61. 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

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.

62. 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

63. Eyeatlas - Online Atlas Of Ophthalmology Embriotoxon, Posterior. fabrys' disease. fabrys' disease. Foreign body. Foreign body http://www.eyeatlas.com/contents.htm

ANATOMY Eye anatomy ANTERIOR CHAMBER Angle, Closure Angle, Pigmentation Anterior chamber IOL Atalamia ... Synchysis scintillans CHOROID Angioid Streaks CONJUNCTIVA Allergic conjunctivitis, Giant papillae Allergic conjunctivitis, Giant papillae Allergic conjunctivitis, Giant papillae Amyloidosis ... Vernal conjunctivitis CORNEA Abrasion Abrasion Abrasion Alkali burn ... Wilson's disease EXTRAOCULAR MUSCLES Accomodative strabismus Accomodative strabismus Brown's syndrome Duane's syndrome ... Vertical dissociated deviation GLOBE Anophthalmos Anophthalmos GLAUCOMA Angle recession Glaucoma, Acute Glaucoma, Closure angle Glaucoma, Closure angle ... Trabeculectomy, Bleb INTRAOCULAR PRESSURE Bleb after trabeculectomy Glaucoma cupping Neovascular glaucoma Pseudoexfoliatio IRIS AND CILIARY BODY Aniridia Anisocoria Ciliary body adenoma Coloboma ... Wilson's disease LACRIMAL SYSTEM Canaliculitis Canaliculitis Dacryoadenitis Dacryocele ... Pseudocanaliculitis LENS Aphakia, Surgical Capsular fibrosis Capsular fibrosis Capsule rupture ... Pseudoexfoliatio lentis LID Allergy, Atropine

64. Eyeatlas - Online Atlas Of Ophthalmology Eyeatlas. The online Atlas of Ophthalmology.fabrys' disease. © Copyright Oculisti OnLine. http://www.eyeatlas.com/box/195.htm

Eyeatlas The online Atlas of Ophthalmology Fabrys' disease Oculisti OnLine

65. 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/

66. 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

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Fabrys sjukdom Alfa-galaktosidas A-brist Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2002-12-18 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. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Det enzym, som saknas helt eller delvis vid Fabrys sjukdom, alfa-galaktosidas A alfa-galaktosidas A X-kromosombundet recessivt Symtom Diagnostik alfa galaktosidas A alfa-galaktosidas A.

67. 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

68. 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

INSIDE THIS ISSUE (Click on a link) Presidents Message - New Committee Enzyme Trials - Letter from Dr. Kathy Nicholls Internet Information - FSIG Sickies Congratulations New Members LDA Newsletter President: Megan Fookes Vice President: Cliff Heussler Secretary: Lea Chant Treasurer: Ross Clark Ordinary Members: Cheryl Emmerich, Margaret Davie, Mardi Versteegen, Public Officer: Margaret Davie Pictured: 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 Willoughby 2068 NSW This being my first newsletter as President of FSG is exciting and challenging. We hope to ensure that the ongoing communication with everyone is useful and informative and will always welcome input and feedback from all our members.

69. 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

a - Galactosidase A Fabry's Disease Table of Contents The Problem Submitted for ARIF to Advise Upon Reviews Identified Comments 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. The Problem Submitted for ARIF to Advise Upon 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 Return to Table of Contents Reviews Identified No systematic reviews were identified Primary Studies Identified Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743-49

70. 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

Back to top Overview Fact Sheets In-Depth Articles ... Glossary Name of Disease Fabry Disease, also known as Anderson-Fabry disease and Angiokeratoma Corporis diffusum (universale). 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 (

71. 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

The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter G Click on the link next to the disorder to view its definition. G Syndrome opitzgbbb.htm G6PD Deficiency g6pd.htm g6pd.htm GA I ga1.htm GA IIB ga2.htm GA IIA ga2.htm GA II ga2.htm fod.htm Galactorrhea-Amenorrhea Syndrome Nonpuerperal forbalb.htm Galactorrhea-Amenorrhea without Pregnancy adc.htm Galactosamine-6-Sulfatase Deficiency morquio.htm Galactose-1-Phosphate Uridyl Transferase Deficiency galactos.htm Galactosemia galactos.htm GALB Deficiency schindler.htm Galloway-Mowat Syndrome galloway.htm Galloway Syndrome galloway.htm GALT Deficiency galactos.htm Gammaglobulin Deficiency agamprim.htm GAN gan.htm Ganglioside Neuraminidase Deficiency ml4.htm Ganglioside Sialidase Deficiency ml4.htm

72. 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

File Not Found We're sorry, but the file you're looking for can't be found. You might want to try starting at our front page or a list of iComm accountholders , or you can search the site This site was last updated on 30 August 2002. iComm Questions regarding the iComm web site should be sent to our webmaster

73. 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

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.

74. 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

75. 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

76. 1Up Health > Health Links Directory > Conditions And Diseases: Nutrition And Met Sites. Cardiac Transplantation for Fabry’s disease The Canadian Journalof Cardiology presents and article on this topic. eMedicine http://www.1uphealth.com/links/cholesterol-and-other-fats-fabrys.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Cholesterol and Other Fats : Fabry's See Related Categories Health: Conditions and Diseases: Rare Disorders Sites Cardiac Transplantation for Fabry’s Disease The Canadian Journal of Cardiology presents and article on this topic. eMedicine: Fabry Disease University of Texas MD describes symptoms, treatment, and prognosis for patients suffering with this rare but severe lysosomal disorder. Fabrazyme – A Treatment for Fabry Disease This web site is intended for use by European physicians only. You must log-in to use this site. Fabry Disease Home Page Information for patients and their families along with clinical and biochemical information. Fabry Disease Registry Information about an ongoing observational database that tracks the natural history and clinical outcomes of patients with this disease. Fabry Support and Information Group Information about the group and this disease. Join the group free of charge and receive a newsletter.

77. Blank Page 2 This Web Page is Blank Page 2. VALIANT. OVERTURE.fabrys’ disease. . More details coming soon! http://www.echocore.com/Blank_Page_2.htm

78. 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/

Index of /atlas 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..>

79. 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

NYHETER/AKTUELT PUBLIKASJONER SJELDNE SYKDOMMER KONTAKT OSS TIL FORSIDEN English version Tips oss om gode nettsteder! Smågruppesenteret vil formidle gode nettsteder som omhandler sjeldne sykdommer og syndromer. Både for brukere og fagfolk. LITTERATUR Alagille Alport Analatresi Fabry ... PKU ALAGILLE 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.

80. 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

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 International News Bayer profit fall Fabrys drug battle ahead New Zealand GM inquiry South African cabinet minister's AIDS remedy ... US house votes to ban human cloning International News Bayer profit fall [Source: The Australian Financial Review] Fabrys drug battle ahead 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] New Zealand GM inquiry 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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