61. Australian Leukodystrophy Support Group Inc Back to Main List REFSUM S disease. Refsum s disease is caused by providinga positive initial response. INFANTILE REFSUM S disease (IRD). http://home.vicnet.net.au/~leuko/refsum.html

62. Refsum Disease - Medical Wisdom Health Advice And Information Refsum disease Information Page. Table of Contents (click to jump to sections).What is Refsum disease? Is there any treatment? What is the prognosis? http://medicalwisdom.com/health/disorders/refsum_doc.htm

Join our Message Board Forum Health Concerns Women's Health ... Dental Health Concerns Refsum Disease Information Page Table of Contents (click to jump to sections) What is Refsum Disease? Is there any treatment? What is the prognosis? What is Refsum Disease? Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering-which acts as an insulator-on nerve fibers in the brain. Refsum disease is characterized by the abnormal accumulation of phytanic acid in blood plasma and tissues. (Phytanic acid is not made in the human body; it comes from the diet-dairy products, beef, lamb, and some seafood). Symptoms of the disorder may include vision impairments (retinitis pigmentosa), peripheral neuropathy, ataxia (impaired muscle coordination), impaired hearing, and bone and skin changes. Nystagmus (rapid, involuntary to-and-fro eye movements), anosmia (absence of the sense of smell), and ichthyosis (a skin disorder causing dry, rough, scaly skin) may also occur. Onset of Refsum disease varies from early childhood to age 50, however, symptoms usually appear by age 20. The disorder affects both males and females. Is there any treatment?

63. Infantile Refsum Disease - Medical Wisdom Health Advice And Information Infantile Refsum disease Information Page. Table of Contents (click to jump tosections). What is Infantile Refsum disease? Is there any treatment? http://medicalwisdom.com/health/disorders/refsum_infantile_doc.htm

Join our Message Board Forum Health Concerns Women's Health ... Dental Health Concerns Infantile Refsum Disease Information Page Table of Contents (click to jump to sections) What is Infantile Refsum Disease? Is there any treatment? What is the prognosis? What is Infantile Refsum Disease? Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. Symptoms may include visual impairments including retinitis pigmentosa and nystagmus (rapid, involuntary jerky eye movements), hearing impairments, hypotonia (decreased muscle tone), failure to thrive, developmental delay, ataxia (impaired muscle coordination), hepatomegaly (enlargement of the liver), hypocholesterolemia (an abnormally diminished amount of cholesterol in the blood), and mild facial dysmorphism (abnormalities in the form and structure of the face). Onset of the disorder begins in early infancy. Is there any treatment?

64. Refsum S Disease Refsum s disease. Zellweger syndrome and, less severely, in NALD. Nomalformation has been reported in infantile Refsum’s disease. http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNF3IE03.htm

Refsum's Disease NeuroLearn NeuroHelp Metabolic Peroxisomal disorders, classification ... Gross Pathology BACKGROUND AND CLINICAL INFORMATION Head Spectrum: Zellweger syndrome , neonatal adrenoleukodystrophy (NALD), and Infantile Refsum’s disease constitute a disease continuum of peroxisomal disorders. Migration disorders, can be seen in both Zellweger syndrome and, less severely, in NALD. No malformation has been reported in infantile Refsum’s disease. Biochemistry: This is an autosomal recessive disorder due to phytanic acid acid oxidase deficiency. Phytanic acid accumulates in serum and a variety of tissues. Clinical manifestation s In contrast to other peroxisomal disorders, the principal manifestation of Refsum’s disease is in peripheral nerves. Clinical manifestations start in the 2 nd and 3 rd decade. The salient clinical feature is chronic distal symmetrical sensorimotor neuropathy of variable onset. Some patients have progressive symptomrs and others may have relapsing remitting symptoms. There are also ataxia, blindness, sensorineural deafness, anosmia, ichthyosis and cardiomyopathy. Patients usually die in their middle age years.

65. European Refsum Disease Project - Home Home. News new stuff! Last update 200404-20© by AERGA Utrecht, The Netherlands. http://www.aerga.nl/

Home wireless secure networking webshop ... nederlands Please contact : AERGA Potgieterstraat UTRECHT +31-30-XXXXXX Home News new stuff!

66. European Refsum Disease Project - Home Home. News Draadloos Internet Helpt Boerenbedrijf Naar De Toekomst. Een snelleinternetverbinding helpt meer winst te halen uit het boerenbedrijf. http://www.aerga.nl/index.php?menuid=1000&lang=nl&cl=blue&q=

67. NINDS Infantile Refsum Disease Information Page Infantile Refsum disease information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). More about Infantile Refsum disease, http://www.ninds.nih.gov/health_and_medical/disorders/refsum_infantile_doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Infantile Refsum Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Infantile Refsum Disease Information Page Synonym(s): Infantile Phytanic Acid Storage Disease, Refsum Disease - Infantile Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Infantile Refsum Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Infantile Refsum Disease? Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. Symptoms may include visual impairments including retinitis pigmentosa and nystagmus (rapid, involuntary jerky eye movements), hearing impairments, hypotonia (decreased muscle tone), failure to thrive, developmental delay, ataxia (impaired muscle coordination), hepatomegaly (enlargement of the liver), hypocholesterolemia (an abnormally diminished amount of cholesterol in the blood), and mild facial dysmorphism (abnormalities in the form and structure of the face). Onset of the disorder begins in early infancy.

68. Text Only Macular Degeneration Retinitis Pigmentosa Usher Printer Friendly Version Refsum, What is Refsum disease? Refsum disease is anextremely rare and complex disorder that affects many parts of the body. http://www.blindness.org/visiondisorders/causes.asp?type=24

69. REFSUM DISEASE : A Mystery Of Inherited Human Afflication. Can Mendelian Genomic REFSUM disease A mystery of inherited human afflication. 2. AlphaAdrenoceptorBlockers in Cardiovascular disease by Helge Refsum, Ole D. Mjos (Editor). http://databank.oxydex.com/compendium_bibliographium/awaiting_human_genome/REFSU

REFSUM DISEASE : A mystery of inherited human afflication. Can Mendelian genomics solve the puzzle? Find out. If not, at least check some basic references. For medical professionals and scientists. Highly Recommended Resources Hand Picked to save you valuable searching time. welcome (C) 2000 Omegapoint Network Enterprises "The most incomprehensible thing about the world is that it is comprehensible." - Albert Einstein More Einstein Quotes bookmark this page for easy return ... you just might think of something later. Informatorium recommendations listed below: Books Search Results: 2 total matches for "REFSUM DISEASE" Myocardial Ischemia and Protection by Helge Refsum(Editor). Hardcover (April 1983) Our Price:$59.00 Special Order Alpha-Adrenoceptor Blockers in Cardiovascular Disease by Helge Refsum, Ole D. Mjos (Editor). Out of PrintTry our out-of-print search service! powered by Creative Power! Note: Some items may be out of stock or even out of print; prices subject to change.

70. DISEASE: Refsum's Disease disease Featured Web Pages. Infantile Refsum disease Sourcebook www.icongrouponline.com The Official Patient s Sourcebook on Infantile Refsum disease. http://disease.bigtome.com/big/page/Refsum's_Disease

DISEASE: Featured Web Pages Infantile Refsum Disease Sourcebook - www.icongrouponline.com "The Official Patient's Sourcebook" on Infantile Refsum Disease. A comprehensive manual for anyone interested in self-directed research on Infantile Refsum Disease. Disease Guide at WebMD - www.medscape.com Disease guide at WebMD. Read articles, news, treatment information and a wealth of health care advice in our comprehensive online guide. Join and receive a free newsletter. Categories (1-2 of 2) Health: Conditions_and_Diseases: Nutrition_and_Metabolism_Disorders: Cholesterol_and_Other_Fats: Refsum's Health: Conditions_and_Diseases: Neurological_Disorders: Demyelinating_Diseases: Leukodystrophy Web Pages Refsum's Diet Very in depth discussion about the foods and diet of some one whom has refsum's disease. - http://www.alphalink.com.au/~dijon/index3.htm Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Refsum%27s Family Village / Library / Leukodystrophy Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease. - http://www.familyvillage.wisc.edu/lib_leukodystrophy.html

71. Atypical Retinitis Pigmentosa - ? Refsum Disease Refsum disease (Please wait for the content to download) How did discussionproceed ? Dr Prakash Vichare, It s Infantile Refsum disease*. http://pediaindia.net/archive/refsum.shtml

72. Neuromuscular Diseases (AU). Refsum disease. A mini factsheet about Refsum disease NINDS/NIH (US). Onthe Genetics of Refsum disease - NCBI/NIH (US). About Refsum disease - OMIM (US). http://www.mic.ki.se/Diseases/C10.668.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Neuromuscular Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Amyotrophic Lateral Sclerosis Brachial Plexus Neuritis Brachial Plexus Neuritis Brachial Plexus Neuropathies ... Ulnar Nerve Compression Syndromes Neuromuscular Diseases Motor Cortex illustration [Earles et al.] - Furman Univ. (US) EMG and Nerve Conductions Homepage [JF Jabre] The Neuromuscular Disease Information Center - REHABinfo Network/UC-Davis (US) Neuromuscular Diseases - MDA (US) Neuromuscular Disorders [Nadeau and Valenstein] - Univ of Florida (US) About some Neuromuscular Diseases - Wake Forest Univ. Neuromuscular Disorders Information - Musc Dystrophy Group of (UK)+ N. Ireland Neuromuscular Disease Center , and a collection of one-page summaries of Differential Diagnoses of Neuromuscular Syndromes - School of Medicine/Washington Univ., St Louis (US)

73. Nutritional And Metabolic Diseases (US). Infantile Refsum disease Information Stephens and Harris (US). Refsumdisease - The Peroxisome Website. About Refsum disease, Infantile Form - OMIM (US). http://www.mic.ki.se/Diseases/C18.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Nutritional and Metabolic Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Acid-Base Imbalance Acidosis Alkalosis Alkaptonuria ... Wolman Disease Nutritional and Metabolic Diseases FDA Center for - (US) International Union of Nutritional Sciences - (AU) The Nutrition Navigator (rating guide) at Tufts University The USDA Nutrient Database for Standard Reference, rel 13 - (US) NATS - Nutritional Analysis Tool and System About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and

74. British National Formulary: Refsum's Disease Refsum s disease. Fresubin Original Liquid and Sip Feeds. http://www.bnf.org/bnf/bnf/current/doc/28817.htm

Printed from: Joint Formulary Committee. British National Formulary . 47 ed. London: British Medical Association and Royal Pharmaceutical Society of Great Britain; 2004. BNF Skip navigation Previous Next Home ... Foods which may be prescribed on FP10, GP10 (Scotland), or when available WP10 (Wales) Refsum's Disease Fresubin Original Liquid and Sip Feeds. Top Next: Renal dialysis» Use a no-framed version BNF © British Medical Association and Royal Pharmaceutical Society of Great Britain ... Accessibility

75. Refsum Disease, Peroxisomes And Phytanic Acid Oxidation: A Review 11, pp. 1021–1031. Refsum disease, Peroxisomes and Phytanic Acid Oxidation AReview. Keywords Fatty acids, Genetic diseases, Peroxisomes, Refsum disease. http://apt.allenpress.com/aptonline/?request=get-abstract&issn=0022-3069&volume=

76. Refsum's Disease 3. Refsum s disease (disorder of lipid metabolism) a) Biochemical defectdeficiency of phytanic oxidase; increased phytanic acid in plasma. http://kobiljak.msu.edu/CAI/Pathology/Toxic_F/Toxic_3b4.html

3. Refsum's Disease (disorder of lipid metabolism) a) Biochemical defect: deficiency of phytanic oxidase; increased phytanic acid in plasma. b) Clinical expression: peripheral neuropathy signs, sometimes cerebellar signs. c) Therapy: low phytol diet (phytol is a component of foods derived from some plants). d) Pathological Characteristics -hypertrophic interstitial neuropathy -sometimes associated with cerebellar degeneration. Previous Section Course Index Section Index Next Section

77. Refsum Disease Refsum disease Refsum disease factsheet National Institute for NeurologicalDisorders and Stroke. Support Groups Climb The Quadrangle http://www.ion.ucl.ac.uk/library/patient/refsum.htm

Refsum Disease Refsum Disease factsheet: National Institute for Neurological Disorders and Stroke Support Groups Climb The Quadrangle, Crewe Hall, Weston Road, Crewe, Cheshire CW1 6UR Tel: 01270 250221 (information, advice and support to parents and professionals involved with metabolic diseases). The office is open 9.00am - 5.00pm Mondays to Fridays. Fax: 01270 250244 A national umbrella organisation working on behalf of children, young people and families affected by metabolic disease. Offers a telephone helpline for information, counselling and support; written information by post (detailed information only available following confirmed diagnosis, appropriate professional counselling and telephone contact); details of other agencies and sources of help; information about the latest research and whom to contact for specialist advice etc.

78. ORPHANET® Refsum Disease ORPHANET. Orphanet database access. Refsum disease. Direct access to data Orphanetdatabase access. Refsum disease, infantile form. Direct access to data http://www.orpha.net/static/GB/refsumdisease.html

79. ORPHANET - Rare Diseases - Orphan Drugs Printing version, disease Refsum disease, Synonym Included disease(s)Refsum disease, with increased pipecolicacidemia, ICD G60.1, Refsum s http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=773

80. NEJM -- Sign In Correspondence from The New England Journal of Medicine PhytanoylCoenzymea Hydroxylase Deficiency The Enzyme Defect in Refsum s disease. http://content.nejm.org/cgi/content/full/337/2/133

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