21. InfoSeek Net Search Results: Gauchers Disease GAUCHER DISEASE CURRENT ISSUES IN DIAGNOSIS AND TREATMENT . This statement GauchersAssociation http//www.wisebuy.co.uk/gaucher/ Contents Page . http://icarus.med.utoronto.ca/week7/gauch.htm

Gaucher Disease: A Diagnosis, Evaluation and Treatment Summary http://neuro-www2.mgh.harvard.edu/gaucher/gaucherdiag.html The Most Common Inherited Lysosomal Storage Disease . Gaucher Disease, a rare, inherited, and potentially fatal disorder, is characterized by decreased levels of the enzyme glucocerebrosidase. . Living with Gaucher Disease http://neuro-www2.mgh.harvard.edu/gaucher/living.html :A guide for patients, parents, relatives, and friends. . Contents . Introduction . What is the history of Gaucher disease? . Gaucher disease: The most common lysosomal storage disorder. . Is there a Gaucher Disease Technology Assessment 16 http://text.nlm.nih.gov/nih/ta/www/16.html DRAFT DRAFT DRAFT * . GAUCHER DISEASE: CURRENT ISSUES IN DIAGNOSIS AND TREATMENT . National Institutes of Health Technology Assessment Conference Statement February 27-March 1, 1995 . This statement Gauchers Association http://www.wisebuy.co.uk/gaucher/ Contents Page . Contents Page on Compuserve and for North America . This is the same information but the pages are stored on Compuserve in the USA so access may be faster if you are located in North Cerezyme for Gaucher's Disease http://pharminfo.com/pubs/msb/cerezym.html

22. Children's Gaucher Disease - Family Stories Our Journey With Jared (Jared Patrick Ashley), Living With Children's GauchersDisease (Kristina Caffrey), Living With Children's gauchers disease (Madeline http://www.childrensgaucher.org/research/familystories.htm

Visit Family Stories and find out more about these children The following stories are about some of the children currently battling Children's Gaucher disease as well as those who have lost their lives to this disease. With your help, we can find a cure. Our Journey With Jared (Jared Patrick Ashley) Living With Children's Gauchers Disease (Kristina Caffrey) Living With Children's Gauchers Disease (Madeline Collin) A Heart Larger Than Life (James Tyler Cooper) A Smile That Could Melt Your Heart (Ryan's James Conklin) Our Little Angel (Joseph DeFacci) Our Angel (Andrew Dennis Doran) Precious Little Miracles (Grant and Garet Geyer) Heaven Birthday (Gregory Macres) Our Gaurdian Angel (Lauren Marsh) A Life of Hope (Noah Jerome Shaffer) Our Little Princess (Mikkey Timmer) Living With Children's Gaucher Disease (Victoria Villar) An Inspiration To Us All (Cameron Watson) Living with Children's Gaucher Disease (Valerie Yannias) Click here to donate 100% of all donations go directly to Gaucher Disease medical research Children's Gaucher Disease Research Fund P.O. Box 2123, Granite Bay, California 95746-2123 USA

23. Gaucher Children - Family Stories children. Madeline's Story Living with Children's gauchers disease byTanya CollinHisted. What was gauchers disease I wanted to know? I http://www.childrensgaucher.org/research/familystories/madaline.htm

Visit Family Stories and find out more about these children Madeline's Story Living with Children's Gauchers Disease by Tanya Collin-Histed I don't know what the future holds in store for my daughter, who knows what tomorrow will bring? Madeline continues to cope with her illness and I continue to cope with life. In coping with life I have recognised that there is very little publicity, research and information about type 3 Gauchers Disease. I am currently working with Gregory Macres at the Children's Gaucher Research Fund, and other families and professionals around the world to raise the profile of the disease, improve communication between families and professionals, and encourage new research into the disease. It is a huge task and I know it will take time and a lot of energy, but together I believe that it can be achieved. I am just a parent who wants to be able to give my daughter a chance at life. I am no different to any other parent, I just have a bigger battle to fight. Tanya Collin-Histed Watford, England

24. Gaucher Disease — Links Center. gauchers disease, UK The Gauchers Association was formed in1991 to meet the needs of those suffering from gauchers disease. http://www.gaucherdisease.com/links.html

Other On-Line Sources Gaucher Disease Treatment Program The Massachusetts General Hospital (at Harvard Medical School) Gaucher Center Gauchers Disease, UK The Gauchers Association was formed in 1991 to meet the needs of those suffering from Gauchers disease. Its members are mainly in the UK and Ireland. National Gaucher Foundation The mission of The National Gaucher Foundation is to fund research, meet ever-increasing patients' needs, provide education and awareness, develop patient groups and eradicate Gaucher Disease. NGF has active local chapters in Philadelphia and Chicago. Gaucher Disease Awareness and Prevention / Genetic Disorders / Gaucher Disease Doctors' Guide Guide to Complete Internet Medical Resources / Gaucher Disease Gaucher Disease Diagnosis and Treatment Program - Univ. of Pittsburgh The National Organization for Rare Disorders, Inc. Disease Information / Gaucher Disease National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, Maryland

25. European Patients Support Groups The number of men, women and children suffering from gauchers disease in Europeis very small compared to the hundreds of millions of people who populate the http://www.europeangaucheralliance.org/egaintro2002.htm

European Patients Support Groups The number of men, women and children suffering from Gauchers disease in Europe is very small compared to the hundreds of millions of people who populate the continent. Yet with the communication network of the 21st century, families afflicted with Gauchers disease can reach each other both within their own countries and world-wide with relative ease. Patient support groups in many European countries have been established due to a number of factors, not least the availability of an effective treatment and the hard work and dedication shown by many doctors and scientists. The sufferers and their families themselves have played a major part in building up a network of support. The European Gaucher Alliance is an umbrella organisation linking patient support groups. The first patient support group in Europe was formed in the north of Sweden in 1975 by parents of children with Type 3 Gauchers disease. The aim of the Norrbotten based Morbus Gaucher-foreningen was to promote and look after patients' interests regarding treatment, care, rehabilitation and social security. The group represented patients when contacting different authorities and gave out relevant information about the disease. Today they have about 120 members.

26. European Gaucher Alliance Meeting, Jerusalem 2000 After each representative from 11 member countries spoke about their country's achievementsand problems regarding gauchers disease, Raul Chertkoff summarised http://www.europeangaucheralliance.org/ega00rep.htm

European Gaucher Alliance Meeting, Jerusalem 2000 European Gaucher Alliance Gauchers News Contents Eleven countries were represented by their patient associations at the European Gaucher Alliance (EGA) meeting which took place in Jerusalem on 5-6 September 2000. Although entitled the first EGA meeting, members had met on three previous occasions, in Trieste in 1994 when the EGA was formed, in Maastricht in 1996 and Lemnos in 1999. However this was the first time that the EGA meeting was held separately from the European Working Group of Gaucher Disease Workshop. After each representative from 11 member countries spoke about their country's achievements and problems regarding Gauchers disease, Raul Chertkoff summarised their views by saying that the principle goal for the patient support groups is to achieve treatment for all patients who need it. It is necessary to inform doctors, carers and patients about diagnosis and treatment. Patients Should Have Rights He said that lots of doctors still do invasive tests, for example bone marrow aspiration when a simple blood test would be sufficient. Also doctors gave incorrect treatment because they did not know that enzyme replacement therapy exists. Fern Torquati (Italy) said some patients were frightened to say no to invasive tests or to question their doctor about appropriate treatment.

27. GauchersAssociation Definition of conditions covered gauchers disease Type 1, 2 and 3. gauchers diseaseis a rare genetic disease in which the body lacks a chemical or enzyme http://www.eyeconditions.org.uk/GauchersAssociation.asp

SP ecific E ye C ondition S www.eyeconditions.org.uk Gauchers Association Tanya Collin-Histed, Neuronopathic Family Representative 25 West Cottages London NW6 1RJ Tel: 0207 433 1121 Fax: 0207 431 5883 Opening hours: 10 a.m. to 5.30 p.m. Monday to Friday (24 hour ansaphone) E-Mail: Tanya@collin-histed.freeserve.co.uk Website: http://www.gaucher.org.uk Definition of conditions covered: Gauchers Disease Type 1, 2 and 3. Gauchers Disease is a rare genetic disease in which the body lacks a chemical or enzyme called glucocerebrosidase. This enzyme normally breaks down a fatty waste product called glucocerebroside. Without the enzyme, glucocerebroside accumulates in the body, mostly in the liver, spleen, and to a lesser extent in the bones, lungs and other organs. In some people, glucocerebroside accumulates in the nervous system in addition to the other areas. Such patients are said to have Neuronopathic Gauchers Disease (NGD). Type 1 GD is referred to as non-neuronopathic, while type 2 and 3 are referred to as neuronopathic forms. Sufferers of Neuronopathic Gauchers Disease have an eye movement problem called 'oculomotor apraxia' or 'saccade initiation failure'. There are several practical problems that may arise as a result of these abnormal eye movements. e.g. the sufferer is unable to look from side to side quickly, therefore they are particularly vulnerable in a crowd, crossing the road etc. In children this eye abnormal eye movement will have significant educational issues

28. ALGLUCERASE Licensed Indications ‘For use as long term enzyme replacement therapy in patientswith a confirmed diagnosis of Type 1 gauchers disease who exhibit severe http://www.keele.ac.uk/depts/mm/MTRAC/ProductInfo/verdicts/A/ALGLUCERASEv.html

ALGLUCERASE Intravenous Infusion TRADE NAME: CEREDASE MANUFACTURER: Genzyme Date of Launch: 1995 Pharmacological class: Glucocerebrosidase enzyme BNF Section: 9.8.1 Licensed Indications: Moderate to severe anaemia after exclusion of other causes such as iron deficiency. Thrombocytopenia with bleeding tendency. Bone disease after exclusion of other causes such as vitamin D deficiency. Committee's Recommendations Clinical Evidence Clinical trials with alglucerase treatment have been predictably small due to the rarity of Gauchers disease. These have demonstrated that alglucerase treatment (by intravenous infusion) ameliorates or normalises the typical disease manifestations associated with severe type 1 Gauchers disease. Safety There is insufficient evidence of safety with alglucerase due to limited clinical experience. Long term safety data are lacking. Verdict Additional Information including Economic Considerations: Alglucerase is considered the treatment of choice for patients with severe type 1 Gauchers Disease. The optimum dose which balances cost and benefit is yet to be defined.

29. Genzyme Australasia: Gaucher Disease Explained Simply Gaucher disease explained in simple terms. What is gauchers disease? Howdoes Gaucher affect you? How do you get it? How is Gaucher diagnosed? http://www.genzyme.com.au/public/gd_explained.htm

What is Gaucher Disease? How does Gaucher affect you? ... available? Gaucher Disease explained What is Gaucher disease? Gaucher disease is an inherited disorder caused by a deficiency of an important enzyme in the body called glucocerebrosidase. Normally found inside a compartment of the cell (the lysosome), b -glucocerebrosidase breaks down a particular glycolipid (fatty substance) called glucocerebroside, sometimes known as glucosylceramide. In people with Gaucher disease, as a result of glucocerebrosidase deficiency, glucosylceramide collects in scavenger cells (macrophages) of the body. Cells containing this undigested lipid become swollen. These cells, called Gaucher cells, most commonly accumulate in the liver, spleen and bone marrow. It is the accumulation of Gaucher cells that causes the symptoms of the disease. Top of Page How does Gaucher disease affect you? There are 3 types of Gaucher disease - Types 1, 2 and 3. These were named in the order they were first described by doctors and can vary quite markedly in signs and symptoms. Type 1 Gaucher disease is by far the most common form of Gaucher disease. Patients with Type 1 Gaucher disease can display a wide variation of clinical signs - even brothers and sisters with Gaucher disease can be affected very differently. The table below shows some of the signs and symptoms of Type 1 Gaucher disease.

30. Niemann-Pick Disease Group (UK) OGT 918 Clinical Trials OGT-918 and NPC OGT 918 and gauchers disease. NewDiscoveries NPC1 Protein Structure NPC2 Gene. OGT918 and gauchers disease. http://64.77.54.174/npdg-uk/vol8-1/research.htm

Research Updates OGT 918: Clinical Trials - OGT-918 and NPC OGT 918 and Gauchers Disease New Discoveries: NPC1 Protein Structure NPC2 Gene UK News: Lottery Project - Gene Replacement Therapy - NPC UK Research Boost SSIEM International Conference USA News: NPC Research News - It's a Pump A Light in the Darkness APMRF Funds 18 Research Grants Message from Dr Pentchev Clinical Trials - OGT 918 and NPC Oxford GlycoSciences are keen to keep us informed of progress and will be issuing a regular bimonthly newsletter, which will give updates on clinical studies and developments within OGS. The first issue will be produced in the New Year and go to all the patient groups including Niemann-Pick, Gauchers, Fabry etc. and be posted on the OGS lnternet site www.ogs.com. This will provide a consistent supply of information to the patient groups and is a really positive development that will be of benefit to both OGS and the patient communities. OGT918 and Gauchers Disease A trial of OGT918 for Gaucher patients with the neuronopathic form of the disease is in the preliminary stages of discussion between Dr Roscoe Brady and Dr Raphael Schiffmann of the National Institutes of Health in Bethesda, USA and Oxford GlycoSciences. The proposed trial would take place at the NIH. NPC1 Protein Structure NPC1 is proving to be a protein whose function has hidden depths and whose history dates back to the dawn of life on earth. Recent scientific papers published indicate significant similarity to proteins found in bacteria and from analysis of the protein structure and orientation within cellular membranes, it is possible for scientists to make an informed estimate of the role of NPC1 in cell operation. Considerable scientific interest has been generated in the NPC1 aspect of cell operation. This can only be good for the families affected in that greater understanding will assist in the formulation of potential treatments. In addition, more scientists will be drawn to this area of research and this in turn could accelerate progress towards an effective treatment for NPC.

31. Niemann-Pick Disease Group (UK) certain genetic storage diseases was a significant discovery which has led to thedevelopment of a clinical trial of OGT 918 on patients with gauchers disease. http://64.77.54.174/npdg-uk/vol7-1/research.htm

Research Updates Type C News OGT-918 Update Lottery Grant NNPDF Research Update ... Conference Research News on Niemann-Pick Disease - Type C Family Screening for NP-C The recent advances in mutation analysis of NP-C patients has revealed over 100 different mutations and it is likely that more will be identified as new families are diagnosed. What does this mean to us and how will it affect our plans to assist families? It is a complex topic from all viewpoints, the main ones being: the scientific explanation, the relationships between family members and the potential legal implications. Science First of all, what is a mutation? The answer is not simple and I'm not sure if the scientific world has an agreed definition. Basically it is a change in the expected sequence of a DNA molecule in the cell. An outline explanation is made below: Each of the 100,000 or so genes that define our life, in terms of development, personality and death, specify the production of a specific protein. These proteins are responsible for the operation of the many 'chemical factories' that exist within each of the billions of cells of our bodies. Many proteins are enzymes which catalyse (speed up) the chemical reactions, needed to break down and to build the many complex molecules which keep us alive. Some of the proteins are required to transport these molecules to the places where they are needed in the cell. NPC1 is a transport protein. All proteins are constructed from amino acids, connected together, like a string of pearls, which is then folded in a particular way, to enable the protein to function correctly. Each of the amino acids is specified by a coded DNA sequence. The gene is a combination of many of these sequences and also includes many other DNA sequences which appear to be inactive (sometimes known as 'junk' DNA).

32. Unit 1 Chapter 3 Community disease and research on treatment. gauchers disease This is anotherdisease in which the lysosomes malfunction. In this case, they http://www.phschool.com/science/biosurf/basis_of_life/1_3comm.html

Cellular Research Chapter 3 - Cell Structure and Function Disruptions of cellular function can cause terrible health problems. For example, the genetic disease cystic fibrosis disrupts the movement of sodium ions across the cell membrane, resulting in life-threatening problems in the lungs and the digestive system. To learn more about various diseases that stem from problems with cells and the research aimed at preventing, treating, and curing them, visit the following sites: Cystic Fibrosis Foundation Visit this site to learn more about cystic fibrosis and the attempts to develop a treatment for this disease. Tay-Sachs Disease Lysosomes are the organelles of intra-cellular digestionthey break down things inside the cell. In Tay-Sachs disease, a certain protein is missing from the lysosomes. As a result, some fatty substances cannot be broken down. Instead, these substances build up and destroy brain and nerve cells. This NIH site will provide you with more information on the disease and research on treatment. Gauchers Disease This is another disease in which the lysosomes malfunction. In this case, they are unable to break down glucocerebroside, another fatty substance. As you'll see when you visit this site, there's lots of research into treatments for this disease.

33. G-CSF G6PD Deficiency Drugs To Be Avoided In Gabapentin Diabetic and; Gastroenteritis; Gastro-oesophageal reflux disease; GastrobidContinus; Gastrocote; Gastroflux; gauchers disease; Gauze and cotton http://bnf.vhn.net/bnf/index/index_g.html

G-CSF G6PD deficiency drugs to be avoided in Gabapentin diabetic neuropathy neuropathic pain postherpetic neuralgia trigeminal neuralgia Gabitril Galactokinase deficiency, ACBS Galactomin Galactorrhoea Galactosaemia, ACBS Galactose intolerance, ACBS Galake Galantamine Galcodine Galenamet Galenamox Galenphol Galfer Galfer FA Galfloxin Gallamine Galloways Gallstones Galpamol Galprofen Galpseud Gamanil Gamgee Tissue, blue label Gamgee Tissue, pink label Gamma globulin Immunoglobulins, normal Gammabulin Gammagard S/D Gamolenic acid breast pain eczema Ganciclovir eye infusion table Ganda Ganglion-blocking drugs Ganirelix Garamycin ear eye Gardenal Sodium Gardnerella vaginalis Gas cylinders Gas-gangrene prophylaxis Gastrectomy ACBS iron therapy vitamin B12 Gastric emptying, poisoning and Gastro-enteritis Gastro-oesophageal reflux disease Gastrobid Continus Gastrocote Gastroflux Gauchers disease Gauze and cotton tissue Gauze swabs filmated Gauze, cotton ribbon, absorbent viscose and Gaviscon preparations Gaviscon preparations infant Gelatin infusion Geliperm Gelofusine Gels, definition

34. Gau – Gra gauchers disease. http//achoo.com/directory/hhd/category.asp?c=BloLym r=_g_l. GauchersDisease. http//achoo.com/directory/hhd/category.asp?c=NutMet r=_g_l. http://www.healthmednet.com/Gau - Gra.htm

Gau – Gra URL/LINK Gaucher Disease http://health.excite.com/ gaucher disease http://webmd.lycos.com/adam/asset/adam_disease_articles/a_to_z/g Gaucher Disease http://www.ailments.com Gaucher Disease http://www.familyvillage.wisc.edu/card_gh.htm Gaucher Disease http://www.healthcentral.com/library/library.cfm Gaucher Disease Gaucher Disease Gaucher Disease http://www.mic.Ki.Se/Diseases/index.html Gaucher Disease http://Www.Nimh.Nih.Gov/Publicat/Index.Htm Gaucher Disease Gaucher Disease http://www.webcrawler.com/health/diseases_and_conditions/conditions_a_z/conditions_g_h Gaucher Disease Gaucher disease http://www.healthanswers.com/patco/videos_main.asp Gaucher Disease http://www.laurushealth.com/library/healthguide/illnessconditions/pagebuilder.asp?URL=Default.htm Gaucher Disease (8) http://dir.yahoo.com/Health/Diseases_and_Conditions/All_Diseases_and_Conditions Gaucher’s disease http://content.health.msn.com/encyclopedia Gaucher’s Disease http://pharminfo.com/disease/disdb_mnu.html Gaucher’s Disease http://www.drkoop.com/conditions/encyclopedia/index/g.asp Gaucher’s Disease http://www.health.gov/NHIC/NHICScripts/AlphaKey.cfm?Alpha

35. Climb Links Fundraising Provides links to Charity Sites. Gauchers Association Informationabout gauchers disease. Gingerbread Support for lone parents. http://www.climb.org.uk/Links.htm

Links to other useful sites: C hildren L iving with I nherited M eta b olic Diseases Alliance of Genetic Support Groups USA based organisation Ability Net Acorns Children's Hospice Batten Support and Research Trust CAH Climb Congenital Adrenal Hyperplasia Support Group CORD - Canadian Organisation for Rare Disorders The Childrens Trust Specialist information for children with complex health needs Contact a Family Contains a useful database Coventry Social Services - Guide to 'Carers Act' 1996 The Cystinosis Foundation UK and Eire Department of Health and Children (Eire) Department of Social Security Information on benefits English Nursing Board Database of nursing literature Eurordis - European Organisation for Rare Disorders Family Friendly Fun Website Special needs family friendly fun - Fatty Oxidation Disorders Family Support Group Fundraising Provides links to Charity Sites Gauchers Association Information about Gauchers disease Gingerbread Support for lone parents Glycogen Storage Disease UK Basic information about Glycogen Storage Disease Haemachromatosis Society Support for people with GH Health Education Authority Provides links to a variety of other health related sites Health on the Net Foundation Hosts MARVIN a specialist search engine for health and medicine Lowe Trust The UK Lowe Syndrome Trust

36. (almost) All The New Zealand Web Sites You Will Ever Want! PIPERS Page Of New Ze Fragile X. Fragile X Support Group. Gauchers Association of New Zealand gauchers disease (or here). Hodgkin's disease. Huntington's disease. http://www.piperpat.co.nz/nz/health/genetic.html

Bottom of Page PIPERS Home PIPERS New Zealand Pages Home Search This Site ... Add/Submit/Modify a Link PIPERS New Zealand Pages This page is regularly updated. However, with over 50,000 links in our NZ pages, maintained on a part-time basis, it is impossible to keep up with all of them. If you find that any of the links are not working, wrongly labelled, or in the wrong place, or if you would like to suggest some useful new links, please let us know so that we can modify the listing. Click here to Email us But for information about the contents of this page, don't write to us, follow the links on the page instead. Genetic Disorders ABCD - Aiming for the Best for Children with Down Syndrome. APECED - Jeanette's Home Page. Benjamin's Syndrome Cleft Lip and Palate Support Group Cri Du Chat Support Group of Australia Down Syndrome ... The Foot Club - club foot, talipes equino varus. Fragile X Fragile X Support Group Gauchers Association of New Zealand - Gauchers Disease (or here Hodgkin's disease Huntington's disease Huntington's Disease Association ... Xtra Polymyalgia Rheumatica PIPERS Health Pages Health: General Overseas Medicine Links Health Resorts Retirement Homes ... Health Foods Medical Categories Health Groups Index Abortion Aged Alcohol ... General Health Care Genetic Disorders Genitals Glands Heart Hepatitis ... Return to the PIPERS New Zealand Pages Home Page or Long List of Contents Return to the Home Page For information about these web pages, or about Intellectual Property, contact

37. Ananova - Business - Oxford Glycosciences PLC good feedback from FDA Oxford Glycosciences PLC said it plans to submit an amendmentto its US new drug application for its gauchers disease treatment Zavesca http://www.ananova.com/business/?keywords=Oxford Glycosciences PLC&nav_src=more_

38. Ananova - Oxford Glycosciences Says ISD Unit To Reach Profitability In 2005 said that its Inherited Storage Disorders unit should be profitable by 2005, particularlyif its Zavesca drug for the treatment of gauchers disease is given http://www.ananova.com/business/story/sm_678423.html?menu=

39. Children's Fragile X Syndrome FreemanSheldon Syndrome Friedreichs Ataxia Friends GalactosemiaGastroesophageal Reflux GE Reflux gauchers disease Genetic Counseling http://www.seattlechildrens.org/parents/childcite/IntermediateResults.asp?KeySub

40. Worldbook Medical Encyclopedia > Gait - Gynecomastia Gastrointestinal series; Gastrointestinal tract; Gastroscopy; Gastrostomy;gauchers disease; Gene; Generic; Genetic abnormality; Genetic http://www.surfablebooks.com/wbmedical/31380/1.htm

Worldbook Medical Encyclopedia Gait - Gynecomastia Gait - Gynecomastia Search the Web with WorldBook All of Surfable Books Match: All Any Boolean Sub Topics of Gait - Gynecomastia Gait Galactorrhea Gall Gall bladder ... Help

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