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Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.

Zhou XiaYin WenwenYu XianfengHu PanpanZhu XiaoqunZhongwu Sun
Published in: Molecular genetics & genomic medicine (2020)
This patient with a homozygous GALC mutation expands the clinical presentation and characteristics of adult-onset KD, as indicated by grey matter atrophy without abnormal white matter signals.
Keyphrases
  • white matter
  • multiple sclerosis
  • magnetic resonance imaging
  • case report
  • contrast enhanced
  • magnetic resonance