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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

41. CELL STRUCTURE  Cells Come In Different Sizes
Abnormal peroxisomes can cause disease. Infantile refsums disease accumulationof very long chain fatty acids due to too few peroxisomes in liver and skin
http://natsci.edgewood.edu/Zoology 101/cell_structure.htm
CELL STRUCTURE
Cells come in different sizes - size varies based on function
There is a limit to how large a cell can be large cells have much less surface area relative to their volume than small cells of the same shape cells need adequate surface area to obtain nutrients and dispose of waste Prokaryotic Cells are Small and Have Simple Structure
Shown below is a diagram of a prokaryotic cell, give a brief description of the function of each labeled component.
For more really cool cell pictures, click on www.cellsalive.com
Eukaryotic cells have compartments called organelles Why organelles? specific conditions can be maintained for chemical activities of cell increase surface area Eukaryotic cells are bound by the plasma membrane
- phospholipids
- proteins
- cholesterol Ribosomes
- site of protein synthesis
- two subunits composed of protein and RNA - located in cytosol and on endoplasmic reticulum Nucleus - genetic control center - contains chromatin (genetic material) - enclosed by double membrane called nuclear envelope - nuclear pores allow molecules in and out of nucleus - contains nucleolus - site of ribosome synthesis The endoplasmic reticulum, Golgi apparatus, lysosomes and vacuoles are connected through the endomembrane system

42. Abortion Abortion (spontaneous) Abortion Habitual Abortion
disease refsum s syndrome refsumthiebaut disease refsum-thiebaut syndromerefsum-thiebaut syndromes refsums disease refsums syndrome region trauma
http://www.sims.berkeley.edu/~rosario/is290/tables/Sensitive_Diseases_names_from
renal failure chronic uremia renal failure following crushing injury renal failure secondary to liver disease renal failure secondary to liver disease hepatorenal syndrome renal failure syndrome renal failures renal glucosuria renal glycosuria renal hyperchloremic acidosis renal hypertension renal hypertensions renal insufficiencies renal insufficiency renal insufficiency acute renal insufficiency chronic renal insufficiency syndrome renal medullary necrosis renal neoplasia renal neoplasm renal neoplasms renal oculocerebrodystrophy renal osteodystrophies renal osteodystrophy renal papillary necrosis renal papillitides renal papillitis renal papillitis necrotising renal papillitis necrotizing renal rickets renal sclerosis renal shutdown acute renal stone renal stones renal syndrome renal thrombotic thrombocytopenic purpura < gangliosidosis type 1 hereditary sensory autonomic neuropathy type 1 mea type 1 men type 1 multiple endocrine adenomatosis type 1 multiple endocrine neoplasia type 1 neurofibromatosis type 1 osteoporosis type 1 spinocerebellar ataxia type 1s type 2 type 2 [acoustic neurofibromatosis] neurofibromatosis type 2 autosomal dominant disease polycystic kidney type 2 diabetes mellitus type 2 duane retraction syndrome type 2 gangliosidosis gm1 type 2 gaucher disease type 2 gm2 gangliosidosis type 2 gm>2 < deficiency anaemia vitamin b>12

43. BRINT Research Directories
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Health Conditions and Diseases ... Cholesterol and Other Fats
Related Topics Related Categories: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases Health: Conditions and Diseases: Rare Disorders Web Pages Refsum Disease - http://www.peroxisome.org/Scientist/Biochemistry/disorders/refsumtext.html The clinical and biochemical presentation of this disease, the causes and treatment are discussed. Refsum Disease - http://www.ninds.nih.gov/health_and_medical/disorders/refsum_doc.htm

44. Refsums Disease, Infantile : On Medical Dictionary Online
refsums disease, Infantile defined on the Free Online Medical Dictionary. Medicalterminology refsums disease, Infantile. A heterogeneous
http://www.online-medical-dictionary.org/Refsums Disease, Infantile.asp?q=Refsum

45. Refsums Disease : On Medical Dictionary Online
refsums disease defined on the Free Online Medical Dictionary. Medicalterminology definitions refsums disease. An autosomal recessive
http://www.online-medical-dictionary.org/Refsums Disease.asp?q=Refsums Disease

46. Health Conditions And Diseases Nutrition And Metabolism Disorders Cholesterol An
refsums disease Open in a new browser window Two articles about this disease, clinicaldescription, inheritance, treatment and related diseases and syndromes.
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Topics of Interest Related::
  • Top/Health/Conditions and Diseases/Genetic Disorders Top/Health/Conditions and Diseases/Neurological Disorders/Muscle Diseases Top/Health/Conditions and Diseases/Rare Disorders
  • Results Refsum Disease Information sheet on this disease as to what it is, the symptoms, treatment and research being done.

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    Search: search the entire directory search this category only Top Health Refsum's See also: Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Lose ... Open Directory and may have been modified by DWodp Powered by DWodp live Home Partners

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    49. RAG - RES
    refsums disease. http//www.e88.com/health_conditions. Refsum s Disease.http//directory.ansme.com/health/168.html. Refsum s Disease (5)
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    50. Health Conditions And Diseases Nutrition And Metabolism Disorders Cholesterol An
    refsums disease Two articles about this disease, clinical description,inheritance, treatment and related diseases and syndromes.
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    Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Refsum's
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    51. South Australian Orthopaedic Registrars' Notebook
    consists of refsums disease rare. clinically present in childhood - pubertycharacterised by remissions and relapses
    http://som.flinders.edu.au/FUSA/ORTHOWEB/notebook/disease/neuromuscular.html
    Neuromuscular disorders
    Introduction
    Grades of Muscle power: (Medical Research Council)
  • Total paralysis
  • Barely detectable contracture
  • Not enough power to act against gravity
  • Strong enough to act against gravity
  • Still stronger with activity against resistance (not normal)
  • Full power
    Recommeded Ammendment (1970's)
    4 / + Good resistance but not normal
    4 / Resistance moderate
    4 / - Resistance weak and easilly overcome
    Spinal pathways
    Cord
    From base of skull to L1/2 interspace in the adult. From base of skull to S2 in the foetus Nerve Roots Not a spinal nerve inside the theca Rootlets form in the sub arachnoid space form the anterior and posterior horns which independently piece the dura and unite to form the mixed spinal nerve The ganglion on the posterior root lies in the inter-vertebral foramen just proximal to the formation of the mixed nerve The posterior root ganglion of the cervical nerves lie lateral to the inter-vertebral foramen in contact with the vertebral artery Blood Supply Segmental from the vertebral artery in the cervical spine, the intercostal and lumbar arteries in the thoracic spine
  • 52. Health
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    53. Tiscali - Search
    5.refsums disease Two articles about this disease, clinical description,inheritance, treatment and related diseases and syndromes.
    http://directory.tiscali.it/Health/Conditions_and_Diseases/Nutrition_and_Metabol
    document.domain = 'tiscali.it'; Home Search Health Refsum's Siti selezionati dalla categoria Refsum's
    Refsum Disease A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. 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'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. Vedi anche: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases Health: Conditions and Diseases: Rare Disorders Link sponsorizzati INTERNET WITH A PASSION. Contattaci moveBanner(728,90,'T','WEB.2L',''); moveBanner(120,180,'T','WEB.2L','');

    54. Evisum.com The Educational Vortal
    Refsum s Disease. refsums disease Two articles about this disease, clinicaldescription, inheritance, treatment and related diseases and syndromes.
    http://search.evisum.com/dir.cgi?dir=46378

    55. Outer References Missing Links? Journal List All-Author List
    LOCALIZATION OF ENZYMATIC DEFECT IN PHYTANIC ACID STORAGE DISEASE (refsums disease),4, 0. 15, 0, 15 1974 CIRCULATION 50(4)4848
    http://www.garfield.library.upenn.edu/histcomp/steinberg-d_src/
    Outer References Missing Links? Journal list All-Author list ... Graphs Wed Dec 10 16:57:51 2003 Papers by Daniel Steinberg
    of University of California, San Diego Nodes: 353
    Sorted by year, journal, volume, page
    Page
    Cited
    nodes Nodes Authors GCS LCS BIOLOGICAL BULLETIN 99(2):322-323
    VILLEE CA; LINDERSTROM K; OTTESEN M; ANFINSEN CB; STEINBERG D
    THE ENZYMATIC CONVERSION OF OVALBUMIN TO PLAKALBUMIN FEDERATION PROCEEDINGS 10(1):156-157
    ANFINSEN CB; STEINBERG D
    EVIDENCE FOR STEPWISE BIOSYNTHESIS OF OVALBUMIN JOURNAL OF BIOLOGICAL CHEMISTRY 189(2):739-744
    ANFINSEN CB; STEINBERG D STUDIES ON THE BIOSYNTHESIS OF OVALBUMIN FEDERATION PROCEEDINGS 11(1):292-292 STEINBERG D; ANFINSEN CB EVIDENCE FOR INTERMEDIATE COMPOUNDS IN THE BIOSYNTHESIS OF OVALBUMIN JOURNAL OF BIOLOGICAL CHEMISTRY 199(1):25-42 STEINBERG D; ANFINSEN CB EVIDENCE FOR INTERMEDIATES IN OVALBUMIN SYNTHESIS SCIENCE 124(3218):389-395 STEINBERG D; VAUGHAN M; ANFINSEN CB KINETIC ASPECTS OF ASSEMBLY AND DEGRADATION OF PROTEINS SCIENCE 126(3271):447-448 STEINBERG D; VAUGHAN M; ANFINSEN CB; GORRY J PREPARATION OF TRITIATED PROTEINS BY THE WILZBACH METHOD CIRCULATION 48(4):113-113 BENSADOU.A; EHNHOLM C; STEINBERG D; BROWN WV

    56. Outer References Missing Links? Journal List All-Author List
    LOCALIZATION OF ENZYMATIC DEFECT IN PHYTANIC ACID STORAGE DISEASE (refsums disease),4, 0. 183, 0, 16 1974 CIRCULATION 50(4)7070 WEINSTEIN DB; CAREW TE;
    http://www.garfield.library.upenn.edu/histcomp/steinberg-d_src/index-lcs.html
    Outer References Missing Links? Journal list All-Author list ... Graphs Wed Dec 10 16:57:55 2003 Papers by Daniel Steinberg
    of University of California, San Diego Nodes: 353
    Sorted by LCS
    Page
    Cited
    nodes Nodes Authors GCS LCS PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES 78(10):6499-6503
    HENRIKSEN T; MAHONEY EM; STEINBERG D
    ENHANCED MACROPHAGE DEGRADATION OF LOW-DENSITY LIPOPROTEIN PREVIOUSLY INCUBATED WITH CULTURED ENDOTHELIAL-CELLS - RECOGNITION BY RECEPTORS FOR ACETYLATED LOW-DENSITY LIPOPROTEINS PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES 81(12):3883-3887
    STEINBRECHER UP; PARTHASARATHY S; LEAKE DS; WITZTUM JL; STEINBERG D
    MODIFICATION OF LOW-DENSITY LIPOPROTEIN BY ENDOTHELIAL-CELLS INVOLVES LIPID-PEROXIDATION AND DEGRADATION OF LOW-DENSITY LIPOPROTEIN PHOSPHOLIPIDS NEW ENGLAND JOURNAL OF MEDICINE 320(14):915-924
    STEINBERG D; PARTHASARATHY S; CAREW TE; KHOO JC; WITZTUM JL BEYOND CHOLESTEROL - MODIFICATIONS OF LOW-DENSITY LIPOPROTEIN THAT INCREASE ITS ATHEROGENICITY PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 84(21):7725-7729 CAREW TE; SCHWENKE DC; STEINBERG D

    57. HFhealth - Tests Encyclopaedia
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    60. Untitled Document
    process of approaching companies and organisations seeking sponsorship for BrittanyParrott, a seven year old girl who suffers from Infantile refsums disease.
    http://www.thekingsschool.co.za/newsletters/september/newsletter07_8.htm
    Sponsership Request Brittany Brittany is still on nappies and requires a large amount of these. her medical costs are high, as she needs to go onto an antibiotic regularly, especially for chest infections, tonsillitis, bronchitis etc. Brittany requires surgery on her feet as the tendons are shortening since she cannot walk. This will result in long term damage and problems should she end up in a wheelchair. Brittany sees a doctor in Barcelona, Spain once a year and so flights, accommodation etc. have to be paid for once a year. Any assistance whatsoever (gift hampers, services offered, cash donations, car hire, airline tickets, medicine, accommodation (in Spain), or consumables such as foodstuffs, nappies etc.) will be appreciated. Any additional information on Brittany or her needs can be obtained from her mother Hazel (a parent in our school) on 072-1451019, or email corpcafe@wol.co.za Support the shops that support our school. Every rand you spend raises funds for our school. Here are a few comments from those who are noted as consistently using and supporting our King's School with the use of their school Smart Card. This is to encourage all of us to make use of this wonderful easy way of raising funds for our school.

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