81. Caremark.com taysachs disease is a genetic disorder caused by a missing enzyme that results in the In tay-sachs disease, the enzyme necessary for removing excess http://www.caremark.com/wps/portal/_s.155/5522/.cmd/ad/.pm/-/.c/1703/.ce/5535/.p

82. Science Museum | Your Genes | Tay-Sachs Disease taysachs disease is a rare and extremely severe genetic condition that affects A baby with tay-sachs disease appears normal at birth, but development http://www.sciencemuseum.org.uk/exhibitions/genes/230.asp

Home Your genes Genes and inheritance Genes and families ... Recessive inheritance Tay-Sachs disease Tay-Sachs disease is a rare and extremely severe genetic condition that affects the brain and nerves. A baby with Tay-Sachs disease appears normal at birth, but development starts to slow down at about 6 months of age. Gradually, the child becomes blind, deaf and paralysed. Children with Tay-Sachs disease usually die before the age of five. There is no cure for this devastating disorder, and no effective treatment. The retina in the eye of a child with Tay-Sachs disease showing the characteristic 'cherry-red' spot. Jewish Care (www.jewishcare.org) Understanding Tay-Sachs disease How is Tay-Sachs disease inherited? next section: Cystic fibrosis ... Shop

83. The DRM WebWatcher: Tay-Sachs Disease This section of The DRM WebWatcher describes the best online resources about Tay Sachs disese. http://www.disabilityresources.org/TAY.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher (Subjects) Tay-Sachs Disease Updated 5/2004 A B C D ... About/Hint/Link Tay-Sachs disease (TSD) is a fatal genetic disorder in children that causes progressive destruction of the central nervous system. For information about this fatal genetic disorder, check these sites. Fact Sheets NINDS Tay-Sachs Disease Information Page (National Institute of Neurological Disorders and Stroke) Tay Sachs Disease (National Organization for Rare Disorders) Tay-Sachs Disease Online Mendelian Inheritance In Man) Websites Late-Onset Tay-Sachs Foundation An excellent resource for information about this newly recognized and relatively rare form of Tay-Sachs, this website offers medical information from Massachusetts General Hospital and back issues of the Foundation's newsletter. The Association's website includes fact sheets about Tay-Sachs Disease and numerous allied diseases (Late-Onset Tay-Sachs Disease, Sandhoff Disease, Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Canavan Disease), as well as information about the organization, links, and suggested readings. Related Subjects Rare Disorders Resources in your state (c) 1997-2005 Disability Resources, inc.

84. Arch Neurol -- Tay-Sachs Disease, September 2004, Fernandes Filho And Shapiro 61 Collection Email Alerts. tay-sachs disease. Jose Americo Fernandes Filho, MD ; Barbara E. Shapiro, MD, PhD. Arch Neurol. 2004;611466-1468. http://archneur.ama-assn.org/cgi/content/extract/61/9/1466

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 61 No. 9, September 2004 Featured Link E-mail Alerts History of Neurology: Seminal Citations Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Fernandes Filho JA Shapiro BE Contact me when this article is cited Topic Collections History of Medicine Neurology, Other Nutritional and Metabolic Disorders Nutrition/ Malnutrition ... Topic Collection Alerts Tay-Sachs Disease Jose Americo Fernandes Filho, MD Barbara E. Shapiro, MD, PhD Arch Neurol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. INTRODUCTION Tay-Sachs disease is an autosomal recessive disease caused by a deficiency of -hexosaminidase A, the lysosomal enzyme that

85. Tay-Sachs Disease : Virtual Hospital - Health Topics A-Z taysachs disease. All Topics Adult Patient Topics Adult Provider Topics Pediatric Patient Topics Pediatric Provider Topics. For Pediatric Providers http://www.vh.org/navigation/vh/topics/tay-sachs_disease.html

Health Topics A-Z Tay-Sachs Disease All Topics Adult Patient Topics Adult Provider Topics Pediatric Patient Topics ... Pediatric Provider Topics For Pediatric Providers Clinical Genetics: A Self-Study Guide for Health Care Providers Virtual Hospital Home Virtual Children's Hospital Home Site Map ... University of Iowa http://www.vh.org/navigation/vh/topics/tay-sachs_disease.html

86. Tay-Sachs Disease - YourDictionary.com - American Heritage Dictionary Search Mamma.com for taysachs disease . TYPE IN YOUR WORD CLICK GO! Search. Normal, Definitions, Short defs. (Pronunciation Key) http://www.yourdictionary.com/ahd/t/t0067500.html

Search Mamma.com for "Tay-Sachs disease" Search: Normal Definitions Short defs (Pronunciation Key) Tay-Sachs disease Listen: t s ks n. A hereditary disease that affects young children almost exclusively of eastern European Jewish descent, in which an enzyme deficiency leads to the accumulation of gangliosides in the brain and nerve tissue, resulting in mental retardation, convulsions, blindness, and, ultimately, death. [After Warren Tay (1843-1927), British physician, and Bernard Sachs (1858-1944), American neurologist.] Back to Search Back The American Heritage Dictionary of the English Language, Fourth Edition

87. General Term: Tay-Sachs Disease taysachs disease results in the deterioration of the nervous system, usually resulting in death before the patient reaches age 5. http://www.meta-library.net/biogloss/tays-body.html

Tay-Sachs Disease Tay-Sachs disease results in the deterioration of the nervous system, usually resulting in death before the patient reaches age 5. It is caused by the absence of an enzyme which breaks down lipids, resulting in a lethal accumulation in cells. There is no treatment, but potential parents can be identified as carriers for the disease with a blood test. Related Topics: Genetics Contributed by: CTNS Search for Tay-Sachs Disease Full Glossary Index To return to the previous topic, click on your browser's 'Back' button.

88. Health Care Information Resources Tay-Sachs Disease Links taysachs disease - National Tay-Sachs and Allied Diseases Association a fatal genetic disorder in children; tay-sachs disease - National Tay-Sachs and http://www-hsl.mcmaster.ca/tomflem/taysachs.html

The address of this page is: http://hsl.mcmaster.ca/tomflem/taysachs.html Tay-Sachs Disease Links For more information, see: Genetic conditions , also in the Illness section of this resource. Tay-Sachs disease - National Tay-Sachs and Allied Diseases Association a fatal genetic disorder in children Tay-Sachs disease - National Tay-Sachs and Allied Diseases of Ontario rare genetic diseases that affect children Tay-Sachs disease - Tay-Sachs Disease info from the National Foundation for Jewish Genetic Diseases, Inc. Tay-Sachs disease - Tay-Sachs Disease Information Page from the U.S. NINDS Tay-Sachs disease - Tay-Sachs Disease Your Genes Your Health Please read

89. Gdbwww.gdb.org/omim/omimx?272800 taysachs disease life insurance agent Resources from Life tay-sachs disease life insurance agent Life Insurance resources and quotes from local agents on whole and term life insurance policies. http://gdbwww.gdb.org/omim/omimx?272800

90. Tay-Sachs Disease Term Life Quote Resources From Life Insurance .Net taysachs disease term life quote Life Insurance resources and quotes from local agents on whole and term life insurance policies. http://www.lifeinsurance.net/LifeInsurance/Tay-Sachs_disease__term_life_quote.ht

Home Site Map Education Resources Life Insurance Articles Insurance Carriers State Regulators Related Links ... Contact Us Tay-Sachs disease term life quote Life insurance policies are uniquely tailored to your actual life situation. Your specific health conditions will affect how various companies price your policy or even whether they will take you. Don't let a cookie cutter agency take you to the wrong company. We understand your situation and can get you a great solution your insurance needs. We want you to make the most informed decision possible when planning for your family's financial security. Paying low premiums should not be your only consideration when shopping for insurance. After all, a cheap policy may not adequately protect your family over the long-haul. Buying life insurance, disability insurance, long term care insurance or annuities requires serious decisions and thoughtful planning. Consulting a licensed insurance professional can help ease the burden and provide peace of mind. Life Insurance.Net features hundreds of independent insurance agents, providing accurate term life quotes and universal life quotes from hundreds of top insurance carriers.

91. Inborn Error Of Small Molecule Metabolism Endocrinology Metabolism TaySachs. tay-sachs disease Fructose Intolerance, Galactosemia, Gauchers Disease, Homocystinuria, Tay-Sachs http://www.fpnotebook.com/END94.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 Inborn Error of Small Molecule Metabolism Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Practice Management Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease Dermatology Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory General Metabolism Neurology 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 Inborn Errors of Metabolism Types Organic acid Defects Sugar Defects Galactosemia Hereditary Fructose Intolerance Amino acid Defects Phenylketonuria Maple syrup urine disease Tyrosinemia Tryptophanuria Hyperornithinemia Beta-alaninemia Homocystinuria Methionine malabsorption Search other websites for this topic

92. The Molecules Behind Tay-Sachs Disease The Molecules Behind taysachs disease how changes in a pair of proteins lead to the family of neurological disorders that includes tay-sachs disease. http://www.aps.anl.gov/News/APS_News/2004/20040116.htm

Advanced Photon Source A U.S. Department of Energy, Office of Science, Office of Basic Energy Sciences national synchrotron x-ray research facility About the APS News Science User Info ... Advanced Photon Source anlBreadCrumbs("http://webdev.ipd.anl.gov:8159/dstasiak"); The Molecules Behind Tay-Sachs Disease Researchers using the BioCARS sector 14 beamline at the APS have determined how changes in a pair of proteins lead to the family of neurological disorders that includes Tay-Sachs disease. They solved the three-dimensional structure of one protein essential to Tay-Sachs and modeled the structure of a second key protein based on the first. The results help explain why different mutations lead to different forms of the same class of neurological disorder, and may help in developing treatments against them. Tay-Sachs is caused by an inherited deficiency of the enzyme Hex A, which removes a sugar residue from fatty molecules found in brain cells. Without it, fat builds up in the cells and kills them in a still mysterious way. Three genes must interact to remove the sugar properly: HEXA and HEXB, which produce the a- and b-subunits of Hex A, respectively; and GM2A, whose protein product, Gm2A, activates Hex A. Mutations that significantly reduce the activity of these genes can cause one of several related disorders, including Tay-Sachs and Sandhoff disease. One in 35 Ashkenazi Jews carries the mutation that causes Tay-Sachs, and 1 in 300 individuals in general carries it. Understanding the structures of the proteins involved might enable researchers to design drugs to activate or replace them. However, researchers had, to date, only determined the structure of the Gm2A protein.

93. Tay-Sachs Disease taysachs disease (TSD), a fatal Jewish Genetic Disorder that causes progressive destruction of the central nervous system in young children, http://judaism.about.com/od/health/p/taysachs.htm

var zLb=9; zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Judaism World Jewry Today Health Tay-Sachs Disease Judaism Essentials Intro to Judaism Jewish Life Events ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Judaism newsletter! See Online Courses Search Judaism Stay up to date! Compare Prices Email to a friend ... Print this page About Jewish Genetic Disorders About Judaism: Jewish Genetic Diseases About Judaism: Health and Jewish Disorders About Rare Diseases: Sorry, You Two Have No Future Together About Tay-Sachs About Healthcare: Tay-Sachs Elsewhere on the Web National Tay-Sachs and Allied Diseases Assocation: Tay-Sachs March of Dimes: Tay-Sachs Fact Sheet Most Popular Hebrew Names - Naming a Jewish Baby Hebrew Names for Boys - Naming a Jewish Baby Basic Beliefs of Judaism - Judaism 101 Hurricane Katrina Prayer ... Jewish Holiday Calendar - Jewish Holidays What's Hot Jewish Calendar - When Did It Start Free Jewish Coloring Pages Jewish Circumcision Ceremonies - The Ceremony Hurricane Katrina Prayer ... Rosh HaShana - Introduction to the Jewish New Year Related Topics Christianity - General Islam Europe for Visitors Genealogy ... 20th Century History Tay-Sachs Disease Profile From Lisa Katz Your Guide to Judaism FREE Newsletter.

94. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Search results for taysachs disease ALL-FIELDS are shown below. Include trials that are no longer Conditions Gangliosidoses; Gaucher Disease http://www.clinicaltrials.gov/search/term=Tay-Sachs Disease

Home Search Browse Resources ... About Search results for Tay-Sachs Disease [ALL-FIELDS] are shown below. Include trials that are no longer recruiting patients. 1 study was found. Recruiting Nervous System Degeneration in Glycosphingolipid Storage Disorders Conditions: Gangliosidoses; Gaucher Disease U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Privacy ... Freedom of Information Act

95. Tay-Sachs Disease taysachs disease is a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the http://healthlink.mcw.edu/article/921990328.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Tay-Sachs Disease Tay-Sachs disease is a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. A much rarer form of the disorder which occurs in patients in their twenties and early thirties is characterized by unsteadiness of gait and progressive neurological deterioration. Patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes. The condition is caused by insufficient activity of an enzyme called hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops.

96. Tay-Sachs Disease - National Institutes Of Health (NIH) taysachs disease - Health Information from National Institutes of Health (NIH) http://health.nih.gov/result.asp/1097

Home Health Information Browse Health Topics Alphabetically Tay-Sachs Disease Resources NHGRI NINDS NLM ... MedlinePlus NIH Institute and Center Resources National Human Genome Research Institute NHGRI Learning About Tay-Sachs Disease National Institute of Neurological Disorders and Stroke ... Tay-Sachs disease Related Topics: Brain and Nervous System Genetics/Birth Defects Up to Top Look up "Tay-Sachs Disease" in: MedlinePlus - health resources from US government agencies and other credible organizations Clinical Trials Database - research studies in which you can participate This page was last reviewed on Thursday, July 28, 2005. Career Opportunities Visitor Information FOIA Employee Information ... Search National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892 Department of Health and Human Services

97. National Tay-Sachs & Allied Diseases Association Of Delaware Valley (NTSAD-DV) taysachs Canavan Diseases, tay-sachs Canavan Diseases, National tay-sachs Allied Diseases Association of Delaware. can be prevented. http://www.tay-sachs.org/

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98. TAY SACHS DISEASE : Contact A Family - For Families With Disabled Children: Info Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/t15.html

printer friendly TAY SACHS DISEASE home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Tay Sachs is a life-threatening, progressive, genetic, lysosomal storage disease. Like all metabolic diseases there is a block because a catalyst or enzyme, necessary to perform essential chemical reactions in the body, is absent or malfunctioning. This defect results in the build up of chemicals on one side of the metabolic blockage and a deficiency of vital chemicals on the other. In this case the enzyme concerned is hexosaminidase A (hex-A). In its absence a lipid GM(2) ganglioside builds up abnormally in the body. The nerve cells in the brain are particularly affected. This process begins in the fetus during pregnancy. However the baby usually develops normally until about 6 months of age. The nervous system is progressively affected and the disease is usually fatal by the age of 3-5 years. Inheritance patterns Autosomal recessive inheritance. 1 in 25 Ashkenazi Jews and 1 in 250 of the general population are carriers of this disease. Carrier detection is available through genetic clinics. Prenatal diagnosis Chorionic villus sampling at ten to twelve weeks Medical text last updated July 2001. Approved by Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK.

99. Genes And You - Genetic Disorders - Tay Sachs Disease Tay Sachs disease is rare, neurodegenerative metabolic disorder caused by the The pattern of inheritance for Tay Sachs disease is autosomal recessive. http://www.gig.org.uk/genesandyou_taysachsdisease.htm

Genetic Interest Group - Working to benefit all people affected by genetic disorders Home Latest News Publications Press ... Site Map How helpful is our site? Comment: Your email: Add to mailing list: Who are you? Choose.. Student Teacher Medical Scientist/Research Member of GIG Patient Family Member Carer Press Other You are here: Education Genes and You Contents Tay Sachs Disease Tay Sachs Disease WHAT IS TAY SACHS DISEASE? Tay Sachs Disease is rare, neurodegenerative metabolic disorder caused by the absence of an enzyme called hexosaminidase A(hex-A). Without this enzyme, a fatty substance called GM(2) ganglioside builds up in the body, particularly in brain cells, and destroys the central nervous system of affected children do not normally live beyond the age of five. There are different forms of Tay Sachs - infantile, juvenile, late onset and variant forms. HOW IS TAY SACHS DISEASE PASSED ON? The pattern of inheritance for Tay Sachs Disease is autosomal recessive. A person who inherits one faulty gene for Tay Sachs will be a carrier. Carriers are usually unaffected but can pass the faulty gene onto any children they may have. If one or both parents is a carrier, there is a 50% (1 in 2) chance that each child of theirs will also be a carrier. A child who inherits two copies of the faulty gene (one from each parent) will have Tay Sachs Disease. If both parents are carriers, there is a 25% (1 in 4) chance of this happening.

100. Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease - Lu For example, the gene which causes Tay Sachs disease is found most commonly in Tay Sachs disease is a fatal disorder in children (usually by age 5) that http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/recessive.html

Genetics Clinic Metabolic/Biochemical Genetics Clinic Medical Geneticists Medical Genetics ... Packard Children’s Hospital Pediatrician Receives E. Mead Johnson Award For Pediatric Research Medical Genetics Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease Genes are inherited from our biological parents in specific ways. One of the basic patterns of inheritance of our genes is called autosomal recessive inheritance. What is autosomal recessive inheritance? Autosomal recessive inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected. "Recessive" means that two copies of the gene are necessary to have the trait, one inherited from the mother, and one from the father. A person who has only one recessive gene is said to be a "carrier" for the trait or disease, but they do not have any health problems from "carrying" one copy of the gene. Most people do not know they carry a recessive gene for a disease until they have a child with the disease. Once parents have had a child with a recessive trait or disease, there is a one out of four, or 25 percent chance, with each subsequent pregnancy, for another child to be born with the same trait or disorder. This means that there is a three out of four, or 75 percent chance, for another child to not have the trait or disease: The birth of a child with a recessive condition is often a total surprise to a family, since in most cases, there is no previous family history of a recessive condition. Many autosomal recessive conditions occur this way. As mentioned above, a person who "carries" one copy of an autosomal recessive gene is usually not aware they carry the gene, because they do not show any signs of the disease or condition. It is estimated that all people carry about five or more recessive genes that cause genetic diseases or conditions. Usually a person does not know they carry a recessive gene unless they have the disease in their family, or if they have had an affected child.

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