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globoid cell (Krabbe) leukodystrophy


dysmyelinating disease

  • autosomal recessive
  • usually presents by 1 yr
  • specific enzyme deficiency identified

  • rapid spontaneous nystagmus
  • poikilothermia


Charles E. Kahn, Jr., MD  -  7 July 1995
Last updated:  1 October 2013


 

Related CHORUS documents:
leukodystrophy
adrenoleukodystrophy
Pelizaeus-Merzbacher syndrome
Alexander disease
metachromatic leukodystrophy
dysmyelinating disease

 

Copyright © 2013, Charles E. Kahn, Jr.