81. Children's Gaucher Disease - Resource Directory Research Fund is a nonprofit organization, that raises funds to coordinate and support research aimed at finding a cure for Type 2 and Type 3 Gaucher disease. http://www.childrensgaucher.org/resource/resourcedirectory.htm

Visit Family Stories and find out more about these children Resources On The Internet alphabetical order Brave Kids http://www.bravekids.org/ Web resource center for kids with chronic or life threatening illnesses. Children's Gaucher Research Fund http://www.childrensgaucher.org The Children's Gaucher Research Fund is a non-profit organization, that raises funds to coordinate and support research aimed at finding a cure for Type 2 and Type 3 Gaucher disease. Compassionate Friends http://www.compassionatefriends.org/ The mission of The Compassionate Friends is to assist families in the positive resolution of grief following the death of a child and to provide information to help others be supportive. Comprehensive Gaucher Treatment Center - Los Angelas - California http://gaucherwest.com Gaucher Associations From Around The World http://www.gaucher.org.uk/overseas.html This web site will provide you with convenient links to Gaucher Associations from around the world. Gaucher Association, UK http://www.gaucher.org.uk

82. African American Issue Woman Health Observance La Crescent Gauchers Disease Medi article smoking long term care medical resource hodgkins lemieux mario family leave act see family and medical leave act disease pagets picture medicare http://www.health-directory.us/hitler-parkinsons-health-condition_544147.html

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83. Mayenne Properties - What We Do In June 2000 my Dad was diagnosed with a very rare genetic disorder called Gaucher disease. Gaucher disease causes most problems within the skeletal system. http://www.mayenneproperties.com/charity.asp

Kate's Story In June 2000 my Dad was diagnosed with a very rare genetic disorder called Gaucher Disease. There is no cure for Gaucher Disease, but it is treatable and every week my Dad had to infuse himself with a man made enzyme. Normally this enzyme is in everyone's blood, but it is missing in people with Gaucher Disease. Gaucher Disease causes most problems within the skeletal system. A lot of Gaucher cells group together and cause oxygen to stop following naturally through the bones. This happened to my Dad and part of his spine collapsed and he was in terrible pain. He had to go into hospital for seven weeks, even over the Christmas holiday, and have an operation to put metal plates in his back to support it. Gaucher Disease also causes the spleen and the liver to swell up to twenty times their normal size. This then causes problems within the blood. My Dad used to get bruises very easily and had to have many blood transfusions. The man made enzyme helps the body to get back to normal, although people with this disease have to do an infusion every week for the rest of their lives. Most people are able to lead relatively normal lives but sometimes have severe bone pain.

84. Gaucher's Disease - General Practice Notebook Gaucher s disease. Medical search. Gaucher s disease is an autosomal Three types of Gaucher disease are described. Common to all three types http://www.gpnotebook.co.uk/medwebpage.cfm?ID=-2147090425

85. Links To Other LSD Sites LSDN.com Gaucher disease Links. National Gaucher Foundation gaucher.htm; Gaucher’s disease Page UK/Ireland nonprofit site. News http://www.lsdn.com/links.htm

Back to top General LSD Societies Testing ... Other LSDs General Rare Genetic Disease Information Rare Genetic Diseases in Children Description and listing of all LSDs. Detailed but understandable guide about human genetic diseases and LSDs in particular http://mcrcr2.med.nyu.edu/murphp01/lysosome/lysosome.htm Office of Rare Diseases at NIH Focus on patients, information and support groups. Links to OMIM, PubMed and other resources http://rarediseases.info.nih.gov/ord/info-diseases.html National Organization for Rare Disorders Rare disease database, news, events http://www.rarediseases.org Pediatric Disease Database Database of pediatric diseases http://www.icondata.com/health/pedbase/pedlynx.htm Gene Clinics Searchable, expert-authored, peer reviewed disease database http://www.geneclinics.org TKT-5S European focused information about LSDs, medical literature, FOS, calendar of events http://www.tkt5s.com Societies and Support Groups for LSDs Lysosomal Diseases Australia Information on LSDs, newsletter, links http://www.lda.org.au

86. News From Around Europe... Erikson who looks after patients in Sweden (where the first patient association was formed 27 years ago) was on hand to discuss Gaucher disease with Danish http://www.europeangaucheralliance.org/egaeurnews2002.htm

News From Around Europe... Denmark Dr Anders Erikson who looks after patients in Sweden (where the first patient association was formed 27 years ago) was on hand to discuss Gaucher disease with Danish sufferers and their families at their second meeting in Copenhagen in September 2001. He is pictured with Anne-Grethe Lauridsen , the main patient organiser. The guests travelled from all over Denmark to hear experts talk about treatment for Gaucher disease and discuss the formation of a Danish patient association. Dr John-Erik Stig Hansen , Acting Director of the Centre for Rare Disease and Disabilities, spoke about gene therapy and other new techniques including using adult and embryonic stem cells but he stressed that there remained practical, ethical and political issues which still needed to be resolved using these methods. UK and Ireland At the web site of the Gauchers Association at www.gaucher.org.uk there are over 200 pages explaining all aspects of treatment with many personal experiences. All the pages have been translated into Spanish and recent articles are also translated into Russian. The site is updated usually twice a year in March and September from issues of the Association's newsletter Gauchers News. Italy The Italian Gaucher Association L'Associazione Italiana Gaucher is holding its 10th Anniversary Congress on 9-12 May 2002 in Tuscany. Speakers will include many Italian experts on Gaucher disease and overseas speakers

87. Understanding Gaucher Bones Dr Henry Mankin spoke about the bone complications of Gaucher disease at two talks recently one at the Royal Free Hospital, London on 9 November 1999 and the http://www.gauchersoutheast.com/bones.html

Understanding Gaucher Bones Dr Henry Mankin spoke about the bone complications of Gaucher Disease at two talks recently: one at the Royal Free Hospital, London on 9 November 1999 and the other at the US Gaucher Conference in Arlington, Virginia on 3 October 1999. Dr Mankin is Chief of the Gaucher Disease and Bone Cancer Program at Massachusetts General Hospital in Boston, USA and has served as Chief of Orthopedic Surgery and Professor of Orthopedics in Harvard Medical School. This is a summary of both talks by Susan Lewis 'Bone is a living tissue,' explained Dr Mankin. 'It reflects everything that goes on in your body and everything in your body contributes to your bones. Bone is not a permanent fixture. It is alive, made up of crystals and normally recycles regularly.' Gaucher Cells Dr Mankin said that there are several different types of cells in your bones: osteoblasts which build bone, osteocytes which care for the bone and osteoclasts which destroy the bone. Another set of cells in the bones are guest cells: bone marrow cells which make blood including the red and white cells. Gaucher cells accumulate in the bone marrow and grow bigger and bigger. 'The bone marrow fills up with them. The Gaucher cells throw out the healthy guest cells and there is less bone marrow. The balance between osteoblasts and osteoclasts are closely tied. If less bone is made, then less bone is destroyed; and if less bone is destroyed, then less bone is made. I believe that in patients with Gaucher Disease the osteoclasts are in very small number as compared with other people and this stops the osteoblasts building up more bone. These Gaucher cells live forever.'

88. Gaucher Disease Gaucher disease. Pronounced goshay disease. Definition. Gaucher disease is a rare, inherited disease that causes the abnormal storage of fatty substances. http://www.sbrmc.com/html_healthgate/html/0_236/23624.php

Gaucher Disease Pronounced: go-shay disease Definition Gaucher disease is a rare, inherited disease that causes the abnormal storage of fatty substances. There are three types of Gaucher disease: Type I Type II Type III Causes Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Instead of degrading naturally, glucocerebroside builds up in the spleen, liver, lungs, and bone marrow. In rare cases, it may also accumulate in the brain. Risk Factors A risk factor is something that increases your chances of getting a disease or condition. The primary risk factor for Gaucher disease is having family members with the disease. Symptoms The three types of Gaucher disease vary in the onset and severity of symptoms. In general, the later the onset of symptoms, the less likely that symptoms will be severe. Type I symptoms may include: Enlargement of the spleen or liver Fatigue due to anemia "Erlenmeyer flask deformity," which is deformity of the thigh bones Compression of the lungs Slow or stunted growth in children Bone and joint problems Blood abnormalities Intestinal problems Poor lung and brain function Seizures In type II, neurologic symptoms appear within the first few months of life, and are fatal by the age of three.

89. Global Warming Medical Research Polymyositis Medical Service Gauchers Disease Nu healthy center colorado control medical errors unhealthy city county department health oklahoma health condition leprosy see hansens disease diseases computer http://www.healthcondition.us/calculator-recipe-health-care-provider_329430.html

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90. BrainTalk Communities - Neurology Support Groups test, ^^MoonDog^-^, 0, 11-22-2001 0451 PM. NYU Study To Examine Investigational Therapy For Gaucher disease, Tim, 0, 07-23-2001 1042 AM. I NEED YOUR HELP! http://neuro-mancer.mgh.harvard.edu/cgi-bin/forumdisplay.cgi?action=topics&forum

91. GAUCHER DISEASE : Contact A Family - For Families With Disabled Children: Inform printer friendly, GAUCHER disease, Gaucher disease is a lysosomal storage disorder that is caused by an inherited deficiency of the enzyme glucocerebrosidase. http://www.cafamily.org.uk/Direct/g15.html

printer friendly GAUCHER DISEASE home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Gaucher disease is a lysosomal storage disorder that is caused by an inherited deficiency of the enzyme glucocerebrosidase. In Type 1 symptoms may appear at any time from infancy to old age. The disease is associated with anaemia (anaemia - US), fatigue, bruising and an increased tendency to bleed. An enlarged spleen and liver with abdominal distension may also occur as well as bone pain, fractures and skeletal degeneration. In the neuropathic forms of the condition (Types 2 and 3) involvement of the central nervous system is seen. Inheritance patterns Autosomal recessive inheritance. The most common form (Type 1) affects under 1 in 100,000 of the general population but about 1 in 1,000 of Ashkenazi Jews. Not all these will show symptoms. Prenatal diagnosis Chorionic villus sampling at ten to twelve weeks allows the condition to be diagnosed in the early stages of pregnancy. Medical text last updated December 2001 by Dr A Velodi, Consultant Paediatrician and Honorary Senior Lecturer, Metabolic Unit, Great Ormond Street Hospital, London, UK.

92. National And International Gaucher Disease Patient Organizations List National and International Gaucher disease Patient Organizations List. http://gaucher.mgh.harvard.edu/orglist.html

National and International Gaucher Disease Patient Organizations List Argentina Australia Brazil Canada ... USA Argentina Asociacion Gaucher Argentina Leopoldo Marechal 1314 Dto.2 1414 Buenos Aires, Argentina Telephone:54-1-854-5196 E-Mail: silviag@mbox.servicenet.com.ar Australia Gaucher Association of Australia 6 Logan Street Capalaba 4157 Queensland, Australia 61-7-245-1848 Brazil Associacao Brasileira dos Portadores da Doenca de Gaucher Rua Nilo Pecanha, 155 SL Rio de Janeiro, RJ Brazil Tel: 55-21-220-8633 Canada National Gaucher Foundation of Canada c/o Mark Freedman Harris, Sheaffer Barristers and Solicitors, Yonge Corporate Center, 4100 Yonge St., Suite 310, North York M2P 285, Ontario, Canada 416-250-2850 416-250-5300 (fax) France Caincre les Maladies Lysosomales, 9, place du 19 mars 1962, 91035 Evry, France 33-60-91-75-00 33-69-36-93-50 (fax) Germany Gaucher Gesellschaft Deutschland, An der Ausschacht 9, 59556 Lippstadt, Germany 49-2941-21939 Israel Israeli Gaucher Patient Association, Century Towers Iben Gvirol 124, Tel Aviv 62038, Israel 972-3-522-6482 972-3-527-2166 (fax) Italy Associazione Italiana Gaucher, Piazza della Constituzione, 7, 50129 Florence, Italy 39-55-483744

93. Gaucher_Disease Chatroom Click HERE to log on. _ http://neuro-mancer.mgh.harvard.edu/echat42/Gaucher_Disease

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94. ¿ò¶Ç¯e¯f¿Ô¸ßªA°Èµ¡¤f The summary for this Chinese (Traditional) page contains characters that cannot be correctly displayed in this language/character set. http://www.genetic-counseling.com.tw/datebase/Gaucher's_disease-10.16.htm

¥»¯¸¦¨¥ß©v¦® °ê¤º¿ò¶Ç¯e¯f¶EÂ_¶µ¥Ø ¿ò¶Ç¯e¯f¸ê®Æ®w ¿ò¶Ç¯e¯f¶EÂ_Âà¶EªA°È ... ½u¤W¿Ô¸ß ªù¶E¿Ô¸ß¬ö¿ý ±ÄÀˤèªk ¹êÅç¤èªk µ²ªG§PŪ ¬Ûö·s»D ºô¯¸ºûÅ@¡G ³¢´f¬ ³Ì«á§ó·s¤é´Á °ª³·¤ó¯g Gaucher's disease ¼¶¤åªÌ¡G ³¢´f¬ ¤é´Á¡G ¶À²»³ÕÂå®v ¤é´Á¡G ¨S¦³¤°»ò¯e¯f ¬O·R©Ò¤£¯àªv¡ªº¡C °_·½¡G ¥ÑGaucher©ó1882¦~­º¦¸´y­z¤@¦ì¦³¨xŦ¤ÎµÊŦ¸~¤jªº32·³¯f¨Ò¡A¦Ó³Q©R¦W¬°Gaucher's disease°ª³·¤ó¯g¡C ¯f¦]¡G µo¥Í²v¡G ¥Ø«e¥xÆWªº²±¦æ²v¤£©ú¡F¥i¯àµo¥Í¦b¥ô¦ó¦a°Ï©Î±Ú¸s¡A²Ä¤@«¬°ª³·¤ó¯g¦bªF¼ÚAshkenaziµS¤Ó¤H¤¤¬Û·í±`¨£¡Aµo¥Í²v°ª¹F343¡G100,000¡C ¿ò¶Ç¼Ò¦¡¡G ¬°¤@Åé¬V¦âÅéÁô©Ê¿ò¶Ç¡A°ò¦]¦ì©ó1q21¡A¤÷¥À¿ËÂù¤è¦U±a¦³¦¹¤@¯Ê³´°ò¦]¡A¤£¤À©Ê§O¡A¨C¤@­L¬Ò¦³1/4¾÷²v¥i¿ò¶Ç¦¹¯g¡C ¯S¼x ²Ä¤G«¬ («æ©Ê¯«¸g¤¸¯fÅÜ«¬) ²Ä¤T«¬ (ºC©Ê¯«¸g¤¸¯fÅÜ«¬) µo¯f´Á «Äµ£´Á/«C¬K´Á µÊŦ¸~¤j ¨xŦ¸~¤j °©ÀY¯e¯f°©ÀY¦M¶H ­ìµo©Ê¤¤¼Ï¯«¸g¨t²Î¯e¯f µL ¦s¬¡´Á µo¥Í²v ´¼¤O ¨ä¯f±¡ÄY­«¡A¤j³¡¥÷¨â·³«e§Y¤Ô§é¡C µo¯f¸û¿ð¡A´¼¯àº¥°h¡B¥¢¥h¹B°Ê¯à¤O¡C ªvÀø¡G (»¯À¨ú¥NÀøªk) (ö¸`¸m´«³N) (°ò¦]Àøªk) ¶EÂ_¡G ¦¹¯g¤w§¹¦¨¤HÅé²Ä¤@¸¹¬V¦âÅé¤Wªº°ò¦]©w§Ç¡A¥Ø«e°ê¤º¤w¦³´X®aÂå¾Ç¤¤¤ß¥i¦æ°ò¦]¯fÅÜÀË´ú¡A¥iÂǥѤÀ¤l¥Íª«¾Çªº¤èªk¶i¦æ¡F»¯À¬¡©Ê´ú©w»P°ò¦]¯fÅܤÀªR¥iÀ³¥Î©ó²£«e¿ò¶ÇÀˬd¡A¥HÁקK®a±Ú¤¤¿ò¶Ç¯e¯fªº¦Aµo¡C ¹w«á¡G ­Y¬°²Ä¤@«¬¥Bµo¯f´Á¸û¦­ªº±wªÌ¹w«á¨¤£¦n¡A¦]¨äªÍŦ¡B¨xŦ¤Î°©ÀY¬Ò¤w¨üÄY­«¨ì¼vÅT¡F¦Ó²Ä¤@«¬µo¯f´Á¸û±ßªº±wªÌ¨ä¥Í©R´Á«h»P¤@¯ë¤HµL²§¡C²Ä¤G ¡B ¤T«¬¤§¹w«á¤]¤£¦n¡C ¬Ûö¹ÎÅé¡G ¬ü°ê¤Ç¯÷³ù¤j¾ÇÂå¾Ç¤¤¤ßªº¡u°ª³·¤ó¯g¶EÂ_»PªvÀø¡v­pµe http://www.pitt.edu/~geneorb

95. Kluwer Online Internet Publishing System - Journal Of Inherited Metabolic Diseas http://dx.doi.org/10.1023/A:1025902113005

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