- A Korean Case of Infantile Krabbe Disease with a Novel GALC Gene Mutation
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Choi SH, Lee J, Lee S, Ki CS, Lee M
- KMID: 2329430
- J Korean Child Neurol Soc.
- 2009 Nov;17(2):209-214.
Krabbe disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the galactocerebrosidase(GALC) gene. The deficiency of GALC activity leads to the accumulation of psychosine, resulting in apoptosis... -
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