Yamaguchi Seiji | 島根大学医学部小児科

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著作論文

Pilot study on neonatal mass screening for inborn errors of metabolism by gas chromatography-mass spectrometry : eighteen months experience in Shimane Area
Urinary organic acids in peroxisomal disorders : a simple screening method
INCIDENCE OF PEROXISOMAL DISORDERS IN JAPAN
Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper : determination of α-ketoacids
Gas chromatography-mass spectrometry with tert.-butyldimethylsilyl derivatization : use of the simplified sample preparations and the automated data system to screen for organic acidemias
Gas chromatography-mass spectrometry with tert. -butyldimethylsilyl derivatization : use of the simplified sample preparations and the automated data system to screen for organic acidemias
Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry
A survey of Japanese patients with mitochondrial fatty acid β-oxidation and related disorders as detected from 1985 to 2000
Rapid, simplified and sensitive method for screening fructose-1, 6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode
Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders
KCNQ1遺伝子変異を伴う日本人小児QT延長症候群患者の臨床的、電気生理学的
Developing a newborn screening system for Mucopolysaccharidoses
Clinical and biochemical studies on Chinese patients with methylmalonic acidumia
GAG Assay by Tandem Mass Spectrometry : Application to New-born Screening for Mucopolysaccahridoses
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
Practical Assay Method of Cytosolic Acetoacetyl-CoA Thiolase by Rapid Release of Cytosolic Enzymes from Cultured Lymphocytes Using Digitonin
Novel mutation of methylmalonyl-CoA mutase gene causing the mut^0 form of methylmalonic acidemia in a Japanese girl
Distal myopathy with rimmed vacuoles in a case of opercular syndrome
Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene
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
Serial magnetic resonance angiography in cerebral infarction after varicella infection
Transcatheter closure of patent ductus arteriosus in an infant weighing 1180 g
A Variant case of congenital bilateral perisylvian syndrome with asymmetric findings on neuroimaging and septum pellucidum defect
A case of West syndrome well controlled by very short and low-does ACTH therapy
Prenatal and postnatal evaluation of Dandy-Walker malformation : a case report
Brain holding spells in early infancy
Clinical study of partial epilepsies occurring before two years of life
Nonimmunologic fetal hydrops and chromosomal disorder : two cases of Down syndrome associated with hematopoietic abnormalities
Carnitine Palmitoyltransferase 2 Deficiency : The Time-Course of Blood and Urinary Acylcarnitine Levels during Initial L-Carnitine Supplementation
Glutaric Aciduria Type II in a Thai Infant
Different Intracellular Localization of Peroxisomal Proteins in Fibroblasts form Patients with Aberrant Peroxisome Assembly
Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan
Effect of heat stress and bezafibrate on mitochondrial β-oxidation : Comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2
Heat stress deteriorates mitochondrial β-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid β-oxidation disorders
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)
Adenovirus serotype 31 infection in a newborn girl and review of the literature

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