refsum disease การใช้

• 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.
• House eventually determines that the patient has been eating a primarily vegetarian diet at the hospital, which in conjunction with Refsum disease has been causing his symptoms.
• Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia ( RDPA ), as well as other peroxisomal disorders, including both adult Refsum disease, and Zellweger syndrome.
• Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia ( RDPA ), as well as other peroxisomal disorders, including both adult Refsum disease, and Zellweger syndrome.
• Adult Refsum disease should not be confused with infantile Refsum disease, a peroxisome biogenesis disorder resulting from deficiencies in the catabolism of very long chain fatty acids and branched chain fatty acids ( such as phytanic acid ) and plasmalogen biosynthesis.
• Adult Refsum disease should not be confused with infantile Refsum disease, a peroxisome biogenesis disorder resulting from deficiencies in the catabolism of very long chain fatty acids and branched chain fatty acids ( such as phytanic acid ) and plasmalogen biosynthesis.
• Foundation-funded scientists at institutions throughout the world conduct research for the entire spectrum of retinal degenerative diseases including : retinitis pigmentosa, macular degeneration, Usher syndrome, Stargardt disease, Best disease, choroideremia, retinoschisis, Leber's congenital amaurosis, Bardet-Biedl syndrome, cone dystrophy, cone-rod dystrophy, rod-cone dystrophy, achromatopsia, Refsum disease, and other rare retinal degenerative diseases.