スポンサーリンク
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur | 論文
- A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
- Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis : a common mutation, R179X
- Common null variant, Arg192Stop, in a G-protein coupled receptor, olfactory receptor 1B1, associated with decreased serum cholinesterase activity
- Parents of childhood X-linked adrenoleukodystrophy : High risk for depression and neurosis
- 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
- Urinary organic acids in peroxisomal disorders : a simple screening method
- 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
- Epilepsy in Peroxisomal Diseases
- Trial of docosahexaenoic acid supplementation on a Japanese patient with a peroxisome biogenesis defect
- INCIDENCE OF PEROXISOMAL DISORDERS IN JAPAN
- Serum and CSF levels of cytokines in acute encephalopathy following prolonged febrile seizures
- Heterogeneity of Expression of Calponin and Metallothionein in Reactive Myoepithelial/Ductal Basal Cells of Obstructive Sialadenitis
- Phenotypic Changes of Calponin in Salivary Gland Myoepithelial Cells during Postnatal Development of Rats