Geometry.Net - Health_Conditions: Fabrys Disease

Jane McKell
having interviewed many high profile and motivated people on radio) have helpedto raise funds for the Anderson fabrys disease Association, Breakthrough and
http://www.standrews.dorset.sch.uk/governors/jane.htm

Extractions: Jane McKell Jane McKell BA Hons. Humanities PGCE Drama/English PG Act. Dip (Equity/NUJ) (Married name Mrs J. H. Butcher) I greatly value the opportunity to be part of a team helping St Andrews C of E School, Preston to achieve: learning, growing and meeting new challenges at the start of a new Millennium. My nine-year-old son, Joseph has been at St Andrews Church of England Primary School for two years and is currently in Y5 with Mr Standing as his teacher. t heatr e scape. I am involved in school and community drama workshop projects with both companies. In the summer of 2000 I was employed as artistic director of a newly commissioned rock musical project involving disadvantaged youth in this county which premiered at the Glastonbury Festival in June before touring. A teaching pack including CD and video is to be published and sold to schools nationally to raise funds for homeless youth. The education, personal development and well being of young people remain a passion. I have instigated and been involved with fund-raising projects for The Trimar Hospice and with the help of contacts (having interviewed many high profile and motivated people on radio) have helped to raise funds for the Anderson Fabrys Disease Association, Breakthrough and the Motor Neurone Disease Association). St Andrew's Church has been important to my life. Confirmed, choirgirl and Girl Guide there, Kevin and I returned to be married and chose later to have our son christened there.
Www.med.umich.edu/kidney/usrds/adrtab/sectionl.txt
diabetes 4083 6013 5210 1804 2700A Cystinosis * * 13 * 2718B Primaryoxalosis * 10 15 * 2727A fabrys disease * 18 12 * 27410A
http://www.med.umich.edu/kidney/usrds/adrtab/sectionl.txt
Eyeatlas - Online Atlas Of Ophthalmology
Embriotoxon, Posterior. fabrys' disease. fabrys' disease. Foreign body. Foreign body
http://www.eyeatlas.com/contents.htm
Eyeatlas - Online Atlas Of Ophthalmology
Eyeatlas. The online Atlas of Ophthalmology.fabrys' disease. © Copyright Oculisti OnLine.
http://www.eyeatlas.com/box/195.htm
Listings Of The World Health Conditions And Diseases Rare
Includes a rare disease, organization and orphan Health/Conditions_and_diseases/Nutrition_and_Metabolism_Disorders/Cholesterol_and_Other_Fats/fabrys(9) Health
http://listingsworld.com/Health/Conditions_and_Diseases/Rare_Disorders/
Fabrys Sjukdom - Små Och Mindre Kända Handikappgrupper
fabry.dk kan ett flertal hemsidor med anknytning till fabrys sjukdom nås. Litteratur.Desnick RJ, Ioannou YA, Eng CM. galaktosidase A defiency Fabry disease.
http://www.sos.se/smkh/2002-29-163/2002-29-163.htm

Extractions: HTLM-version: 1.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Orsak till sjukdomen/skadan Det enzym, som saknas helt eller delvis vid Fabrys sjukdom, alfa-galaktosidas A alfa-galaktosidas A X-kromosombundet recessivt alfa galaktosidas A alfa-galaktosidas A.
Genzyme Says Lower Profits Are Expected
The company expects to launch two products this year, Fabrazyme, for fabrys' disease,in the United States, and Aldurazyme, a treatment for a rare genetic
http://www.businesstoday.com/business/business/genz02052003.htm
Fabry's Support Group I
have also included a copy of their newsletter which features an article on fabrys. Asmany of you know, physicians with expertise in Fabry disease are not too
http://www.fabry.com.au/news_april.htm

Extractions: Internet Information - FSIG Sickies Congratulations New Members LDA Newsletter I would like to formally thank the previous committee for their efforts and hard work over past few years. I especially would like to say a big thankyou to Margaret Davie (Mum) for her devotion and work that she put into the group since its formation in 1994. As many are probably aware the Enzyme Replacement Trials are well and truly underway with company TKT in Melbourne. Please see the report below from Dr. Kathy Nicholls for further information. Some of our members were involved in an LDA Focus Group Discussion which is explained under LDA and I have also included a copy of their newsletter which features an article on Fabrys. PO Box 269
A-galactosidase For Fabry's Disease
a Galactosidase A. Fabry's disease. Table of Contents. What is the effectivenessof a-galactosidase A in the treatment of Fabry's disease?
http://www.bham.ac.uk/arif/fabrys.htm

Extractions: WARNING The following information is only a very brief summary of that available. It is primarily designed to give readers a starting point to consider research evidence in a particular area. Readers should not use the comments made in isolation and should have read the literature suggested. Readers should also be aware that more appropriate reviews may have become available since the request was dealt with. ARIF does not routinely update the advice on these pages. What is the effectiveness of a -galactosidase A in the treatment of Fabry's Disease? Fabry's disease is a rare genetic disorder of lipid metabolism characterised by deficiency of the enzyme alpha-galactosidase A which leads to the accumulation of fatty deposits within various organs in the body. Symptoms of the disease include abdominal pain and visual impairment. Later in the course of the disease there maybe serious complications due to kidney failure, heart irregularities and progressive neurological abnormalities. More information on Fabry's Disease can be found on the website of the
Fact Sheet - Fabry Disease
MD 20892 Phone (800) 3529424 Website http//www.ninds.nih.gov/patients/disorder/fabrys/fabrysa.htm.International Center for Fabry disease Department of
http://www.lsdn.com/glance_fact_fabry.htm

Extractions: Summary of Disease Description Fabry disease results from an inherited deficiency of the lysosomal enzyme a -galactosidase A . As a result, globotriaosylceramide (Gb , also called ceramide trihexoside ( CTH ), accumulates within blood vessel walls, various organs, sweat glands, sensory ganglia of the spinal cord and certain other groups of cells in the nervous system. This progressive deposition of neutral glycosphingolipids in most visceral tissues and body fluids selectively damages: renal glomerular and epithelial (podocytes) and renal tubular epithelial cells , myocardial cells and valvular fibrocytes, neurons of the dorsal root ganglia and autonomic system and endothelial, perithelial and smooth muscle cells of the large intestine. In general, males are affected earlier and can be more severely affected than females. This is because the defect in a -galactosidase A activity is inherited on the X-chromosome . (Males have only one X-chromosome and a Y-chromosome , whereas females have two X-chromosomes and no Y-chromosome . Therefore, an affected male (
Definitions Of Genetic Disorders-G
Glycogen Storage disease VIII http//www.stepstn.com/nord/rdb_sum/400.htm. GlycolipidLipidosis (fabrys) http//www.ninds.nih.gov/health_and_medical/disorders
http://www.icomm.ca/geneinfo/def-g.htm
IComm: File Not Found!
disease Association http//www.ntsad.org. National Institute for Neurological Disordersand Strokes http//www.ninds.nih.gov/patients/disorder/fabrys/fabrys.htm.
http://www.icomm.ca/geneinfo/h.htm
Untitled Document
fabrys sygdom (FS) er den næsthyppigste lysosomale aflejringssygdom efter A reducestissue globotriaosylceramide storage in patients with Fabry disease.
http://www.dadlnet.dk/ufl/ufl0139/v_p/37507.htm

Extractions: INTERNATIONAL FORSKNING a (globotriaosylceramid). FS er en X-bunden, recessiv sygdom, og genet for a a a og nedsat Gb -aflejring i leverbiopsier (1). I et andet fase 1 og 2-studie af 15 patienter, som blev behandlet med fem infusioner af a -galaktosidase A (Fabrazyme, Genzyme), blev behandlingen fundet sikker og med effekt vurderet ved nedsat Gb a a Litteratur Schiffmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, Myers M et al. Infusion of a -galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci 2000; 97: 365-70. Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001; 68: 711-22. Schiffmann R, Kopp J, Austin H, Sabnis S, Moore DF, Weibel T et al. Enzyme replacement therapy in Fabry disease. A randomized controlled trial JAMA 2001; 285: 2743-9. a -Galactosidase isozymes in normal individuals, and in Fabry hemizygotes and heterozygotes. Ann Hum Genet Lond 1980; 43: 313-21.
Biography
In our family, my mom is the most knowledgeable about this disease. She is a carrierand her dad died at a young age from fabrys'. She had three children.
http://www.fabry.org/FSIG.nsf/092f804ad4de611b862565a600398278/06da61c5f6074ec70
Biography
hey I bet they have Fabry info , so I did lots of research on fabrys. My fiance gotto wondering about my disease while I was out of town w/ my family, so took
http://www.fabry.org/FSIG.nsf/092f804ad4de611b862565a600398278/448776ff186b6d568
1Up Health > Health Links Directory > Conditions And Diseases: Nutrition And Met
Sites. Cardiac Transplantation for Fabrys disease The Canadian Journalof Cardiology presents and article on this topic. eMedicine
http://www.1uphealth.com/links/cholesterol-and-other-fats-fabrys.html
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This Web Page is Blank Page 2. VALIANT. OVERTURE.fabrys disease. . More details coming soon!
http://www.echocore.com/Blank_Page_2.htm
Index Of /atlas
nodosum2.gif 01Aug-1994 1022 197k exanthem-viral.gif 01-Aug-1994 1022 182k extramammary-pagets.gif01-Aug-1994 1022 184k fabrys-disease-close.. 01-Aug
http://matrix.ucdavis.edu/atlas/

Extractions: Name Last modified Size Description ... Parent Directory 24-Oct-2000 09:51 - Acrolentiginous-MM-f..> 16-May-1995 00:02 15k Acrolentiginous-MM-f..> 16-May-1995 00:03 180k Acrolentiginous-MM-s..> 16-May-1995 00:05 18k Acrolentiginous-MM.gif 16-May-1995 00:10 220k Actinic-keratosis-sm..> 16-May-1995 00:14 19k Actinic-keratosis.gif 16-May-1995 00:17 244k Atypical-nevus-2.gif 01-Aug-1994 10:17 62k Atypical-nevus-close..> 01-Aug-1994 10:17 139k Atypical-nevus-syndr..> 01-Aug-1994 10:17 250k Atypical-nevus.gif 01-Aug-1994 10:17 151k BCC-Right-Jaw-sml.gif 09-May-1995 22:47 13k BCC-Right-Jaw.gif 09-May-1995 22:48 158k BCC-Sclerotic-sml.gif 09-May-1995 22:49 19k BCC-Sclerotic.gif 09-May-1995 22:50 254k BCC-arm-closeup.gif 09-May-1995 22:51 128k BCC-arm-sml.gif 09-May-1995 22:51 15k BCC-arm.gif 09-May-1995 22:52 191k BCC-chest-sml.gif 09-May-1995 22:52 13k BCC-chest.gif 09-May-1995 22:53 169k BCC-ear-pigmented-sm..>
Litteratur
fabrys sykdom (angio Keratoma corporis difusum), Gjøsund, H., Hovig, T., Skare,S., Skarbøvik 25 i The Metabolic and Molecular Basis of Inherited disease, utg
http://avd.rikshospitalet.no/smagruppesenteret/sjeldne/litteratur.html

Extractions: Esberg, B., H., 1995. Arterohepatisk dysplasi (Alagille syndrom). Lawson, M. og Shaw, V. Clinical paediatric Dietetics. ISBN 0-632-03683-4 (brosjyre). Knobloch, M-B. og Bacher, L.E., Rikshospitalet, 1997 Myhre, R.K., 1998. Alagille syndrom: et arbeidsnotat. En opp- summering av forskningslitteraturen. Smågruppesenteret, Rikshospitalet. Ribal, L., 1997. Lizzy gets a new liver . Kentucky: Bridge Resources. Wiig, I., 2000: 3 medfødte leversykdommer med gallestase: gallegangsatresi, Alagille syndrom, Aagenæs syndrom. Smågruppesenteret, Rikshospitalet. ALPORT Bjerkely, B.L. og Holme, E., 2000.
AAR: Biotech News: 13 August 2001
fabrys causes a buildup of red blood cells in major organs, and can lead to AIDS,and suggested that poverty, and not a virus, is the cause of the disease.
http://www.aar.com.au/pubs/bt/13aug/bio08.htm

Extractions: Home Publications biotech news Entire site Or use advanced search Recent publications Archives: Asia Capital Markets CLERP / FSR Competition Law Construction Energy Infrastructure Insurance Intellectual Property Native Title Privacy Product Liability Resources Tax Workplace Relations Feedback Contacts Sitemap Counsel's corner AARlumni Careers site Other AAR sites Bayer profit fall [Source: The Australian Financial Review] 4 August 2001 - Biotech companies Genzyme General and Transkaryotic Therapies have both won regulatory approval to sell drugs to treat Fabrys diseases in Europe. Competition should be fierce, with a market of only a few thousand patients, but analysts believe the global market to be worth as much as $800 million by 2005. Fabrys causes a build-up of red blood cells in major organs, and can lead to death by the age of 40. Neither company has yet received approval in the US. [Source: Reuters] 31 July 2001 - A New Zealand Royal Commission report into genetic modification, released on 30 July, has suggested taking the middle ground between total prohibition of genetically modified organisms and no regulation at all. The commission favoured "a strategy of preserving opportunities and proceeding selectively with appropriate care", the Australian Financial Review reported. The report said that applications to introduce a genetically modified crop should be taken by the Minister of the Environment. It also suggested establishing two new biotechnology watchdogs, a Bioethics Council and an independent Parliamentary Commissioner on Biotechnology to oversee the biotechnology industry. The Royal Commission report has been criticised by the Green Party who said that the recommendations ensure a faster path to the field release of genetically engineered crops than already exists.

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