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Infantile Refsum Disease - Wikipedia, The Free Encyclopedia Infantile Refsum disease (IRD), also called infantile phytanic acid storage disease is a rare autosomal recessive peroxisomal biogenisis disorder within the Zellweger spectrum. http://en.wikipedia.org/wiki/Infantile_Refsum_disease
Health Catalog Related Sites Refsums Disease Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. http://www.nutralegacy.com/ghealth/cat/434084/
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Refsum's Disease (www.whonamedit.com) Refsum's disease A rare disorder characterized by phytanic acid accumulation in the blood and tissues. Also known as Refsum's syndrome,RefsumThi baut disease,Refsum-Thi baut http://www.whonamedit.com/synd.cfm/3304.html
Infantile Refsum Disease Information Page National Institute Of Infantile Refsum Disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm
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Refsum's Disease - Definition Of Refsum's Disease In The Medical disease /dis ease/ (dĭzēz ) any deviation from or interruption of the normal structure or function of any body part, organ, or system that is manifested by a characteristic set http://medical-dictionary.thefreedictionary.com/Refsum's disease
Kennedy Krieger Institute Ann B. Moser, B.A. Ann B. Moser, B.A. Research Scientist, Kennedy Krieger Institute Ann Moser is a Research Associate in Neurology at Kennedy Krieger Institute and Johns Hopkins University. http://www.kennedykrieger.org/kki_staff.jsp?pid=1899
Refsum's Disease Doctor Patient UK Scriver CR et al. Complete summary of Refsums disease. Brown PJ et al. Diet and Refsums Disease. J Hum Nutr Dietet 1993;6295305; Lou JS, Snyder R, Griggs RC; Refsum's disease long http://www.patient.co.uk/showdoc/40001285/
Peroxisomal Disorders Inherited Disorders Of Metabolism Merck Peroxisomes are intracellular organelles that contain enzymes for βoxidation. These enzymes overlap in function with those in mitochondria, with the exception that mitochondria http://www.merck.com/mmpe/sec19/ch296/ch296h.html
Refsums Disease - Two Articles About This Disease, Clinical Health, Conditions and Diseases, Nutrition and Metabolism Disorders, Cholesterol and Other Fats Refsums Disease. Two articles about this disease, clinical description http://www.abc-directory.com/site/994820
Looking For A Family With Refsum - Krabbe's Kids Family Message Board Do you know anyone with Refsums disease? Refsums disease is a recessive genetic disorder in which the patient is unable to break down phytanic acid in the body. http://www.krabbes.org/forum/forum_posts.asp?TID=2201&get=last
Heredopathia Atactica Polyneuritiformis (refsum's Disease) Treated 1. Lancet. 1979 Mar 17;1(8116)5758. Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange. Gibberd FB, Billimoria JD, Page NG, Retsas S http://www.ncbi.nlm.nih.gov/pubmed/85164
Professor C.J. Schofield The Chemical Biology of Refsums Disease PhytanoylCoA hydroxylase (PhyH) is one of the enzymes required for the metabolism of phytanic acid, a dietary-acquired fatty acid derived http://research.chem.ox.ac.uk/christopher-schofield.aspx
DIET FOR TREATMENT OF REFSUM’S DISEA The Dietary Management of Adult Refsums Disease . In 1963 it was shown that sufferers from Adult Refsum’s disease accumulate phytanic acid in serum and body tissues, and http://www.refsum.de/infos/refsums_dietsheetjuly05.htm