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