61. Preconception Healthcare Resource Center - Parents2B Homepage Family History and Genetic Issues Birth Defects Blood Disorders Cystic FibrosisGenetic Counseling Inherited Genetic Disorders taysachs disease Male Issues http://www.b4pregnancy.org/parents2b/topics.asp?catID=215

62. Free Tay-Sachs Disease Screening At San Jose State University FREE taysachs disease SCREENING AT. SAN JOSE STATE UNIVERSITY. SAN JOSE, Calif. Akiller of children, tay-sachs disease destroys the child's nervous system. http://www.sjsu.edu/news_and_info/releases/021197b.html

Thursday, February 13, 1997 Contact: Tanya Orman, (408) 924-1166 FREE TAY-SACHS DISEASE SCREENING AT SAN JOSE STATE UNIVERSITY SAN JOSE, Calif. A screening for Tay-Sachs disease, a deadly hereditary disorder, will be available free of charge to students, employees, and community members. The screening will be from 10 a.m. to 2 p.m. on Wednesday, Feb. 26, in the Student Union Umunhum Room and from 5 to 7 p.m. in the Joe West Hall Formal Lounge. The test also will be available from 10 a.m. to 2 p.m., on Thursday, Feb. 27, in the Student Union Umunhum Room. Pregnant women will not be tested; however they may call (415) 731-3437 to make special arrangements for the test. A killer of children, Tay-Sachs disease destroys the child's nervous system. The stricken child will appear normal until approximately 6-months-old and will rarely live past age 6. Anyone can carry the gene for Tay-Sachs. In the general population, one in 150 persons is believed to be a carrier. But in the Jewish population, the risk is greater: one in 30 persons is a carrier of the gene. Adults may not know they are carrying the Tay-Sachs gene. If both parents carry it, they have one chance in four that each pregnancy will result in a child with the disease.

63. Health Library - Tay-Sachs Disease taysachs disease. Self Help Clearinghouse. Late Onset Tay-Sachs Foundation.National network. Founded 1994.Support and education for http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29t

64. CCHS Clinical Digital Library Clinical Resources by Topic Metabolic Disorders. taysachs diseaseClinical Resources. Tay Sachs Disease List of documents. Pediatrics http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingoli

Clinical Resources by Topic: Metabolic Disorders Tay-Sachs Disease Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also: Genetic Testing Clinical Resources Mental Retardation Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Resources ... Tay Sachs Disease Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document GM2 Gangliosidoses: Access document Chapter 365: Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases Table of contents Selected Disorders of the Lower Motor Neuron: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):

65. CCHS Clinical Digital Library taysachs disease Patient/Family Resources. Miscellaneous. tay-sachs diseaseAccess document. Miscellaneous tay-sachs disease Patient/Family Resources http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphing

Patient/Family Resources by Topic: Metabolic Disorders Tay-Sachs Disease Patient/Family Resources Spanish Miscellaneous See also: Mental Retardation Patient/Family Resources Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources ... Tay-Sachs Disease Clinical Resources National Tay-Sachs and Allied Diseases Association: Homepage Profiles of Allied Diseases: List of documents Tay-Sachs Disease: Access document Late-Onset Tay-Sachs Disease: Access document March of Dimes: Homepage Facts Sheets: List of documents Tay-Sachs Disease: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Tay-Sachs Disease: Access document MEDLINE plus Medical Encyclopedia: Table of contents Tay-Sachs Disease: English Spanish Merck Manual Home Edition Table of contents Chapter 139. Disorders of Cholesterol and Other Fats: Access document Complete Home Medical Guide: Table of contents Brain, Nerve, and Muscle Disorders: Table of contents Disorders of the Central Nervous System: Access document Tay-Sachs Disease: Access document Spanish MEDLINE plus Medical Encyclopedia: Table of contents Tay-Sachs Disease: English Spanish Miscellaneous Tay-Sachs Disease Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Tay-Sachs Disease: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling:

66. Health Library - Tay-Sachs Disease taysachs disease. Self Help Clearinghouse. Late Onset Tay-Sachs Foundation.National network. Founded 1994.Support and education for http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29tay

67. Member Sign In Prenatal Screening for taysachs disease by LouisianaObstetriciansA Survey Study from Southern Medical Journal Lewis W. Hill, MD http://www.medscape.com/viewarticle/410836

If you are having trouble logging in: In order to use Medscape, your browser must be set to accept "cookies." To find out how to adjust your browser settings, please click here Log In Username Password Forgot your password? Not a Member? Register Now for free access to: MEDLINE (Optimized for Physicians) 200+ Free CME Courses 25 Medical Specialty Sites 100+ Medical Journals Conference Coverage Daily Medical News About Medscape Help WebMD Health

68. Health Library - Tay-Sachs Disease Saint Luke's Health System eLibrary. taysachs disease. Self HelpClearinghouse. Late Onset Tay-Sachs Foundation. National network. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

69. National Tay Sachs And Allied Diseases Of Ontario - Allied Disease List Lipidoses GM1 Gangliosidosis; taysachs disease Information on the classicalform of juvenile tay-sachs disease from NTSAD in the United States. http://www3.sympatico.ca/ntsad/diseases.html

NTSAD Ontario About the Allied Diseases Tay-Sachs and the allied diseases are known collectively as lysosomal storage diseases - characterized by a common biochemical defect; the inability of the body's cells to dispose of certain metabolic waste products. These waste products gradually accumulate in the cells of affected children, causing a variety of debilitating symptoms. NTSAD Ontario has also worked with families that have children affected with conditions other than those listed below, particularly mitocondrial disorders. The Rare Genetic Diseases in Children Resources site gives the best index we have seen to the allied diseases and other genetic diseases. Among its many resources is a chart of lysosomal diseases that outlines the enzyme defect, the substance stored and chromosome locations. The American National Insitute of Neurological Disorders and Stroke in Bethesda, Maryland aso has an extensive index of rare diseases Lipidoses: GM1 Gangliosidosis Tay-Sachs Disease Information on the classical form of juvenile Tay-Sachs disease from NTSAD in the United States.

70. Tay Sachs Disease Tay Sachs Disease. taysachs disease; tay-sachs disease; tay-sachs disease; GENETICDISEASE FAQ; National Tay-Sachs Allied Diseases Association of Delaware Valley; http://www.bdid.com/taysachs.htm

HOME Tay Sachs Disease Tay-Sachs disease Tay-Sachs disease Tay-Sachs disease GENETIC DISEASE FAQ ... HOME

71. NEJM -- Screening For Carriers Of Tay-Sachs Disease Among Ashkenazi Jews. A Comp PreviousPrevious, Volume 323612, July 5, 1990, Number 1. Next Next.Screening for carriers of tay-sachs disease among Ashkenazi Jews. http://content.nejm.org/cgi/content/short/323/1/6

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 323:6-12 July 5, 1990 Number 1 Next Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests BL Triggs-Raine, AS Feigenbaum, M Natowicz, MA Skomorowski, SM Schuster, JT Clarke, DJ Mahuran, EH Kolodny, and RA Gravel Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Triggs-Raine, B. L. Gravel, R. A. Medline Citation Abstract Source Information Research Institute, Hospital for Sick Children, Toronto, Canada. This article has been cited by other articles: Post, J. C., Ehrlich, G. D. (2000). The Impact of the Polymerase Chain Reaction in Clinical Medicine. JAMA [Full Text] HOME SEARCH CURRENT ISSUE ... HELP Comments and questions? Please contact us The New England Journal of Medicine is owned, published, and Massachusetts Medical Society

72. Tay-Sachs Disease - Wikipedia taysachs disease. (Redirected from tay-sachs disease). Infants with Tay-Sachsdisease appear to develop normally for the first few months of life. http://www.wikipedia.org/wiki/Tay-Sachs_Disease

Main Page Recent changes Edit this page Older versions Special pages Set my user preferences My watchlist Recently updated pages Upload image files Image list Registered users Site statistics Random article Orphaned articles Orphaned images Popular articles Most wanted articles Short articles Long articles Newly created articles Interlanguage links All pages by title Blocked IP addresses Maintenance page External book sources Printable version Talk Log in Help Tay-Sachs disease (Redirected from 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 Presently there is no treatment for Tay-Sachs. Even with the best of care, children with Tay-Sachs disease usually die by age 5. By genetic disorder it is meant that Tay-Sachs is an autosomal recessive genetic condition resulting from mutation of the HEXA gene encoding the alpha-subunit of the lysosomal enzyme alpha-N-acetylhexosaminidase. This enzyme is necessary for breaking down N-galactosamine from GM2 gangliosides in brain and nerve cells. More than thirty mutations have been identified in the HEXA gene. These consist of

73. Tay-Sachs Disease - Wikipedia taysachs disease. From Wikipedia, the free encyclopedia. Infants with Tay-Sachsdisease appear to develop normally for the first few months of life. http://www.wikipedia.org/wiki/Tay-Sachs_disease

Main Page Recent changes Edit this page Older versions Special pages Set my user preferences My watchlist Recently updated pages Upload image files Image list Registered users Site statistics Random article Orphaned articles Orphaned images Popular articles Most wanted articles Short articles Long articles Newly created articles Interlanguage links All pages by title Blocked IP addresses Maintenance page External book sources Printable version Talk Log in Help Tay-Sachs disease From Wikipedia, the free encyclopedia. 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 Presently there is no treatment for Tay-Sachs. Even with the best of care, children with Tay-Sachs disease usually die by age 5. By genetic disorder it is meant that Tay-Sachs is an autosomal recessive genetic condition resulting from mutation of the HEXA gene encoding the alpha-subunit of the lysosomal enzyme alpha-N-acetylhexosaminidase. This enzyme is necessary for breaking down N-galactosamine from GM2 gangliosides in brain and nerve cells. More than thirty mutations have been identified in the HEXA gene. These consist of

74. Tay-Sachs Disease Prevention - Wolper Hospital What is taysachs disease? tay-sachs disease (TSD) is an inherited (genetic), incurabledisease of the central nervous system. Who gets tay-sachs disease? http://www.wolper.com.au/Programs/Tay-Sachs/tay-sachs.html

What is Tay-Sachs disease? Tay-Sachs disease (TSD) is an inherited (genetic), incurable disease of the central nervous system. In the classical form, symptoms first appear at about the age of 6 months, when an apparently healthy baby stops smiling, crawling or turning over, loses their ability to grasp or reach out, and gradually becomes blind and paralysed. There is no cure for the disease and death usually occurs before the age of five years. Babies with TSD do not have the correct genetic information to tell his/her body to produce an enzyme called B-Hexosaminidase A (HexA), which is necessary for breaking down certain substances in the brain and nerve cells. These substances then accumulate in the nerve cells causing irreversible damage. Who gets Tay-Sachs disease? Genetic diseases are often more common in specific community groups. TSD is most common amongst descendants of Central and Eastern European (Ashkenazi) Jews and some French Canadians. What causes Tay-Sachs disease? TSD is caused by inheriting a 'double-dose' of a fault in a gene which codes for the HexA enzyme. Every person has two copies of this gene in each cell of their body. A person will only be affected by TSD if s/he has a fault (mutation) in both copies of the HEXA gene. This can only happen if one faulty copy is inherited from each parent. About one in every 26 Ashkenazi Jews and 1 in every 40 French Canadians carries one copy of the faulty gene and one regular copy of the gene. In the general population, however, only about one in 300 people carry a faulty copy of the HEXA gene. Carriers themselves are not affected by the disease.

75. Health And Wellness Dictionary: Tay-Sachs Disease Dictionary Contents T taysachs disease. Health and WellnessDictionary Definition. tay-sachs disease. tay-sachs disease is a http://geoparent.com/dictionary/Detailed/424.htm

From pre-pregnancy to baby care through parenting... See more from GeoParent! Parenting features GeoParent Local ePregnancy Chef Mom.com Myria - for moms SheKnows directory HolidayNotes webcards search site directory local sites message boards ... main page Search: site directory more search options Dictionary Contents T : Tay-Sachs disease Health and Wellness Dictionary: Definition Dictionary Main Search GeoParent Main Page Health articles ... X-Y-Z Tay-Sachs disease Want more? Click here to search the rest of the GeoParent site for information on Tay-Sachs disease! Search the dictionary Click for more search options Check out our local features! Look it up in our health dictionary! Mayo Clinic Family Health Book (book) Directory of Health Articles Directory of all articles Order online at Drugstore.com! About this information: These definitions were provided by the Centers for Disease Control, the National Institutes for Health and other government health agencies. This information is for educational purposes only. If you are concerned about your health or your child's health, please consult your family's health care provider immediately. This information is not a substitute for personal medical attention, diagnosis or treatment. Message boards Pregnancy calendar Baby calendar Health dictionary ... Coloring pages COMMUNITY Newborns 2001 Babies Parenting ideas Toddlers Preschoolers SAH Moms Working Moms First-time parents TTC/Pregnancy Stay here Timeline TTC/Pregnancy Baby Toddler Preschool/Kindergarten ... Teen By Topic Ask the Experts Family time Education The life of a mom ... Click for more!

76. Tay-Sachs Disease: From HealthSquare.com taysachs disease. Advertising. WHAT YOU SHOULD KNOW. Signs/Symptoms. The firstsigns of tay-sachs disease appear during the first 4 to 6 months of life. http://www.healthsquare.com/mc/fgmc9049.htm

Privacy About Advertising Advertising Advertising Home Guide to Medical Care Tay-Sachs Disease GOTO: PDR® Encyclopedia of Medicine PDR® Guide to Prescription Drugs HEALTH INFORMATION CENTER Advertising Advertising FIND HEALTHCARE PROVIDERS Doctors ... Pharmacies Tay-Sachs Disease Advertising WHAT YOU SHOULD KNOW Tay-Sachs disease is a rare, fatal, hereditary disorder in which large and damaging quantities of a fatty substance called ganglioside GM accumulate in the brain, causing gradual deterioration. The disease strikes 1 in 3,600 infants of Eastern European (Ashkenazi) Jewish or French Canadian decent, and ends in death by age 3 or 4. In extremely rare cases, the disease develops later in life. Causes A child will develop this disorder only if both parents are Tay-Sachs carriers. In such individuals, one of the two genes that trigger production of hex A is defective. Although the carriers themselves do not have the disease or any of its symptoms, there is a 25 percent chance that any child they produce will inherit a defective hex A gene from each of them, and, with no normal hex A genes, succumb to the disease. (There is a 50 percent chance that the child will inherit one normal hex A gene and one Tay-Sachs gene and, like his parents, become a Tay-Sachs carrier. There is also a 25 percent chance that the child will inherit a normal hex A gene from each parent and be completely free of the disease.) If only one parent is a carrier, the child is certain to receive at least one normal hex A gene and thus be spared from disease. However, he has a 50 percent chance of inheriting one defective gene and becoming a carrier.

77. Jewish Genetic Diseases Program - What Is A Jewish Genetic Disease taysachs disease. tay-sachs disease is a progressive neurological conditionthat begins during infancy. Deterioration of the central http://www.sbhcs.com/genetics/offer/tay.html

Tay-Sachs disease TAY-SACHS disease is a progressive neurological condition that begins during infancy. Deterioration of the central nervous system becomes apparent at about 6 months of age. Symptoms include loss of coordination, blindness, deafness, seizures and severe mental retardation. There is no cure at the present time and average life expectancy is about 3-5 years. A variation, called “Late-Onset Tay-Sachs disease,” affects people in childhood to adulthood and leads to a slower degeneration in the nervous system. Approximately 1 in 25 Ashkenazi Jews are carriers. Tay-Sachs is caused by an enzyme deficiency. The preferred testing method involves measurement of the enzyme level. The carrier detection rate, using this technique, is about 99%. In some cases, DNA mutation analysis is also used to clarify enzyme results. The DNA carrier detection rate is about 94% in the Ashkenazi Jewish population. Resources: 2001 Beacon Street Brighton, MA

78. OMIM 272800 : TAY-SACHS DISEASE - HUM-MOLGEN Author, Topic OMIM 272800 taysachs disease. Administrator Administrator,posted 01-27-2000 1019 AM Click Here to See the Profile http://www.hum-molgen.de/bb/Forum2/HTML/000016.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) OMIM 272800 : TAY-SACHS DISEASE profile register preferences faq ... next oldest topic Author Topic: OMIM 272800 : TAY-SACHS DISEASE Administrator Administrator posted 01-27-2000 10:19 AM http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?272800 We are investigating the extent of linkage-disequilibrium around the TS locus in the Ashkenazi Jewish population and need DNA from affected individuals homozygous for the 1278+TATC mutation. Anyone willing to provide anonymous DNA or cells from such cases please contact me at: Robert D. Burk, M.D. Ullmann Rm. 515 Albert Einstein College of Medicine 1300 Morris Park Ave. Bronx, NY 10461 Direct Tel: 718 430-3720 FAX: 718 430-8975 Lab 718 430-3744 IP: 160.45.191.21 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications

79. Health Library: All Topics: T: Tay-Sachs Disease - Healthfinder® taysachs disease A general overview of tay-sachs disease that includes a descriptionof the disorder, treatment, prognosis and research information. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=841

80. Tay-Sachs Disease taysachs disease Alternative Names hexosaminidase A deficiency, GM2-gangliosidosis,type I Definition tay-sachs disease is a genetic disorder that causes an http://atoz.iqhealth.com/HealthAnswers/encyclopedia/HTMLfiles/3039.html

Tay-Sachs disease Alternative Names hexosaminidase A deficiency, GM2-gangliosidosis, type I Definition Tay-Sachs disease is a genetic disorder that causes an early breakdown of the nervous system. Most people born with this disease do not survive past their third birthday. What is going on in the body? Tay-Sachs disease is caused by an enzyme defect. An important enzyme, hexosaminidase A, is not completely formed. Because of this enzyme defect, the body cannot break down a protein that is normally found in cells of the body. When this happens, the protein accumulates in the nerve cells. Then, the nerve cells swell up and degenerate, causing a breakdown of the nervous system. What are the signs and symptoms of the disease? Children born with this disease have: an exaggerated reaction to loud noises poor muscle tone decrease of purposeful movements drooling seizures blindness Most children die when they are between the ages of 2 and 4 years. What are the causes and risks of the disease? A defective gene causes the enzyme defect that leads to Tay-Sachs disease. The gene is autosomal recessive in character. Autosomal means that the gene is on one of the 22 pairs of non-sex chromosomes. Recessive means that there must be two copies of the gene for the disease to exist. Tay-Sachs disease is most common among Jews of Eastern European origin, specifically Ashkenazi Jews. Among this group, the carrier frequency is 1 in 30. Among non-Jews the carrier frequency is 1 in 300.

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