61. National Gaucher Foundation - Prevalence Of Gaucher Disease Prevalence and Transmission of Gaucher disease. Gaucher disease is an inborn error of metabolism. Inborn metabolic disorders are http://www.gaucherdisease.org/prevalence.htm

Home Meetings and Events What is Gaucher Disease ... Women Golf Pins Prevalence and Transmission of Gaucher Disease Gaucher Disease is an inborn error of metabolism . Inborn metabolic disorders are those conditions resulting from a specific malfunction in one or more of the body's many individual chemical processes. Although there are at least 34 mutations known to cause Gaucher Disease, there are 4 genetic mutations which account for 95% of the Gaucher Disease in the Ashkenazi Jewish population, and 50% of the Gaucher Disease in the general population. These can be identified through a blood test. The carrier rate for the mutations which cause Gaucher Disease may be as high as 1 in 14 Jewish people of Eastern European ancestry, and 1 in 100 of the general population. Gaucher Disease is transmitted as an autosomal recessive; that is, it occurs equally among males and females , and both parents must carry the mutation for the child to have the disease. If both parents are carriers, then there is a 1 in 4 chance that the child will have Gaucher Disease, a 1 in 2 chance that the child will not have the disease but will be a carrier, and a 1 in 4 chance that the child will neither have the disease nor be a carrier. 2004 Marks the National Gaucher Foundation's 20th Anniversary Neat Gift Idea - Little People Pins and Women Golf Pins ...and help raise funds for education and awareness of Gaucher Disease Contribute to the NGF N ational Gaucher Foundation 5410 Edson Lane, Suite 260

62. National Gaucher Foundation - Testing For Gaucher Disease Testing for Gaucher disease. Gaucher disease can be detected through a simple blood test. Carrier Testing Approximately 1 in 60,000 people have Gaucher disease. http://www.gaucherdisease.org/testing.htm

Home Meetings and Events What is Gaucher Disease ... Women Golf Pins Testing for Gaucher Disease Gaucher Disease can be detected through a simple blood test . There are Gaucher specialists throughout the country who can diagnose, evaluate and recommend proper treatment. The testing process can be done at a hospital, Gaucher specialist’s office, or through your family physician. Your physician can draw blood that would then be sent to a specific laboratory for testing. For more information on the testing process adn for testing kit information, visit the University of Pittsburgh's Generin Diagnostics website.. An enzyme assay test measures glucocerebrosidase (GC) activity in leukocytes, fibroblasts, or urine. Individuals who are affected with Gaucher Disease will have very low levels of enzyme activity. There are four common mutations of the GC gene: N370S, L444P, 84gg and IVS2[+1]. DNA analysis for these four mutations detects 90% to 95% of the mutations associated with Gaucher Disease in the Ashkenazi Jewish population, and 50% to 75% of the associated mutations in the general population. Neither disease type nor severity of disease is defined by enzyme assay. DNA analysis is used in combination with the enzyme assay test to diagnose Gaucher Disease and is helpful in defining the subtype. Carrier Testing Approximately 1 in 60,000 people have Gaucher Disease. However, among Jews of Eastern European (Ashkenazi) descent, one in 450 people will have the disorder, and the carrier rate is approximately 1 in 14.

63. Health Library - Gaucher disease. Synonyms liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

64. Gaucher Disease,Infantile Gaucher Disease,Acute Cerebral Gaucher Disease,Acid Be Gaucher disease,Infantile Gaucher disease,Acute Cerebral Gaucher disease,Acid Betaglucosidase Deficiency,Cerebroside Lipidosis,Cerebrosidosis,Familial Splenic http://www.icomm.ca/geneinfo/gaucher.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Gaucher Disease (as defined by the National Organization for Rare Disorders also known as: Infantile Gaucher Disease Acute Cerebral Gaucher Disease Acid Beta-glucosidase Deficiency Cerebroside Lipidosis Cerebrosidosis Familial Splenic Anemia Gaucher-Schlagenhaufer Glucocerebrosidase deficiency Glucocerebrosidosis Glucosyl Ceramide Lipidosis Histiocytosis, lipid, kerasin type Norrbottnian Gaucher Disease Disorder Subdivisions Type I Gaucher Disease Non-Neuronopathic Chronic, Adult Gaucher Disease Noncerebral Juvenile Gaucher Disease Type II Gaucher Disease Neuronopathic Acute Gaucher Disease Type III Gaucher Disease Subacute Neuronopathic, Juvenile Gaucher Disease Gaucher disease is the most common of the lipid storage diseases (which include Tay-Sachs, Fabry's, and Neimann-Pick diseases). It is caused by a deficiency of the enzyme glucocerebrosidase, resulting in the accumulation of toxic quantities of the glycolipid glucocerebroside throughout the body.

65. Gaucher Disease Gaucher disease. spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord12

66. Health Library - Gaucher disease. Important It is possible that the main title of the report Gaucher disease is not the name you expected. Please http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

67. Gaucher's Disease Metabolism Index. http://www.fpnotebook.com/END91.htm

Home About Links Index ... Editor's Choice document.write(code); Advertisement Endocrinology Metabolism Assorted Pages Inborn Errors of Metabolism Disorders of Energy Metabolism Lysosomal storage disease Inborn Error of Small Molecule Metabolism ... Tay-Sachs Disease Gaucher's Disease Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease General Dermatology Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory Metabolism Neonatology Obesity Obstetrics Parathyroid Disease Pediatrics Pharmacology Pituitary Disease Prevention Radiology Nephrology Sex Sports Medicine Surgery Symptom Evaluation Thyroid Disease Page Metabolism Index Background Class Energy Class Lysosomal Storage Class Small Molecules Fructose Intolerance Galactosemia Gauchers Disease Homocystinuria Tay-Sachs See Also Lysosomal storage disease Gangliosidosis Pathophysiology Inherited Inborn error of metabolism Disturbed Cerebroside metabolism Symptoms Abdominal heavy feeling Bone pain (at lesion sites) Signs Progressive Abdominal distention Splenomegaly Hepatomegaly Conjunctiva with brown pigmentation Skin with brown to yellow discoloration

68. Your Health - 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.aurorahealthcare.org/yourhealth/healthgate/getcontent.asp?URLhealthga

69. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Gaucher Dise Ashkenazi Disorders Mendelian. Gaucher disease. Diagnosis By measurement of betaglucosidase in the blood or by testing of Gaucher disease gene. http://www.jewishgeneticscenter.org/what/ashkenazi/gaucher.asp

Ashkenazi Disorders: Mendelian Gaucher Disease This disease is caused by the deficiency of an enzyme called beta-glucosidase. This enzyme is involved in breaking down a specific fatty substance in the body. Lack of this enzyme causes this fatty substance to accumulate in the bone marrow, spleen, liver, and other parts of the body, and can result in anemia, low platelet count and easy bruising and bleeding, bone pain, and bone fractures, even with little trauma. There are three forms of the disorder. The brain can be affected in some forms of the disorder. However, in type I, the form most common in the Jewish population, the brain is not affected. Treatment is available through replacement of the deficient enzyme. With treatment, individuals have a normal lifespan. Disease frequency: About 1 in 1,000 in Jews. Carrier frequency: As high as 1 in 10 in Jewish population. Diagnosis: By measurement of beta-glucosidase in the blood or by testing of Gaucher disease gene. Inheritance: Autosomal Recessive Carrier testing: Available by genetic testing of Gaucher disease gene. Testing can identify approximately 95% of carriers.

70. Chicago Center For Jewish Genetics Disorders - Links - Jewish Genetic Disorders Gaucher disease National Gaucher Foundation www.gaucherdisease.org. Mount Sinai Comprehensive Gaucher disease Treatment Center http//www.mssm.edu/gaucher/. http://www.jewishgeneticscenter.org/links/jewish.asp

Jewish Genetic Disorders Canavan: Canavan Foundation http://www.canavanfoundation.org/ Canavan Research Illinois http://www.canavanresearch.org/ Canavan Research Foundation www.canavan.org United Leukodystrophy Foundation Contains information on Canavan Disease http://www.ulf.org/ Dystonia: Dystonia Medical Research Foundation http://www.dystonia-foundation.org/ http://www.dystonia-parkinsons.org Care 4 Dystonia http://www.care4dystonia.org/ Dysautonomia: Dysautonomia Foundation www.familialdysautonomia.org FD Village/FD Hope http://www.fdvillage.org/ National Dysautonomia Research Foundation www.ndrf.org Fanconi Anemia: Fanconi Anemia Research Fund, Inc. www.fanconi.org Fanconi Anemia UK http://www.fanconi-anaemia.co.uk/ Fanconi Canada http://fanconicanada.org/ Hope for Henry http://www.hsg.org/ Gaucher Disease: National Gaucher Foundation www.gaucherdisease.org Gauchers Association UK http://www.gaucher.org.uk Gaucherwest.com: Tower Hematology Oncology - Comprehensive Gaucher Treatment Center http://www.gaucherwest.com Mount Sinai Comprehensive Gaucher Disease Treatment Center http://www.mssm.edu/gaucher/

71. Gaucher's Disease - Patient UK Gaucher s disease Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information. Gaucher s disease. http://www.patient.co.uk/gauchers_disease.htm

Gaucher's Disease UK sources of information and / or support Gauchers Association The Gauchers Association was formed in 1991 to meet the needs of those suffering from Gaucher disease. Further sources / More detailed information Some non-UK sites The following list popular non-UK health information sites, mainly from the US. They have not been checked to see if Gaucher's disease is included but these large sites are comprehensive. Non-UK disease / illness sites Non-UK self-help / support group sites Evidence Based Medicine For sites and information on Evidence Based Medicine. Searching Medline For information on Medline and how it is used to find detailed medical and health information. Related pages Self help groups Contact a Family Gaucher's Association mencap (for learning disabilities) Top of Page ... Find me a...

72. Gaucher Disease Center for Diagnosis and Treatment of Gaucher disease. Director Mark Levin, MD. (718) 2406147. Gaucher disease The Jewish Community at Risk. http://www.brookdale.edu/html/gaucher_disease.html

General Medicine Cardiology Endocrinology Gastroenterology ... Hematology Gaucher Disease Infectious Diseases Nephrology Pulmonary Medicine Rheumatology Center for Diagnosis and Treatment of Gaucher Disease Director: Mark Levin, MD. Gaucher Disease: The Jewish Community at Risk Genny, a 73-year-old Jewish woman from Russia, came to Dr. Mark Levin with an enlarged liver and spleen, pain in her back and joints, and advanced anemia. Dr. Levin, Brookdale's Director of the new Center for Diagnosis and Treatment of Gaucher Disease and Co-Director of the Division of Medical Oncology, diagnosed Gaucher Disease, a rare genetic disorder that targets Ashkenazi Jews, natives of Central and Eastern Europe. Mark Levin, MD Director of Treatment of Gaucher Disease Two thirds of the victims of Gaucher (pronounced "go-shay") are Ashkenazi Jews. The disease strikes one in every 500 Ashkenazi Jews and is carried by one in every 10. New York City is estimated to have one-fourth of the Gaucher population of the country. Among the general population, only about one in every 20,000 to 40,000 has Gaucher Disease. Brookdale's Expertise "It is believed that for every known case of Gaucher, two cases remain undiagnosed," says Dr. Levin. Individuals of Jewish ancestry, with or without a family history, are candidates for testing. Unless symptoms appear, screenings are recommended only for those 18 and older. If you have a family history or symptoms, you can receive an evaluation and a simple and free blood test at The Brookdale University Hospital and Medical Center, either on our main campus at Linden Boulevard and Rockaway Parkway, or at our satellite office in Sheepshead Bay at 1616 Voorhies Avenue.

73. Gaucher's Disease Definition Of Gaucher's Disease. What Is Gaucher's Disease? Me Definition of Gaucher s disease in the Dictionary and Thesaurus. Provides examples from classic literature, search by definition of Gaucher s disease. http://www.thefreedictionary.com/Gaucher's disease

Dictionaries: General Computing Medical Legal Encyclopedia Gaucher's disease Word: Word Starts with Ends with Definition Noun Gaucher's disease - a rare chronic disorder of lipid metabolism of genetic origin monogenic disease monogenic disorder - an inherited disease controlled by a single pair of genes lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body Legend: Synonyms Related Words Antonyms Some words with "Gaucher's disease" in the definition: abetalipoproteinemia acanthocytosis acantholysis acanthosis ... monogenic disorder Previous General Dictionary Browser Next Gathering peat gathering place Gathic ... gaudiness Full Dictionary Browser Gattman (enc.) Gattman, Mississippi (enc.) Gatwick (enc.) Gatwick Airport (enc.) Gatwick Express (enc.) Gatwick International Airport (enc.) GAU-12 (enc.) GAU-12 Equaliser (enc.) GAU-12 Equalizer (enc.) GAU-12/U Equaliser (enc.) GAU-12/U Equalizer (enc.) GAU-8 (enc.) GAU-8 Avenger (enc.) GAU-8/A Avenger (enc.) Gauche Gauche (enc.) Gauche caviar (enc.) Gauche Socialiste (enc.)

74. NORD - National Organization For Rare Disorders, Inc. Gaucher disease. To purchase fulltext report ($7.50) The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gaucher Disea

75. 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.somersetmedicalcenter.com/1430.cfm

Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries Gaucher Disease Pronounced: go-shay disease by Michelle Badash, MS Definition Causes Risk Factors ... Organizations 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 – the most common type. It is found widely in people of Ashkenazi Jewish descent. Type II – very rare, but rapidly progressive form of Gaucher disease. Type III – very rare form. Most cases have been found in Sweden, Scandinavia, and Japan. 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.

76. Gaucher Disease Guidelines for MRI Assessment of Gaucher disease in Adults. The Gaucher disease Advisory Committee (GDAC) has asked that the following http://www.health.gov.au/pbs/healthpro/supply/mriguide.htm

WHAT'S NEW GENERAL INFORMATION PUBLICATIONS CONTACT US ... USEFUL LINKS Guidelines for MRI Assessment of Gaucher Disease in Adults. The Gaucher Disease Advisory Committee (GDAC) has asked that the following information be forwarded to treating doctors of Gaucher patients to assist in the assessment of these patients by radiologists following an MRI. In order to assess marrow changes in patients with Type 1 Gaucher disease, who are receiving enzyme replacement therapy, serial MRI's are requested at annual intervals. The aim is to compare features with the previous images to detect changes, which might suggest clearing of the accumulated metabolite from bone marrow cells during the course of therapy. The GDAC has arranged for central reading of MR images in addition to primary reading by the radiologist performing the MRI study. 'Guidelines for MRI assessment of Gaucher Disease in Adults" written by Patsy Robertson are attached. It is important that the MR examinations are conducted in a standard fashion so that serial central reading will provide objective information for assessing response to enzyme replacement therapy. Patsy Robertson, February 2003

77. Healthwise Topic Gaucher disease, Back to previous page. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. http://www.stlukes-sf.org/health/healthinfo/index.cfm?section=healthinfo&page=ar

78. Health Library - Gaucher disease. Synonyms liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. http://12.42.224.152/Library/HealthGuide/IllnessConditions/topic.asp?hwid=nord12

79. Health Topics Gaucher disease. Gaucher disease is a rare, inherited disease that causes the abnormal storage of fatty substances. There are three types of Gaucher disease http://www.legalpointer.com/healthtopics.php?&A=&I=&article=23624

80. GAUCHER DISEASE - Site Map - UK Shopping Directory - UK Shops GAUCHER disease Site Map UK Shopping Online, Thousands of Brand Name Products at Great Prices at UK Shops Secure UK Shops. GAUCHER disease. http://www.ishop.co.uk/site-map/ga/gaucher_disease/index.shtml

home search customer service -UK Shopping Portal Online - Automotive Banking Books Business Services ... www.ishop.co.uk Popular Searches for GAUCHER DISEASE Gaucher Disease Gaucher disease: Information for patients, relatives, doctors and researchers from an independent charity. ... GAUCHER DISEASE. Gaucher disease is an ... disease, Gaucher's disease, Gauchers disease,Gaucher disease, Gaucher's disease, Gauchers disease, Gaucher disease ... http://www.gaucher.org.uk/ National Gaucher Foundation Home Page ... http://www.bham.ac.uk/arif/gaucher.htm Continue Searching : Further Associated Searched keywords relating to GAUCHER DISEASE Please click here to return to the main site map index. GAUCHER DISEASE Shopping online for gaucher disease or just looking for more information about gaucher disease? Here at www.ishop.co.uk we aim to provide the most comprehensive resource of sites selling gaucher disease and links to online resources such as search, information and price comparison tools that should quickly ensure you find sites containing information about gaucher disease or directly selling gaucher disease or releted products/services. Whilst we do not sell gaucher disease directly the independent shopping and information links provided will ensure that you find the web sites that do sell gaucher disease quickly, simply and at the best prices available ensuring you get the best deals online.

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