Fujii Yuji | Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori University
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Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori University | 論文
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
- Accumulation of cholesterol and G_ ganglioside in cells cultured in the presence of progesterone:an implication for the basic defect in Niemann-Pick disease typc C
- Increased levels of GM_2 ganglioside in fibroblasts from a patient with juvenile Niemann - Pick disease type C
- Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin : A new syndrome?
- Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients