Orii T | Department Of Pediatrics Gifu University Graduate School Of Medicine

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著作論文

ムコ多糖症2型患者とその家族の精神心理学的検討
Evaluation of ADL in patients with Hunter disease using FIM score
Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies
Epidemiology of X-linked adrenoleukodystrophy in Japan
Urinary organic acids in peroxisomal disorders : a simple screening method
Epileptic seizures and structural abnormalities in a patient with holoprosencephaly
Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans
Two different pathological conditions of photoparoxysmal responses in hereditary dentatorubral-pallidoluysian atrophy
Epilepsy in Peroxisomal Diseases
Trial of docosahexaenoic acid supplementation on a Japanese patient with a peroxisome biogenesis defect
INCIDENCE OF PEROXISOMAL DISORDERS IN JAPAN
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
Developing a newborn screening system for Mucopolysaccharidoses
GAG Assay by Tandem Mass Spectrometry : Application to New-born Screening for Mucopolysaccahridoses
Practical Assay Method of Cytosolic Acetoacetyl-CoA Thiolase by Rapid Release of Cytosolic Enzymes from Cultured Lymphocytes Using Digitonin
Development of Morquio A Mice and Enzyme Replacement Therapy
Toward a new treatment : Role of International Morquio Registry
A New Approach to Develop Mice Model
Spectrums of Mutations in Mucopolysaccharidosis IVA (Morquio disease) gene
Purification and Properties of Rat Liver Peroxisomal Very-Long-Chain Acyl-CoA Synthetase^1
INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME 10 : REPORT OF A CASE AND REVIEW OF THE LITERATURE
Optimization of Electroporation for Transfection of Human Fibroblast Cell Lines with Origin-Defective SV40 DNA: Development of Human Transformed Fibroblast Cell Lines with Mucopolysaccharidoses (I〜VII)
MUCOPOLYSACCHARIDOSIS IVA : A NOVEL SPLICE ACCEPTOR SITE MUTATION IN INTRON 4 OF THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN AN AFGHANISTAN GIRL WITH CLASSICAL MORQUIO DISEASE
Biochemical and Immunocytochemical Properties of Peroxisomes and Mitochondria in Bovine Chromaffin Cells
Different Intracellular Localization of Peroxisomal Proteins in Fibroblasts form Patients with Aberrant Peroxisome Assembly

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