Geometry.Net - Health_Conditions: Refsums Disease

Svenska RP-föreningen: Refsums Sjukdom
Two articles about this disease, clinical description, inheritance, treatmentand related diseases and syndromes.
http://www.srpf.a.se/forsk/refsum.html

Extractions: Individuals with Refsum disease are unable to metabolize phytanic acid. As a result, high levels of phytanic acid accumulate in blood and tissue. It is thought that disorders associated with this disease result from harmful levels of phytanic acid. Phytanic acid is found in meat, fish, and dairy products. The body also converts phytol, a substance found in green leafy vegetables, to phytanic acid. Refsum disease is usually diagnosed during childhood or young adulthood when vision problems due to RP become apparent. Progressive vision loss from RP begins when harmful levels of phytanic acid collect beneath the retina. The retina is essential to vision as it converts light into electrical impulses and then transfers these impulses to the brain via the optic nerve. The first symptom of RP is night blindness followed by a gradual loss of peripheral (side) vision. Night blindness makes vision difficult in dark or dimly lit places. The loss of peripheral vision is often referred to as tunnel vision. RP tends to progress slowly in patients with Refsum disease.
Refsums Disease
Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes.
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Refsum Disease Information Page National Institute Of
Information sheet on this disease as to what it is, the symptoms, treatment and research being done.
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Refsum Disease
The clinical and biochemical presentation of this disease, the causes and treatment are discussed.
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Do You Know Anyone With Refsums Disease? -- 312 (7043): 1388 -- BMJ
refsums disease is a recessive genetic disorder in which the patient is unable There may be other people with refsums disease who have had difficulties
http://bmj.bmjjournals.com/cgi/content/full/312/7043/1388

Extractions: Vol Page [Advanced] This article Respond to this article Alert me when this article is cited Alert me when responses are posted Alert me when a correction is posted Services Email this article to a friend Find similar articles in BMJ Alert me to new issues of the journal Download to citation manager BMJ Refsums disease is a recessive genetic disorder in which the patient is unable to break down phytanic acid in the body. The main manifestations are retinitis pigmentosa and peripheral neuropathy, although other problems can occur such as anosmia, ichthyosis, deafness, ataxia, cardiac arrhythmias, and, less commonly, congenital abnormalities. The disease is rare so diagnosis may be difficult. I was eventually diagnosed as having the disease in 1994 when I was 27, although I had been ill since I was 14 and had been diagnosed as having first rheumatoid arthritis and then a psychiatric disorder. There may be other people with Refsums disease who have had difficulties being diagnosed and getting the appropriate help.
The Family Village / Library / Leukodystrophy
Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease.
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BMJ -- Table Of Contents (312 [7043])
Do you know anyone with refsums disease? BMJ 1996; 312 1388. Full text Skin Disease in Childhood and Adolescence Martin Keefe Full text
http://bmj.bmjjournals.com/content/vol312/issue7043/
Refsum Disease
Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath on nerve fibers in the
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Refsum S Disease
Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes
http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/REFSUMS DISEAS

Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Refsum's disease, (Sigvald Bernhard Refsum, 20th century, Norwegian physician), a genetically transmitted disorder of phytanic acid metabolism characterized by elevated protein concentrations in the cerebrospinal fluid, cerebellar ataxia, peripheral polyneuropathy and retinitis pigmentosa. On radiographs, irregularity of vertebral bodies and shortening of the metatarsals, metacarpals and phalanges are observed. A short conical terminal phalanx of the thumb is characteristic of Refsum's disease. Epiphyseal abnormalities reminiscent of ischaemic necrosis may also be seen.
Refsums Disease - Descipher Health
refsums disease
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Refsum's Disease
Sigvald Refsum first described the disease that bears his name in 1940's.Refsum's disease is an autosomal recessive disorder.
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Do You Know Anyone With Refsums Disease? 312 (7043) 1388 BMJ
Do you know anyone with refsums disease?
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Penn State Faculty Research Expertise Database (FRED)
Infantile Refsum s Disease, Peroxisomal Dysfunction, General refsums disease,Infantile, Single Peroxisomal Dysfunction. Single Peroxisomal Dysfunctions
http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D018901
IngentaConnect Hearing Loss In Adult Refsums Disease
Hearing loss in adult Refsum's disease Authors Bamiou D.E.1; Spraggs P.R.D.1; Gibberd F.B.1; Sidey M.C.1; Luxon L.M.1
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All Showcase - Refsum's Disease
All Showcase Refsum s Disease. refsums disease Two articles about this disease, clinicaldescription, inheritance, treatment and related diseases and syndromes.
http://www.allshowcase.com/Health_and_Fitness/Conditions_and_Diseases/R/Refsum,0
Refsums Disease
Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Refsum's refsums disease Previous
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Refsum S Disease
Refsum s disease,. Print this article, (Sigvald A short conical terminal phalanxof the thumb is characteristic of Refsum s disease. Epiphyseal
http://www.amershamhealth.org/medcyclopaedia/volume III 1/REFSUMS DISEASE.ASP

Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Refsum's disease, (Sigvald Bernhard Refsum, 20th century, Norwegian physician), a genetically transmitted disorder of phytanic acid metabolism characterized by elevated protein concentrations in the cerebrospinal fluid, cerebellar ataxia, peripheral polyneuropathy and retinitis pigmentosa. On radiographs, irregularity of vertebral bodies and shortening of the metatarsals, metacarpals and phalanges are observed. A short conical terminal phalanx of the thumb is characteristic of Refsum's disease. Epiphyseal abnormalities reminiscent of ischaemic necrosis may also be seen.
Refsum S Disease
Browse entry words starting with A, B, C, D, E, F, G, H, I, J, K, L, M, N, O, P,Q, R, S, T, U, V, W, X, Y, Z, Other characters, Refsum s disease,. Print this
http://www.amershamhealth.org/medcyclopaedia/volume VII/REFSUMS DISEASE.ASP

Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Refsum's disease, (Sigvald Refsum, born 1907, Norwegian neurologist), deficiency of the enzyme phytanic acid hydroxylase which results in accumulation of phytanic acid in liver, kidney, heart and peripheral nerves. Inheritance is autosomal recessive. The clinical manifestations are visual deterioration, ichtyosis and renal impairment. Radiologically there is osteopenia in the infantile form, and mild epiphyseal dysplasia with irregular flattening of the epiphysis.
Professor C.J. Schofield
The Chemical Biology of refsums disease. PhytanoylCoA hydroxylase (PhyH) isone of the enzymes required for the metabolism of phytanic acid,
http://www.chem.ox.ac.uk/researchguide/cjschofield.html

Extractions: University of Oxford Home Admissions Undergraduate Course Postgraduate Information ... myDegree Our research is driven by a desire to apply chemical principles and techniques to understanding biology. We apply the knowledge gained in the design and synthesis of enzyme inhibitors for therapeutic use understanding biosynthetic and signaling pathways and in developing new methods for the preparation of antibiotics. A variety of techniques are used in our research, including synthetic chemistry, enzyme purification and characterisation, cloning/mutagenesis, and biophysical techniques including X-ray crystallography, NMR and mass spectrometry. All of our projects involve interesting chemistry combined with biomedicinal applications in vivo biosynthetic pathways. We have shown that these enzymes are involved in a novel oxygen sensing mechanism in humans and together with researchers at the Wellcome Trust Centre for Human Genetics are exploring the therapeutic potential of this discovery for cardiovascular disease and cancer.
Infantile Refsum S Disease
Other characters, Infantile refsum s disease,. Print this article, See Refsumsdisease. HC. The Encyclopaedia of Medical Imaging Volume VII.
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Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Infantile refsum's disease, hypotonia, transient jaundice, diarrhoea, hepatomegaly, seizures and psychomotor and growth retardation. Radiologically, there is osteopenia with increased signal on T2-weighted images in the dentate nuclei. See Refsums disease

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