(Last updated : 2020-03-27 19:20:17)
  松田 純子
   Department     ,
■ Present specialized field
Embryonic medicine and pediatrics, Neuroscience-general, Structural biochemistry 
■ BooK
1. 2008   Sphingolipid activator proteins, Experimental Glycoscience: glycobiology 
2. 2007/01   Krabbe disease (Globoid cell leukodystrophy)., Lysosomal Storage Disorders. 
■ Journal
1. 2019/01 Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. 
2. 2018 Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease. 
3. 2017/01 A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe 
4. 2016/08 Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia 
5. 2015/06 The effects of chemically synthesized saposin C on glucosylceramide-beta-glucosidase 
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■ Presentation
1. 2019/09/19 Oligomerization of prosaposin in the brain of saposin D mutant mice  
2. 2019/09/18 Cross-talk between O-GlcNAcylation and sialic acid metabolism  
3. 2019/09/18 Neuropathological analyses of saposin D mutant mice  
4. 2019/08/20 Neuropathological analysis of saposin D mutant mouse  
5. 2019/07/26 Improvement of abnormal differentiation and maturation in Krabbe disease mouse oligodendrocytes  
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■ Winning science prize
1. 2001/11 The National Organization for Rare Disorders, Inc. (NORD), Research Award.