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         Refsums Disease:     more books (15)
  1. The Official Parent's Sourcebook on Infantile Refsum Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18
  2. The Official Parent's Sourcebook on Refsum Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09-12
  3. Alpha-Adrenoceptor Blockers in Cardiovascular Disease by Helge Refsum, 1985-06
  4. Refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Oren, MD, PhD Traub, 2005
  5. Infantile refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Oren, MD, PhD Traub, 2005
  6. Refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Bryan, PhD Cobb, 2005
  7. Biochemical and dietary studies in Refsum's disease (Heredopathia atactica polyneuritiformis) by Kenneth Try, 1969
  8. Heredopathia Atactica Polyneuritiformis: A Familial Syndrome not hitherto described. A Contribution to the Clinical Study of the Hereditary Diseases of the Nervous System by Sigvald Refsum, 1946-01-01
  9. COLLABORATIVE STUDY OF EPIDEMIOLOGICAL FACTORS IN CEREBROVASCULAR DISEASE : CODING GUIDE by Ludo (van), with A.B. Baker, G. Mottura, C. Poser, S. Refsum and E. Rutishauser Bogaert, 1959
  10. Gale Encyclopedia of Medicine: Lipidoses by Altha Roberts Edgren, 2002-01-01
  11. Lipidoses: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Altha Edgren, 2006
  12. Homocysteine Metabolism: From Basic Science to Clinical Medicine
  13. Peripheral Neuropathies: International Conference Proceedings (International congress series)
  14. Myocardial Ischemia and Protection

1. Svenska RP-föreningen: Refsums Sjukdom
that needs to be followed. refsums disease Two articles about this disease, clinical description, inheritance,
http://www.srpf.a.se/forsk/refsum.html
Svenska RP-föreningen
1. A clinical description of Refsum Syndrome.
    by Tom Hoglund, Science Information Manager,
    Foundation Fighting Blindness

    publiced RPLIST Fri, 15 Jan 1999.
INFORMATION ABOUT REFSUM DISEASE Refsum disease is an extremely rare and complex disorder that affects many parts of the body. A form of the retinal degenerative disease known as retinitis pigmentosa (RP) is a common feature of this disease. CLINICAL DESCRIPTION
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.

2. Omniseek: /Health /Conditions And Diseases /Neurological Diseases /Krabbe Diseas
UNITED LEUKODYSTROPHY FOUNDATION. refsums disease $2.00 _LEU17 Information on Peroxisomal Diseases Psychiatric
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Health /Conditions and Diseases /Neurological Diseases /Krabbe Disease / Hunter's Hope
Was formed in September 1997, after their infant son, Hunter, was diagnosed with Krabbe disease (Globoid-Cell Leukodystrophy). To date they have raised over two million dollars to further research on Krabbes and other Leukodystrophies.
(http://members.aol.com/hunterhope/main.html) Krabbe-Disease.com A site that shares information about Globoid Cell Leukodystrophy or Krabbe Disease. Information was obtained from several sources parents of children with Krabbe, physicians, researchers, medical texts and medical websites. (http://www.krabbe-disease.com/) Krabbe's Family Network The area most affected by this is the central nervous system. The CNS controls such things as Breathing, body temperature, and all other automatic body functions are controlled by the CNS. There are two types of Krabbe's. Most common is the infantile fo (http://www.krabbes.net)

3. Infantile Refsum's Disease
images in the dentate nuclei. See refsums disease. HC The Encyclopaediaof Medical Imaging Volume VII. Disclaimer Legal Contact us
http://www.amershamhealth.com/medcyclopaedia/Volume VII/INFANTILE REFSUMS DISEAS
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*For Medical Professionals only, registration required 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
HC
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4. Refsum's Disease
one click … For Medical Professionals only. Refsum's disease,, Printthis article, (Sigvald Refsum, born 1907, Norwegian neurologist
http://www.amershamhealth.com/medcyclopaedia/Volume VII/REFSUMS DISEASE.asp
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*For Medical Professionals only, registration required 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.
HC
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Welcome to Medcyclopaedia.
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5. 1300 (known) Metabolic Diseases
Pyruvate ICinase ~eficiency. refsums disease (Infantile). Rhizomelic Chondropdysplasia Punctata
http://www.soundwithvision.com/Home/Projects/Kleine_Kus/1300dis/1300dis.html
1300 (known) Metabolic Diseases (from Research Trust for Metabolic Diseases in Children) The list... Abetalipopprotinaemia
Achondroplasia
Adenosine Deaminase Deficiency
Adrenal Hyperplasia
Adrenal Hypoplasia
Aicardi-Goutieres Syndrome
Alagille Syndrome
Alcaptonuria
Alpers Disease
Alpha One Antitrypsin Deficiency
5 Alpha Reductase Deficiency Alports Syndrome Alstroni s Disease Amyloidosis Androgen Insensitivity Arachidonic Acid, Absence of: Arginase Deficiency Arginosuccinic Aciduria (ASA) Aromatic amino acid decarboxylase deficiency Arterial Calcification of Infancy Occlusive Infantile Arteriopathy Arylsulphatase A Deficiency Aspartyl Glucosaminuria Ataxia Telangiectasia Bartters Syndrome Batten's Disease Berardinelli Lipodystrophy Syndrome Beta Ketothiolase Deficiency 2 Methylacetoacetyl CoA Thiolase Deficiency Beta-Methylcrotonylglycinuria Biliary Hypoplasia Biotin Deficiency CI Esterase Deficiency Carbamyl Phosphate Synthetase Deficiency (CPS) Carbohydrate Deficient Glycoprotein Syndrome Carnitine Deficiency Carnitine Palmitoyltransferase Deficiency Cerebrotendinous Xanthomatosis Chondrodysplasia Punctata Citrullinaemia Cobalamin C/G Deficiency Cockayne Syndrome Crigler Najjar Syndrome type I Cystinosis Cystinuria Cytochrome C Oxidase Deficiency Diabetes Insipidus Dysmyelination Endocardial Fibroelastosis Ethylmalonic Aciduria Ethylmalonic Adipic Aciduria Farbers Disease Fabry's Disease Fanconi's Syndrome Fish Odour Syndrome (Trimethylamineuria)

6. THE LIGHTNING HYPERTEXT OF DISEASE.
Motor and Sensory Type IV Refsum's Disease Refsum's Syndrome Polyneuritiformis, HeredopathiaAtactica Refsum Syndrome refsums disease Refsums Syndrome Syndrome
http://www.pathinfo.com/cgi-bin/lh.cgi?tx=heredopathia

7. Web Wombat World Directory
treatment and research being done. refsums disease Two articles about this disease, clinical description, inheritance,
http://www.webwombat.com.au/wwdir/WW434084.HTM
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  • Refsum Disease - A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed.
  • Refsum's Diet - Very in depth discussion about the foods and diet of some one whom has refsum's disease.
  • Refsum Disease - Information sheet on this disease as to what it is, the symptoms, treatment and research being done.
  • Refsum Disease - The clinical and biochemical presentation of this disease, the causes and treatment are discussed.
  • Refsums Disease - Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes.

8. THE LIGHTNING HYPERTEXT OF DISEASE.
Disease Refsum's Disease, Infantile Adrenoleukodystrophies, Neonatal HyperpipecolicAcidemias Infantile refsums disease Neonatal Adrenoleukodystrophies
http://www.pathinfo.com/cgi-bin/lh.cgi?tx=acidemia

9. Infantile Refsum's Disease
there is osteopenia with increased signal on T2weighted images in the dentate nuclei. See refsums disease
http://www.amersham-health.com/medcyclopaedia/Volume%20VII/INFANTILE%20REFSUMS%2
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*For Medical Professionals only, registration required 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
HC
The Encyclopaedia of Medical Imaging Volume VII
Welcome to Medcyclopaedia.
This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile.
Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

10. ClinicalTrials.gov - Linking Patients To Medical Research Search
Individual Terms, Count. NINDS Infantile Refsum Disease Information Page ,None. Infantile Refsum Disease Also searched infantile refsums disease,2.
http://www.clinicaltrials.gov/search/term=NINDS Infantile Refsum Disease Informa

11. Directory Vaionline: Siti_Mondiali/Health/Conditions_and_Diseases/Nutrition_and_
whom has refsum's disease. refsums disease Two articles about this disease, clinical description, inheritance,
http://directory.vaionline.it/Siti_Mondiali/Health/Conditions_and_Diseases/Nutri
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  • Refsum Disease - The clinical and biochemical presentation of this disease, the causes and treatment are discussed.
  • Refsum Disease - Information sheet on this disease as to what it is, the symptoms, treatment and research being done.
  • Refsum Disease - A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed.
  • Refsum's Diet - Very in depth discussion about the foods and diet of some one whom has refsum's disease.
  • Refsums Disease - Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes.

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12. ClinicalTrials.gov - Linking Patients To Medical Research Search
NINDS Refsum Disease Information Page , None. Refsum Disease Also searchedhmsn type iv refsum syndrome refsums disease refsum thiebaut disease refsum
http://www.clinicaltrials.gov/search/term=NINDS Refsum Disease Information Page

13. 1Up Health > Health Links Directory > Conditions And Diseases: Nutrition And Met
that needs to be followed. refsums disease. Two articles about this disease, clinical description, inheritance,
http://www.1uphealth.com/links/cholesterol-and-other-fats-refsums.html
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Health: Conditions and Diseases: Rare Disorders
Sites Refsum Disease Information sheet on this disease as to what it is, the symptoms, treatment and research being done. Refsum Disease The clinical and biochemical presentation of this disease, the causes and treatment are discussed. Refsum Disease A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. Refsums Disease Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. Refsum's Diet Very in depth discussion about the foods and diet of some one whom has refsum's disease.

14. RBC Rabeprazole Rabies Immunisation Travel Immunoglobulin Vaccine
ReFacto; Reflexions; Refludan; Reflux oesophagitis see Gastrooesophagealreflux disease. Refolinon; refsums disease, ACBS; Regaine; Regal;
http://bnf.vhn.net/bnf/index/index_r.html
  • R.B.C. Rabeprazole Rabies
      immunisation
        travel
      immunoglobulin vaccine
    Rabipur Radian-B preparations Ralgex preparations Raloxifene Raltitrexed
      infusion table
    Ramipril
      see also ACE inhibitors
    Ranitic Ranitidine
      infusion table
    Ranitidine bismuth citrate Ranitidine bismutrex Rantec Ranzac Rap-eze Rapamune Rapifen Rapilysin Rapitil Rappell Rasburicase
      infusion table
    Rashes, urticarial Rauwolfia alkaloids Raynauds syndrome Razoxane Rebetol Rebif Reboxetine Recently prepared Recombinate Red eye Red line webbing Redoxon Reductil ReFacto Reflexions Refludan Reflux oesophagitis Refolinon Refsums disease, ACBS Regaine Regal Regranex Regulan Regulose Regurin Rehidrat Rehydration
      oral parenteral
    Relaxit Relaxyl Relcofen Release Relenza Relifex Relpax Remedeine Remegel preparations Remicade Remifentanil
      infusion table
    Reminyl Remnos Renagel Renal colic Renal excretion, interactions affecting Renal impairment
      ACBS prescribing in
    Renamil Renapro Rennie preparations ReoPro Repaglinide Replenate Replenine-VF Replens Replicare Requip RescueFlow Resolve Resonium A Resorcinol Resource preparations Respiratory depression
      poisoning postoperative
    Respiratory distress syndrome Respiratory failure Respiratory stimulants Respiratory syncytial virus infections Respontin Restandol Resuscitation, cardiopulmonary

15. Lipidosis
Fabrys disease (glycolipidosis). refsums disease (phytanic acid storage disease)
http://www.amersham-health.com/medcyclopaedia/Volume%20III%201/LIPIDOSIS.html
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*For Medical Professionals only, registration required Lipidosis, a group of disorders characterized by abnormal accumulation of lipids within reticuloendothelial cells (Table 1). Lipiodosis, Table 1. Lipid storage disease Gauchers disease (glycosylceramide lipiodosis) Niemann Pick disease (sphingomyelin lipidosis) Fabrys disease (glycolipidosis) Refsums disease (phytanic acid storage disease) Krabbes disease (galactosylceramide lipidosis) Metachromatic leukodystrophy (sulphatide lipidosis) Farber's lipogranulomatosis (ceramidase deficiency) Gangliosidosis Sea-blue histiocytosis Tay Sachs disease Fucosidosis The disorders are discussed more fully under their specific names.
DR
The Encyclopaedia of Medical Imaging Volume III:1
Welcome to Medcyclopaedia.

16. 1300 (known) Metabolic Diseases
Pyruvate Dehydrogenase Complex I'yruvate Dehydrongenase Deficiency Pyruvate ICinase~eficiency refsums disease (Infantile) Rhizomelic Chondropdysplasia
http://soundwithvision.com/Home/Projects/Kleine_Kus/1300dis/1300dis.html
1300 (known) Metabolic Diseases (from Research Trust for Metabolic Diseases in Children) The list... Abetalipopprotinaemia
Achondroplasia
Adenosine Deaminase Deficiency
Adrenal Hyperplasia
Adrenal Hypoplasia
Aicardi-Goutieres Syndrome
Alagille Syndrome
Alcaptonuria
Alpers Disease
Alpha One Antitrypsin Deficiency
5 Alpha Reductase Deficiency Alports Syndrome Alstroni s Disease Amyloidosis Androgen Insensitivity Arachidonic Acid, Absence of: Arginase Deficiency Arginosuccinic Aciduria (ASA) Aromatic amino acid decarboxylase deficiency Arterial Calcification of Infancy Occlusive Infantile Arteriopathy Arylsulphatase A Deficiency Aspartyl Glucosaminuria Ataxia Telangiectasia Bartters Syndrome Batten's Disease Berardinelli Lipodystrophy Syndrome Beta Ketothiolase Deficiency 2 Methylacetoacetyl CoA Thiolase Deficiency Beta-Methylcrotonylglycinuria Biliary Hypoplasia Biotin Deficiency CI Esterase Deficiency Carbamyl Phosphate Synthetase Deficiency (CPS) Carbohydrate Deficient Glycoprotein Syndrome Carnitine Deficiency Carnitine Palmitoyltransferase Deficiency Cerebrotendinous Xanthomatosis Chondrodysplasia Punctata Citrullinaemia Cobalamin C/G Deficiency Cockayne Syndrome Crigler Najjar Syndrome type I Cystinosis Cystinuria Cytochrome C Oxidase Deficiency Diabetes Insipidus Dysmyelination Endocardial Fibroelastosis Ethylmalonic Aciduria Ethylmalonic Adipic Aciduria Farbers Disease Fabry's Disease Fanconi's Syndrome Fish Odour Syndrome (Trimethylamineuria)

17. Listings Of The World Health Conditions And Diseases Nutrition
refsums disease Post Review Two articles about this disease, clinical description,inheritance, treatment and related diseases and syndromes.
http://listingsworld.com/Health/Conditions_and_Diseases/Nutrition_and_Metabolism

18. Refsum's : Meddie Health Search
(Rating 0.00 Votes 0) Rate It. refsums disease Two articles about this disease,clinical description, inheritance, treatment and related diseases and syndromes
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    A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed.
    (Rating: 0.00 Votes: 0) Rate It
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    Very in depth discussion about the foods and diet of some one whom has refsum's disease.
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19. Directory :: Look.com
refsums disease Two articles about this disease, clinical description,inheritance, treatment and related diseases and syndromes.
http://www.look.com/searchroute/directorysearch.asp?p=434084

20. P L A Y B A C K
1 hrs 30 mins. HE37(1) Health refsums disease RP Leaflet 1 hrs 30mins. HE38(1) Health Fit for Life 1 hrs 30 mins. HE39(1) Health
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Health HE1(1) Health Take Care of Yourself - Keeping Fit in Retirement 1 hrs 30 mins HE3(1) KENDAL, Felicity Shape up And Dance 1 hrs 30 mins HE4(3) MITCHELL, Laura Simple Relaxation 4 hrs 30 mins HE5(3) BROOK, Dr. Oliver The Bouncy Baby Book 4 hrs 30 mins HE6(1) Health First Aid Manual (1972) 4 hrs 30 mins HE7(1) Health The Birth of a Baby 1 hrs 30 mins HE8(1) Health Understanding Diabetes - You and Your Health 1 hrs 30 mins
By Dr. Arnold Bloom and Helen Desmond Dieticians. With assistance from Diabetic patients and their relatives. HE9(1) MARSHALL, G. H. Retinitis Pigmentosa 1 hrs 30 mins HE10(2) Health ABC of Ophthalmology - Articles from the British Medical Journal 3 hrs HE11(1) Health U 100 Insulin Leaflets 1 hrs 30 mins HE12(1) RUBINSTEIN, Helena Skin Care and Make-Up 1 hrs 30 mins HE13(1) Scottish Adult Basic Education Unit Depression 1 hrs 30 mins HE14(1) Scottish Adult Basic Education Unit Death and Dying 1 hrs 30 mins HE15(1) Scottish Adult Basic Education Unit Bereavement and Widowhood 1 hrs 30 mins HE16(1) Health Care of Teeth and Gums 1 hrs 30 mins HE17(1) Health The Business of Living with Retinitis Pigmentosa 1 hrs 30 mins HE18(1) Health Cosmopolitan Keep Fit 1 hrs 30 mins HE19(1) Health Ushers Syndrome Leaflet 1 hrs 30 mins HE20(6) Health No Change - The Menopause 9 hrs HE21(7) Health Heatherset Package 10 hrs 30 mins HE22(13) Health SWARB: Let's Talk 19 hrs 30 mins HE23(2) Health Dust At Work - TUC 3 hrs HE24(1) Health You Are What You Eat 1 hrs 30 mins

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