21. Gene-DIsease Set For Chromosome 3 absent in patients suffering with peroxisomal disorders such as zellweger syndrome,neonatal adrenoleukodystrophy and infantile refsums disease, EHHADH, http://www.ebi.ac.uk/proteome/HUMAN/chromosomes/disease_set/3.html

Gene-Disease set for chromosome , according to SPTr. [Alternative view: Complete gene set Gene GDB GeneCards Location MIM Acc Nr Description Disease PubMed Ensembl InterPro CluSTr STRING 3-ketoacyl-CoA thiolase, peroxisomal precursor (EC 2.3.1.16) (Beta- ketothiolase) (Acetyl-CoA acyltransferase) (Peroxisomal 3-oxoacyl- CoA thiolase). defects in acaa1 are the cause of pseudo-zellweger syndrome Acyl-coenzyme A oxidase 2, peroxisomal (EC 1.3.3.6) (Branched-chain acyl-CoA oxidase) (BRCACox) (Trihydroxycoprostanoyl-CoA oxidase) (THCCox) (THCA-CoA oxidase). absent in patients suffering from zellweger syndrome Activin receptor type IIB precursor (EC 2.7.1.37) (ACTR-IIB). defects in acvr2b are a cause of left-right axis malformations [mim:602730]; due to the loss of normal left-right asymmetry. complete left-right asymmetry reversal imparts no deleterious consequences to the affected individual, whereas randomization typically results in complex, often lethal heart malformations as well as abdominal abnormalities SH3 adapter protein SPIN90 (SH3 protein interacting with Nck, 90 kDa) (VacA-interacting protein, 54 kDa) (VIP54) (AF3p21) (Diaphanous protein interacting protein) (Dia interacting protein-1) (DIP-1).

22. UNITED LEUKODYSTROPHY FOUNDATION _LEU15 Information on PelizaeusMerzbacher Disease-$2.00. _LEU16 Informationon refsums disease-$2.00. _LEU17 Information on Peroxisomal Diseases-$3.00. http://www.ulf.org/ulf/ulfres/

U NITED L EUKODYSTROPHY F OUNDATION 2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432 Resources available at the ULF The ULF maintains a collection of reprints, booklets, and videotapes available on a variety of topics as listed below. Videotapes are sessions from past ULF National Conferences and may be either purchased or rented by our members, or purchased by the general public. Literature is limited to one of each item. Please email us and request an order form which contains a complete listing of the literature available. Send the completed form to the above address along with your payment and your address information. Please allow 2 weeks for delivery. Payment accepted by money order, check, Master Card or Visa. Literature Bone Marrow Transplant Information Education Equipment ... Videotape Titles and Descriptions Literature Bone Marrow Transplant Information _BMT01 Bone Marrow Donor Information-$1.00 _BMT02 Patient Care/Complications-$1.00 _BMT03 Adrenoleukodystrophy-$2.00 _BMT04 Krabbes Disease-$2.00

23. CELL STRUCTURE  Cells Come In Different Sizes Infantile refsums disease accumulation of very long chain fatty acids due totoo few peroxisomes in liver and skin cells; leads to mental retardation 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

24. Entry Page DISEASE ABSENT IN PATIENTS SUFFERING WITH PEROXISOMAL DISORDERS CC SUCH AS ZELLWEGERSYNDROME, NEONATAL ADRENOLEUKODYSTROPHY AND CC INFANTILE refsums disease. http://srs.wehi.edu.au/srs6bin/cgi-bin/wgetz?-id 4lonR1KZaeL [swissprot-ID:ECHP_

25. Healthlink Template Systems','Personal Identification Systems','Recovery Rooms','Rectal Neoplasms','RectumNeoplasms','Rectums','refsums disease','Refsums Syndrome','Regional http://healthlink.mcw.edu/search/text-search-fulllist.php?MS

26. Shipping Adrenoleukodystrophy, refsums disease Test, Place completed Requisition Form ontop of sample container. Ship via Athena Diagnostics’s overnight service. http://www.athenadiagnostics.com/site/content/resources/shipping.asp

Shipping Guidelines for Shipping to Athena Shipping Kits Unacceptable Specimens Incomplete Requisition Forms Instructions for Shipping ... Additional Questions Shipping Kits Order Shipping Kits Athena Diagnostics provides all shipping materials and pays shipping charges for specimens sent to us. Our shipping containers include: A prepaid airbill Sample container Shipping container Profile selection guide (if applicable) Dry ice label (if applicable) A Test Requisition form A patient reimbursement brochure Unacceptable Specimens unacceptable by Athena Diagnostics under the following circumstances: The blood/muscle sample arrives hemolyzed, or thawed, if a frozen sample is required The shipping box is damaged and the sample has been spilled or destroyed The blood/muscle sample is less than the minimum required volume/amount The blood/muscle sample is unlabeled Incomplete Requisition Forms An incomplete Requisition Form will result in delay of testing and result reporting. Please enclose a completed Requisition Form with the submission of specimen(s). Instructions for Shipping Complete the Requisition Form Verify that the appropriate specimen requirements have been met (sample type, volume, collection tube type).

27. Rebecca's Story Rebecca, is 5 1/2 years old, she will be 6 in August. She is labeled with Infantilerefsums disease. This very rare syndrome is typically deaf/blind. http://www.geocities.com/Heartland/Meadows/5939/RebeccaWeaver.HTML

Click the color button to change background color. Rebecca's Story Rebecca, is 5 1/2 years old, she will be 6 in August. She is labeled with Infantile Refsums Disease. This very rare syndrome is typically deaf/blind. She is diagnosed with RP and moderate hearing loss in both ears. She wears hearing aids in both ears and tests at conversational level. She attends the WPSBC (Western Pennsylvania School for Blind Children) in Pittsburgh, she is enrolled in Kindergarten. They are working mildly on sign language, but her vocal abilities have greatly improved over this last year. She has about 30 + words in her list, which is a major improvement since I first joined the listserv a year ago. She has recently been diagnosed with seizures, so she is now wearing a safety helmet (bright pink). She is very mobile, runs as well as walks everywhere. She especially like the outdoors. She's happy just to be out on the porch in the rain, as long as she is out. She refuses to wear gloves, so the snow weather/play is non-existant. As soon as her hands hit the snow, she is ready to come in. She has a younger sister who she terrorizes. We have behavior problems with her, so after alot of searching (about 3 years) I have finally found EPSDT services that start this coming week. This will be very interesting, and helpful. Written in March 1998 by Jean Weaver

28. Www.brps.demon.co.uk/Text/BRPS_9712.txt In some very rare cases, environmental factors can cause retinal problems, aswith refsums disease which, when identified, can be controlled by diet, as http://www.brps.demon.co.uk/Text/BRPS_9712.txt

29. Entry Page disease, absent in patients suffering with peroxisomal disorders such as zellwegersyndrome, neonatal adrenoleukodystrophy and infantile refsums disease. http://walnut.bioc.columbia.edu/srs6bin/cgi-bin/wgetz?-id 4looR1KZcot [swissprot

30. Medicalseek - Search Engine For The Healthcare Industry alphalink.com.au/~dijon/index3.htm; refsums disease Two articles about this disease,clinical description, inheritance, treatment and related diseases and http://www.medicalseek.net/Conditions_and_Diseases_Nutrition_and_Metabolism_Diso

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Cholesterol and Other Fats Refsum's Conditions and Diseases:Nutrition and Metabolism Disorders:Cholesterol and Other Fats:Refsum's Refsum Disease A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. alphalink.com.au/~dijon/index1.htm Refsum Disease The clinical and biochemical presentation of this disease, the causes and treatment are discussed. peroxisome.org/Scientist/Biochemistry/d... Refsum Disease Information sheet on this disease as to what it is, the symptoms, treatment and research being done. ninds.nih.gov/health_and_medical/disord... Refsum's Diet Very in depth discussion about the foods and diet of some one whom has refsum's disease. alphalink.com.au/~dijon/index3.htm Refsums Disease Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. srpf.a.se/forsk/refsum.html CATEGORIES ADD A LINK ADVERTISE CONTACT US ... FORUMS

31. 1st Edition 2002 any other parties. refsums disease EMAIL GROUP - Contact Di Harman- e-mail address Dijon@alphalink.com.au. Would you like to http://www.rpsa.org.za/news/1st_addition_2002.htm

RETINA ADVERT RECEIVES INTERNATIONAL RECOGNITION Grey Worldwide in South Africa developed an innovative Television Advert for Retina South Africa last year. The 30 second TV ad featured a typed script transforming into Braille. The Ad was aired on South African TV last year as part of World Retina Week. Grey Worldwide South Africa received a Bronze Clio for the ad, one of only 10 awards won by South African Advertising agencies. We congratulate the team at Grey and are proud to have them as our advertising agency. 5 BEAUTY QUEENS DAZZLE PORT ELIZABETH Congratulations to Gail Cillie and Sandra Kieck for organising this classy event. Pictured from left to right: Bernalee Daniel, Vanessa Correira, Gordon Cousins (National Chairman, Retina South Africa), Gail Cillie (Chairman Port Elizabeth), Sonia Raciti, Heather Hamilton and Penny Rey Coelen. LIBERTY RIDE FOR SIGHT 2002 This annual cycling event organised by the Gauteng branch of Retina South Africa was held on the 24th February 2002. This year around 5000 cyclists took part in the 58km and 112km events, raising R120 000 for our Gene Tracking Project. The main event was won by Ian McLeod in a time of 2:36:22. Retina South Africa would like to thank Liberty, Dischem and all the other sponsors for their support. We would also like to thank Springs Wheelers our cycling club, Alberton Amateur Radio, Red Cross, Aberdare Cables, our portfolio supervisors and over 300 volunteers for an excellent job. Douglas Ryder, captain of the South African Cycling Team commended the race as one of the best organised cycle events in the country.

32. Publications I. Pseudoinfantile refsums disease catalasedeficient peroxisomal particles withpartial deficiency of plasmalogen synthesis and oxidation of fatty acids. http://www.library.musc.edu/facpub/facpub.php?skippage=2&year=1993

33. Skin Care Campaign Newsletter3 and X Link, but also with the rarer forms such as Harlequin, Netherton’s, SjogrenLarsson syndrome, ConradiHunermann syndrome and refsums disease to mention http://www.skincarecampaign.org/newsl04.htm

34. Refsum Disease refsums disease http//www.srpf.a.se Two articles about this disease, clinicaldescription, inheritance, treatment and related diseases and syndromes. http://www.medlina.com/refsum_disease.htm

Academic Medicine Addiction Aging AIDS-HIV ... Women's Health The Web MEDLINA.com (partial) CDC WHO FDA NIH CATEGORIES Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: Home Up Refsum Disease Robinow Syndrome Rubinstein-Taybi Syndrome Russell-Silver Disease Refsum Disease Refsum Disease - http://www.ninds.nih.gov Information sheet on this disease as to what it is, the symptoms, treatment and research being done. Refsum Disease - http://www.alphalink.com.au A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. Refsums Disease - http://www.srpf.a.se Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. Refsum's Diet - http://www.alphalink.com.au Very in depth discussion about the foods and diet of some one whom has refsum's disease. Refsum Disease - http://www.peroxisome.org The clinical and biochemical presentation of this disease, the causes and treatment are discussed. SUBCATEGORIES Up powered by A merica M edica

35. Fatty Acid Metabolism 1 b2) step 2 pristanal pristanic acid b3) refsums disease alpha oxidation stepdoes not occur, phytanic acid accumulates causing neurological complications. http://umed.med.utah.edu/MS1/biochem/study/FA_metab.html

TAG Metabolism A) Overview 1) Fatty Acids (FA) are the principle source of energy for vertebrates. a) glycogen supplies glucose for 1 day b) protein can metabolized to glucose for 1 week. c) Tri acyl glycerol (TAG) can provide FA for energy for 3 months. 2) Adipose is the primary site of TAG storage 3) In response to glucagon or adrenaline, TAG is broken into glycerol and FA. a) FA provide energy for gluconeogenesis b) FA can be metabolized to ketone bodies in place of glucose c) glycerol is used as a substrate for the synthesis of glucose. B) TAG metabolism 1) Glucagon or adrenalin increases and binds to adipocytes and PK is activated a) Hormone Sensitive Lipase (HSL) is phosphorylated a1) phosphorylation activates HSL a2) HSL activation is the rate limiting step in TAG breakdown a3) phosphorylated HSL moves from cytosol to lipid droplet b) perilipins (membrane proteins enclosing TAG in lipid bodies) are phosphorylated b1) phosphorylation of perilipins disrupts the perilipin shell b2) TAG redistributes and becomes accesible to HSL 2) Activated HSL breaks down TAG a) glycerol is released to liver because it is not used by adipocytes directly (see 3 below) 3) FA are retained or released to blood stream based on cellular glucose status a) adipocytes require glucose for FA synthesis a1) Glycerol 3 phosphate (GlOH 3P) is a key intermediate for FA synthesis

36. World Wide Web Resources For Social Workers Commentary Changing the culture of out of hours care. Do you know anyone withrefsums disease? Does Britain need an academy of medicine? Editor's choice. http://www.nyu.edu/cgi-bin/cgiwrap/jep7/demomenu.cgi?cid=2616

37. Lipidosis lipidosis). Fabrys disease (glycolipidosis). refsums disease (phytanicacid storage disease). Krabbes disease (galactosylceramide lipidosis). http://eu.amershamhealth.com/medcyclopaedia/Volume III 1/LIPIDOSIS.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *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.

38. DINO - Language: Englisch - Health - Conditions And Diseases - Nutrition And Met 5. Dieser 'externe' Link öffnet sich in einem neuen Fenster refsums disease Twoarticles about this disease, clinical description, inheritance, treatment http://www.dino-online.de/dino_page_3f0b0665067facb260114b02332e8895.html

Suche Profi-Suche Katalog Video ... Produkte Suchen: Web-Seiten Video Audio Bilder Produkte Schon gewusst? Hier suchen Sie in 2 Milliarden Webseiten. Live-Suche: Was suchen andere Dino-Besucher? You are here: DINO Language Englisch Health ... Cholesterol and Other Fats Refsum's Refsum's Sprache/Language Related Categories DINO - Language: Englisch - Health - Conditions and Diseases - Genetic Disorders DINO - Language: Englisch - Health - Conditions and Diseases - Neurological Disorders - Muscle Diseases DINO - Language: Englisch - Health - Conditions and Diseases - Rare Disorders Websites Refsum Disease - The clinical and biochemical presentation of this disease, the causes and treatment are discussed. http://www.peroxisome.org/Scientist/Biochemistry/disorders/refsumtext.html [Verwandte Websites] Refsum Disease - Information sheet on this disease as to what it is, the symptoms, treatment and research being done. http://www.ninds.nih.gov/health_and_medical/disorders/refsum_doc.htm [Verwandte Websites] Refsum Disease - A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. http://www.alphalink.com.au/~dijon/index1.htm

39. South Australian Orthopaedic Registrars' Notebook autosomal recessive consists of refsums disease rare clinically present in childhood- puberty characterised by remissions and relapses assoc with - anosmia http://som.flinders.edu.au/FUSA/ORTHOWEB/notebook/disease/neuromuscular.html

Neuromuscular disorders Introduction Cerebal Palsy Stroke Freidreich's Ataxia ... Neurofibromatosis 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

40. Open Directory & Pay Per Click Search Engine: Health/Conditions And Diseases/Nut http//www.alphalink.com.au/~dijon/index3.htm. refsums disease Two articles aboutthis disease, clinical description, inheritance, treatment and related http://www.searchpixie.com/Health/Conditions_and_Diseases/Nutrition_and_Metaboli

Need Traffic TrafficGiveAway.com Search the Web Home Toolbar LinkManager bookmark ... Cholesterol and Other Fats : Refsum's LINKS: Refsum Disease The clinical and biochemical presentation of this disease, the causes and treatment are discussed. http://www.peroxisome.org/Scientist/Biochemistry/disorders/refsumtext.html Refsum Disease Information sheet on this disease as to what it is, the symptoms, treatment and research being done. http://www.ninds.nih.gov/health_and_medical/disorders/refsum_doc.htm Refsum Disease A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. http://www.alphalink.com.au/~dijon/index1.htm 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 Refsums Disease Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. http://www.srpf.a.se/forsk/refsum.html HOME ADD A LINK MODIFY A LINK LOGIN ... Affiliate Program

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