refsum diseaseの例文

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  1. Infantile Refsum disease can also affect the function of many other organ systems.
  2. Refsum disease 2 stems from mutations in the peroxin 7 ( PEX7 ) gene.
  3. Infantile Refsum disease is a developmental brain disorder.
  4. The symptoms are similar to those of adult Refsum disease and usually appear in the late teens or early twenties.
  5. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome.

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