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Department Of Pediatrics Shimane University School Of Medicine | 論文
- Pilot study on neonatal mass screening for inborn errors of metabolism by gas chromatography-mass spectrometry : eighteen months experience in Shimane Area
- Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders
- Epidemiology of X-linked adrenoleukodystrophy in Japan
- Urinary organic acids in peroxisomal disorders : a simple screening method
- Congenital myotonic dystrophy : report of paternal transmission
- A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata
- Epilepsy in Peroxisomal Diseases
- Characteristic findings of auditory brainstem response and otoacoustic emission in the Bronx waltzer mouse
- Induction Concurrent Chemoradiation Therapy for Invading Apical Non-Small Cell Lung Cancer
- 有機金属化合物分解法によるLa_2Ti_2O_7ナノ結晶の低温合成(イノベーティブセラミックス(I))
- Molecular analysis of AVPR2 gene in a Japanese patient With X-linked nephrogenic diabetes insipidus, congenital heart disease and mental retardation
- 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
- HTLV-1 provirus load in peripheral blood lymphocytes of HTLV-1 carriers is diminished by green tea drinking
- Evaluation of sphingolipids in vitreous bodies from a patient with Gaucher disease, using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry
- Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients