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Department of Pediatrics Gifu University School of Medicine | 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
- 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
- III C1 Probable molecular dysfunction by autoantibodies against NMDA receptor GluRe2 in epilepsies after acute encephalitis
- Urinary organic acids in peroxisomal disorders : a simple screening method
- Epileptic seizures and structural abnormalities in a patient with holoprosencephaly
- The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6
- The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil
- Congenital myotonic dystrophy : report of paternal transmission
- Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans
- Prenatal diagnosis of peroxisomal d-3-hydroxyacyl-CoA dehydratase / d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency
- A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata
- 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
- Various Expression Patterns of α1 and α2 Genes in IgA Deficiency
- Age-Related Changes of Transforming Growth Factor β1 in Japanese Children