that are involved in the glycinergic neurotransmission system. ..
  33. ncbi request reprint Newborn screening in Japan: restructuring for the new era
    Seiji Yamaguchi
    Department of Pediatrics, Shimane University School of Medicine, 89 1 En ya cho, Izumo, Shimane 693 8501, Japan
    Ann Acad Med Singapore 37:13-5. 2008
    ..Furthermore, re-location of screening laboratories for a more efficient screening network will be required such that at least 30,000 samples can be analysed in each laboratory...
  34. ncbi request reprint Distal myopathy with rimmed vacuoles in a case of opercular syndrome
    Yoshitaka Toriumi
    Department of Pediatrics, Shimane University School of Medicine, Izumo 693 8501, Japan
    Brain Dev 28:458-61. 2006
    ....
  35. pmc Survivin selectively modulates genes deregulated in human leukemia stem cells
    Seiji Fukuda
    Department of Pediatrics, Shimane University School of Medicine, 89 1 Enya cho, Izumo, Shimane 693 8501, Japan
    J Oncol 2011:946936. 2011
    ..Pathways downstream of Survivin in LSC that are distinct from HSC can be potentially targeted for selective anti-LSC therapy...
  36. doi request reprint Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene
    Takeshi Taketani
    Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Japan
    Eur J Haematol 81:70-4. 2008
    ..These results indicate that NAIT is caused by maternal CD36 deficiency having CD36 splicing abnormalities...
  37. doi request reprint Pure red cell precursor toxicity by linezolid in a pediatric case
    Takeshi Taketani
    Division of Blood Transfusion, Shimane University Hospital, Izumo, Shimane, Japan
    J Pediatr Hematol Oncol 31:684-6. 2009
    ..Elevated protoporphyrin and a high LZD level in the blood suggested that mitochondrial disturbance by high-dose and long-term treatment with LZD may have been responsible for LZD-induced pure red cell precursor toxicity...
  38. doi request reprint A case with sacrococcygeal primitive myxoid mesenchymal tumor of infancy: a case report and review of the literature
    Atsuro Saito
    Departments of Pediatrics Radiology Organ Pathology, Shimane University Faculty of Medicine Division of Blood Transfusion, Shimane University Hospital Department of Digestive and General Surgery, Shimane University School of Medicine, Shimane Department of Cell Therapy and Transplantation Medicine, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
    J Pediatr Hematol Oncol 35:e280-2. 2013
    ..A diagnosis of primitive myxoid mesenchymal tumor of infancy should be considered in cases of soft tissue tumors in infants that show prominent vascularity but little contrast enhancement on MRI or CT. ..
  39. doi request reprint Simple and rapid analytical method for detection of amino acids in blood using blood spot on filter paper, fast-GC/MS and isotope dilution technique
    Shuichi Kawana
    Department of Pediatrics, Shimane University School of Medicine, 89 1 En ya cho, Izumo, Shimane 693 8501, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 878:3113-8. 2010
    ..These results indicate that this method provides a simple and rapid procedure for precise determination of amino acids in whole blood...
  40. ncbi request reprint [Pharmaceutical analysis and clinical efficacy of Kampo medicine, maoto, extract suppository against pediatric febrile symptoms]
    Nobuhiro Nishimura
    Department of Pharmacy, Shimane University Hospital, Izumo, Japan
    Yakugaku Zasshi 129:759-66. 2009
    ....
  41. ncbi request reprint Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene
    Masahiko Kimura
    Department of Pediatrics, School of Medicine, Shimane University, 89 1 Enya, Izumo, Shimane, 693 8501 Japan
    Brain Dev 28:228-31. 2006
    ..Four Japanese families have been reported as having hyperekplexia including our cases, of which three have shown the same missense Arg271Gln mutation, most frequently found in patients from Northern Europe and the United States...
  42. doi request reprint MNX1-ETV6 fusion gene in an acute megakaryoblastic leukemia and expression of the MNX1 gene in leukemia and normal B cell lines
    Takeshi Taketani
    Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan
    Cancer Genet Cytogenet 186:115-9. 2008
    ..This represents a novel case of an AMKL patient with MNX1-ETV6 fusion transcripts who had a good prognosis...
  43. doi request reprint Induction of differentiation of myeloid leukemia cells in primary culture in response to lithocholic acid acetate, a bile acid derivative, and cooperative effects with another differentiation inducer, cotylenin A
    Akiyoshi Horie
    Department of Life Science, Faculty of Medicine, Shimane University, Izumo, Shimane 693 8501, Japan
    Leuk Res 32:1112-23. 2008
    ..The cooperative effects of LCA acetate and cotylenin A on inducing differentiation were, at least partly, due to the enhancement of LCA acetate-induced MAPK activation by cotylenin A...
  44. pmc Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry
    Toshiyuki Fukao
    Department of Pediatrics, Graduate School of Medicine, Gifu University, 1 1 Yanagido, Gifu, 501 1194, Japan
    JIMD Rep 3:107-15. 2012
    ..T2-deficient patients with "mild" mutations have severe ketoacidotic crises but their chemical phenotypes may be subtle even during acute crises...
  45. ncbi request reprint [A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2]
    Anzu Takahashi
    Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane
    No To Hattatsu 40:38-41. 2008
    ..To our knowledge, there have been no previous reports of MAE in which autoantibody to GluR epsilon 2 was positive. It is suggested that autoimmunity in this case was associated with the pathogenesis of MAE...
  46. doi request reprint Rapid detoxification of cereulide in Bacillus cereus food poisoning
    Mitsutaka Shiota
    Kitano Hospital, Department of Pediatrics, 2 4 20, Ohgimachi, Kita ku, Osaka City, Osaka, Japan
    Pediatrics 125:e951-5. 2010
    ..These cases highlight the importance of measuring the value of cereulide, which would reflect the severity of B cereus emetic food poisoning. The cases also suggest the possible role of blood-purification therapy in severe cases...
  47. ncbi request reprint Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
    Daisuke Hori
    Department of Pediatrics, Faculty of Medicine, Shimane University, 89 1 En ya cho, Izumo, Shimane 693 8501, Japan
    Brain Dev 27:39-45. 2005
    ..We concluded that detection of such patients at the presymptomatic stages using newborn mass screening is essential for prognosis improvement with OAs...
  48. doi request reprint Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards
    Yoichi Morinishi
    Department of Pediatrics, National Defense Medical College, Saitama, Japan
    J Pediatr 155:829-33. 2009
    ..To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency (SCID)...