41. ► Tay-Sachs Disease A medical encycopedia article on the topic tay-sachs disease. http://www.umm.edu/ency/article/001417.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs UM Hospital for Children Home Medical Reference Encyclopedia (English) Toggle English Spanish Tay-Sachs disease Overview Symptoms Treatment Prevention Definition: A familial disorder found predominantly in Ashkenazi Jewish families, which results in early death. Causes, incidence, and risk factors: Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue). These gangliosides, particularly ganglioside GM2, then accumulate in the brain, causing neurological deterioration. Tay-Sachs disease is inherited as a recessive gene, and 1 out of every 25 members of the Ashkenazi Jewish population carries the gene. The incidence is 1 out of 2,500 people in this population. Depending on the age of onset and clinical features, Tay-Sachs has been classified into infantile-, juvenile-, and adult-onset forms. The majority of people with Tay-Sachs, however, have infantile forms. Symptoms begin to appear at 3 to 6 months old. The disease unfortunately tends to progress rapidly, and the child usually dies by the age of 4 or 5 years.

42. Tay-Sachs Disease Tay Sachs disease is a rare inherited disorder in which little or none of the enzyme hexosaminidase http://my.webmd.com/hw/health_guide_atoz/stt11500.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Tay-Sachs disease Tay-Sachs is an inherited disease in which the body does not break down fatty compounds, called gangliosides, as it should. As the gangliosides accumulate in the body, they damage brain and nerve cells to the point that these cells cannot function properly. There are two forms of Tay-Sachs disease: In the classical or infantile form (the most common type), the body produces no hex A. This form of the disease develops during infancy. A baby with Tay-Sachs disease appears healthy at birth. Symptoms usually first appear 3 to 6 months after birth, beginning with mild motor weakness and occasional twitches of the eye (myoclonic jerks). The baby's condition progressively gets worse with seizures, blindness, paralysis, and death at age 4 to 5 years. In late-onset Tay-Sachs (LOTS), the body produces lower-than-normal amounts of hex A. This form of the disease begins between adolescence and the mid-30s. In late-onset Tay-Sachs disease, the symptoms such as clumsiness or mood changes may be subtle at first, later progressing to muscle weakness and twitching, slurred speech, impaired thinking and reasoning, and mental disorders. The life expectancy for a person with LOTS is not known. Depending on how severe the symptoms are, the person may live as long as someone who does not have Tay-Sachs disease.

43. Tay-Sachs Disease -- Topic Overview What is Tay Sachs disease? - Tay - Sachs disease is a rare genetic disorder in which little or no hexosaminidase http://my.webmd.com/hw/raising_a_family/hw182977.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... Credits Tay-Sachs Disease Topic Overview What is Tay-Sachs disease? Tay-Sachs disease is a rare genetic disorder in which little or no hexosaminidase A (hex A) enzyme is produced by the body. Hex A is necessary to break down normal fatty compounds called gangliosides in the body cells. When these fatty compounds are not broken down, they gradually accumulate and damage brain and nerve cells, making the cells unable to function properly. There are two forms of Tay-Sachs disease: In the classical or infantile form (the most common type), the body produces no hex A. This form of the disease develops during infancy. In late-onset Tay-Sachs (LOTS), the body produces some hex A, but lower-than-normal amounts. This form of the disease begins between adolescence and the mid-30s. What causes Tay-Sachs disease?

44. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Tay-Sachs Di taysachs disease is the most familiar of the Jewish genetic disorders. Babies with tay-sachs disease are normal at birth. However, at 3-6 months of age, http://www.jewishgeneticscenter.org/what/ashkenazi/tay.asp

Ashkenazi Disorders: Mendelian Tay-Sachs Disease Tay-Sachs disease is the most familiar of the Jewish genetic disorders. Babies with Tay-Sachs disease are normal at birth. However, at 3-6 months of age, an affected baby will begin to lose developmental skills. Tay-Sachs disease is caused by a deficiency of an enzyme called hexosaminidase A or hex A. Lack of this enzyme affects the brain and the nervous system causing rapid and progressive deterioration. This condition is life shortening with death usually occurring by the age of 6. No effective treatment is available at this time. A late-onset form of Tay-Sachs also occurs, although it is rare. Disease frequency: Potentially 1in 2,500 in the Jewish population. Frequency decreased through success of carrier screening programs. Carrier frequency: 1/26 - 1/30 in Jews, 1/300 in non-Jewish population. Diagnosis: By measuring for deficiency of enzyme hex A in blood. Inheritance: Autosomal Recessive Carrier testing: By measuring for deficiency of hex A in blood and genetic testing of the Tay-Sachs gene. Prenatal diagnosis: Possible by genetic testing of the Tay-Sachs gene or testing for deficiency of enzyme hex A.

45. GeneDis Tay-Sachs Mutations Web Site Visit the taysachs disease Database at Locus Specific Mutation Databases . Disease description. Tay-Sachs (OMIM 272800) is an autosomal recessive, http://life2.tau.ac.il/GeneDis/Tables/Tay_Sachs/tay_sachs.html

GeneDis Human Gene tic Dis ease Database Tay-Sachs Disease Scientific editor: Prof. Ruth Navon Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel. Database coordinator: Dr. Rachel Kreisberg-Zakarin Bioinformatics Unit , G.S. Wise Faculty of Life Sciences, Tel Aviv University, Israel. GeneDis Website for Tay-Sachs Disease Tay-Sachs disease is a autosomal recessive, progressive neurodegenerative disorder, caused due to mutations in the HexA gene. The GeneDis web site for Tay-Sachs includes the wild type primary sequences of the HexA gene and protein. Known mutations are incorporated in the gene and in the protein sequences using hyperlinks. Users can compare HexA DNA or protein sequences to the wild type hyperlinked sequences present in GeneDis. The pairwise alignment output retains the hyperlinks, which enable the user to browse through the Tay-Sachs Disease mutation tables. The mutation tables show the location of the mutation on the cDNA, genomic DNA and protein sequence, the number of exon or intron, the severity of the disease associated with the mutation and a reference in which the mutation was first described. Go to "Search the Tay-Sachs with your primary DNA or protein sequence" Go to "GeneDis Homepage" Visit the Tay-Sachs Disease Database at " Locus Specific Mutation Databases Disease description Tay-Sachs ( OMIM 272800 ) is an autosomal recessive, progressive neurodegenerative disorder, which in the classic infantile form, is usually fatal by age 2 or 3 years, results from deficiency of the enzyme hexosaminidase A. The disease is clinically characterized by by the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life. A gray-white area around the retinal fovea centralis, due to lipid-laden ganglion cells, leaving a central cherry-red' spot is a typical funduscopic finding. Pathologic verification is provided by the finding of the typically ballooned neurons in the central nervous system. An early and persistent extension response to sound ('startle reaction') is useful for recognizing the disorder.

46. Tay-Sachs Disease taysachs disease (TSD) is a fatal genetic disorder that causes What causes tay-sachs disease? TSD is caused by the absence of a vital enzyme called http://www.med.umich.edu/1libr/aha/umjew02.htm

Adult Health Topics All Health Topics Find a UMHS Doctor Search Adult Topics Search All Topics This information is approved and/or reviewed by U-M Health System providers but it is not a tool for self-diagnosis or a substitute for medical treatment. You should speak to your physician or make an appointment to be seen if you have questions or concerns about this information or your medical condition. Tay-Sachs Disease What is Tay-Sachs Disease? Tay-Sachs Disease (TSD) is a fatal genetic disorder that causes progressive destruction of the central nervous system resulting in the early death of children. What causes Tay-Sachs Disease? TSD is caused by the absence of a vital enzyme called hexosaminidase A (Hex-A). Without Hex-A, a fatty substance called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. When do symptoms begin to occur?

47. Dr. Koop - Tay-Sachs Disease taysachs disease is a familial disorder found predominantly in Ashkenazi Jewish families that results in early death. http://www.drkoop.com/ency/93/001417.html

Home Health Reference Tay-Sachs disease Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Tay-Sachs disease Injury Disease Nutrition Poison ... Prevention Tay-Sachs disease Definition: Tay-Sachs disease is a familial disorder found predominantly in Ashkenazi Jewish families that results in early death. Causes, incidence, and risk factors: Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue). These gangliosides, particularly ganglioside GM2, then accumulate in the brain, causing neurological deterioration. Tay-Sachs disease is inherited as a recessive gene, and 1 in 25 members of the Ashkenazi Jewish population carries the gene. Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the type of symptoms and when they first appear. The majority of people with Tay-Sachs have infantile forms. Symptoms generally begin to appear when the child is 3 to 6 months old. The disease tends to progress rapidly, and the child usually dies by the age of 4 or 5 years.

48. Tay-Sachs Disease: The Absence Of Hope taysachs disease was named for Warren Tay and Bernard Sachs, tay-sachs disease is considered extremely rare among the general population. http://serendip.brynmawr.edu/biology/b103/f02/web1/lfriedman.html

This paper reflects the research and thoughts of a student at the time the paper was written for a course at Bryn Mawr College. Like other materials on Serendip , it is not intended to be "authoritative" but rather to help others further develop their own explorations. Web links were active as of the time the paper was posted but are not updated Contribute Thoughts Search Serendip for Other Papers Serendip Home Page Biology 103 ... 2002 First Paper On Serendip Tay-Sachs Disease: The Absence of Hope Lauren Friedman Introduction. When a couple has a baby, they pray that they will have an easy childbirth and a healthy newborn. However, an easy delivery and a healthy-seeming baby does not guarantee a problem-free childhood. Children born with Tay-Sachs Disease (TSD), a fatal genetic disorder, do not show symptoms until they are six months old, but almost never survive past the age of five. Tay-Sachs Disease was named for Warren Tay and Bernard Sachs, two doctors working independently. In 1881, Dr. Tay, an ophthalmologist, described a patient with a cherry red spot on the back of his eye; the presence of this red spot has become a clear signal for the diagnosis of TSD. Several years later, Dr. Sachs, a New York neurologist, described the cellular changes caused by TSD, observed the hereditary nature of the disease, and noted its predominance among Jews of Eastern European descent A rarer form of the disease known as Late-Onset Tay-Sachs exists, but this paper will focus on classic infantile TSD and explore its scientific and social implications.

49. Tay-Sachs Disease A healthy baby is able to develop vision, movement, hearing, and other vital functions, in part, because substances called enzymes regularly clear out http://kidshealth.org/parent/medical/genetic/tay_sachs.html

KidsHealth Parents Medical Problems A healthy baby is able to develop vision, movement, hearing, and other vital functions, in part, because enzymes clear out fatty protein and other unwanted material that can interfere with growth. But a baby with Tay-Sachs disease is born without one of those important enzymes, called Hexosaminidase A (Hex A). So, as those fatty proteins build up in the brain, they hurt the baby's sight, hearing, movement, and mental development. A child can only get Tay-Sachs by inheriting it. The genetic trait is relatively common among certain ethnic groups, such as Ashkenazi Jews. Because the disease can be detected before a child is born, couples in those ethnic groups who are thinking of having children may want to get a blood test to find out whether their child would be likely to have the disease. Who Is at Risk for Tay-Sachs? Each year, about 16 cases of Tay-Sachs are diagnosed in the United States. Although Ashkenazi Jews (Jews of central and eastern European descent) are at the highest risk for the disease, it is now also prevalent in non-Jewish populations, including Cajuns in Louisiana and French Canadians who live near the St. Lawrence River. Some people carry the genetic mutation that causes Tay-Sachs, but do not develop the full-blown disease. Among Ashkenazi Jews, one in 27 people are carriers. In the general population, one in 250 people are carriers.

50. Tay-Sachs Disease taysachs disease Late Onset Tay-Sachs Foundation. 1303 Paper Mill Road, Erdenheim, PA 19038. (800)672-2022. March of Dimes Birth Defects Foundation. http://www.healthatoz.com/healthatoz/Atoz/ency/tay-sachs_disease.jsp

51. AllRefer Health - Tay-Sachs Disease taysachs disease information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups, http://health.allrefer.com/health/tay-sachs-disease-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Tay-Sachs Disease Tay-Sachs Disease Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Definition Tay-Sachs disease is a familial disorder found predominantly in Ashkenazi Jewish families that results in early death. Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue). These gangliosides, particularly ganglioside GM2, then accumulate in the brain, causing neurological deterioration. Tay-Sachs disease is inherited as a recessive gene, and 1 in 25 members of the Ashkenazi Jewish population carries the gene. Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the type of symptoms and when they first appear. The majority of people with Tay-Sachs have infantile forms.

52. Tay These enlarged, pale neurons are in a baby with taysachs disease. cns109.jpg (123007 bytes). The Luxol fast blue stain highlights the large swollen neurons http://medgen.genetics.utah.edu/photographs/pages/tay.htm

Tay-Sachs disease These enlarged, pale neurons are in a baby with Tay-Sachs disease. The Luxol fast blue stain highlights the large swollen neurons in Tay-Sachs disease. Examinations Photographs Movies Links ... noJava Home

53. Tay-Sachs Disease (TSD) Treatment Options At Mayo Clinic Find taysachs disease (TSD), also known as infantile ganglioside lipidosis, treatment options at Mayo Clinic. http://www.mayoclinic.org/tay-sachs-disease/

Home About Mayo Clinic Jobs Contact Us Mayo Clinic Locations: Arizona Florida Minnesota Mayo Clinic ... Medical Services Tay-Sachs Disease Tay-Sachs Disease Overview Symptoms Genetic Testing Treatment Options ... Medical Services Treatment of Tay-Sachs Disease at Mayo Clinic (Synonyms: TSD, Tay Sachs disease, B variant GM2 gangliosidosis, GM2 gangliosidosis Type 1, HexA deficiency, Hexosaminidase A Deficiency Disease, hexosaminidase alpha-subunit deficiency variant B, infantile ganglioside lipidosis, Tay-Sachs spingolipidosis, lysosomal disorder) Tay-Sachs disease is a genetically inherited disorder, passed on from the parents to their biological child, in which the child's brain and nervous system progressively deteriorate. As the disease progresses, the body loses function, leading to blindness, deafness, paralysis and death. In the most common form, an infant will begin to show symptoms around 6 months old and die within a few years. Late-onset Tay-Sachs may develop in adolescence and adulthood. Mayo Clinic has expertise and experience in diagnosing and caring for patients with Tay-Sachs disease and supporting their families. Treatment programs are tailored to each individual and take into account the needs of the patient and family, while providing state-of-the-art care and access to new developments and appropriate clinical trials. Diagnosis An evaluation begins with a complete physical examination, along with a detailed history of symptoms and family hereditary disorders, including Tay-Sachs disease. A physical exam of the eyes in patients with Tay-Sachs may reveal a "cherry-red" spot in the back of the eyes, a telltale symptom of the disease.

54. Tay-Sachs Disease - Quest Diagnostics Patient Health Library What is taysachs disease? tay-sachs disease is a rare genetic disorder in which little or no hexosaminidase A (hex A) enzyme is produced by the body. http://www.questdiagnostics.com/kbase/topic/mini/hw182975/overview.htm

var hwPrint=1;var hwDocHWID="hw182975";var hwDocTitle="Tay-Sachs Disease";var hwRank="1";var hwSectionHWID="hw182977";var hwSectionTitle="Topic Overview";var hwSource="en-usQ2_05";var hwDocType="Mini"; Tay-Sachs Disease Topic Overview What is Tay-Sachs disease? Tay-Sachs disease is a rare genetic disorder in which little or no hexosaminidase A (hex A) enzyme is produced by the body. Hex A is necessary to break down normal fatty compounds called gangliosides in the body cells. When these fatty compounds are not broken down, they gradually accumulate and damage brain and nerve cells, making the cells unable to function properly. There are two forms of Tay-Sachs disease: In the classical or infantile form (the most common type), the body produces no hex A. This form of the disease develops during infancy. In late-onset Tay-Sachs (LOTS), the body produces some hex A, but lower-than-normal amounts. This form of the disease begins between adolescence and the mid-30s. What causes Tay-Sachs disease?

55. Einstein - Tay-Sachs Disease Classical taysachs disease is an inherited, genetic disorder that causes Babies born with tay-sachs disease appear normal at birth, and symptoms of the http://www.einstein.edu/yourhealth/genetic/jewishgenetic/article8417.html

Network Home Employment Contact Us Search How Can We Help You? FIND .. .. A Physician .. Physician Referral .. An Einstein Facility .. Directions .. Health Information .. Patient/Visitor Info .. Patient Privacy .. Events .. Support Groups .. Employment .. Residency Programs TOOLS .. .. Site Search .. Site Index .. Site Help .. Contact Us ABOUT US .. .. Quality Healthcare .. Make a Difference .. About Us Your Health EINSTEIN HEALTH TOPICS .. Behavioral Health .. Cancer .. Diabetes .. Digestive Health .. Geriatric Services .. Genetic Services .. Heart Health .. Jewish Genetic Diseases .. Kidney/Pancreas .. Liver .. Medical Rehab .. Mental Health .. Neonatology .. Neurosurgery .. Older Adults .. Orthopaedics .. Physical Disabilities .. Primary Care .. Smoking Cessation .. Travel Health .. Weight Loss Surgery .. Women's Health HEALTH LIBRARY .. Conditions inFull .. Procedures inBrief .. Weekly Health Journals INTERACTIVE TOOLS .. Self-Assessment Tools .. Drug Database Classical Tay-Sachs disease is an inherited, genetic disorder that causes progressive degeneration and destruction of the central nervous system in affected individuals. Babies born with Tay-Sachs disease appear normal at birth, and symptoms of the disease do not appear until the infants are about four to six months of age. It is at this time that these children begin to lose previously attained skills, such as sitting up or rolling over. They gradually lose their sight, hearing and swallowing abilities. There is severe developmental delay. These children usually die by the age of four.

56. Tay-Sachs Disease - DrGreene.com - Caring For The Next Generation Dr. Greene talks about taysachs disease. The story of tay-sachs disease is one of heartbreaking poignancy. The magical experience of a wonderful, http://www.drgreene.com/21_1202.html

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57. Tay-Sachs Disease taysachs disease is a genetic disease common in Jews and French-Canadians. A mutated gene stops the body from producing an enzyme needed for proper brain http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Tay-Sachs_disease

58. Tay-Sachs Disease Medical Information taysachs disease Information from Drugs.com. tay-sachs disease is a familial disorder (it affects more than 1 member of a family) that results in early http://www.drugs.com/enc/tay_sachs_disease.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Tay-Sachs disease Injury Disease Nutrition Poison ... Z Tay-Sachs disease Definition Tay-Sachs disease is a familial disorder (it affects more than 1 member of a family) that results in early death. It is found predominantly in Ashkenazi Jewish families. Causes Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue). These gangliosides, particularly ganglioside GM2, then accumulate in the brain, causing neurological deterioration. Tay-Sachs disease is inherited as a recessive gene, and 1 in 25 members of the Ashkenazi Jewish population carries the gene. Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the type of symptoms and when they first appear. The majority of people with Tay-Sachs have the infantile form.

59. Tay Sachs Disease What is Late Onset taysachs disease? Late-Onset Tay-Sachs Foundation Sandhoff Disease National Tay Sachs and Allied Diseases Association http://www.noah-health.org/en/bns/disorders/taysachs/

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Brain and Nervous System Change text size: Tay Sachs Disease Updated: August 23, 2005 The Basics Tay-Sachs Disease March of Dimes (also in Spanish Information Resources National Tay Sachs and Allied Diseases Association Sandhoff Disease Sandhoff Disease Information Page National Institute of Neurological Disorders and Stroke Researched by NOAH Contributing Editor: NOAH Team NOAH Brain and Nervous System Specific Nervous System Disorders > Tay Sachs Disease Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

60. Search Result For "Tay Sachs Disease" Late Onset taysachs disease Data Sheet; What is Late Onset tay-sachs disease? tay-sachs disease; National Tay Sachs and Allied Diseases Association; http://www.noah-health.org/search/results.php?lang=1&keyword=Tay Sachs Disease&d

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