61. Search Result For "Niemann-Pick Disease" About niemannpick Disease Type C; niemann-pick Disease Information Page; What is niemann-pick Disease?; What are the Signs and Symptoms of NPD?; http://www.noah-health.org/search/results.php?lang=1&keyword=Niemann-Pick Diseas

62. Daughter Of Couple Who Fought For Niemann-Pick Cure Dies niemannpick Type C affects about 500 children worldwide, and killed her brother Michael in 1997 and sister Christa in 2001. Her older brother, Ara, http://kvoa.com/Global/story.asp?S=3694879

63. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Niemann-Pick Technical Information on niemannpick Disease, Type A. Additional Information National niemann-pick Disease Foundation, Inc. PO Box 49 415 Madison Ave. http://www.jewishgeneticscenter.org/what/ashkenazi/niemann.asp

Ashkenazi Disorders: Mendelian Niemann-Pick Disease, Type A This disease is caused by a deficiency of an enzyme called sphingomyelinase, an enzyme responsible for breaking down a specific fat in the body. Lack of sphingomyelinase causes an accumulation of this fat in various body organs. There are several subtypes of this condition. Type A is seen with increased frequency in those of Jewish ancestry. In type A, accumulation also occurs in the brain and nervous system which causes rapid deterioration and death 2-3 years of age. No cure or effective treatment is available. Disease frequency: 1 in 40,000 for type A in the Jewish population. Carrier frequency: As high as 1 in 70 for those of Jewish ancestry. Diagnosis: Laboratory testing looking for deficiency of a specific enzyme or by genetic testing of the Niemann-Pick gene. Inheritance: Autosomal Recessive Carrier testing: Available by testing of the Niemann-Pick gene. Prenatal diagnosis: Available to those with an affected child or to couples identified to be at risk by carrier testing. Technical Information on Niemann-Pick Disease, Type A

64. Niemann Pick Disease Public awareness campaign advocating medical research in support of the battle against niemannpick Disease. http://www.jacob-quinn.com/disease.htm

The Disease First Web Posting June '98 Although not widely known by the public and classified as rare by medical science, Niemann-Pick Disease (NPD) Type C has been the subject of worldwide medical research for many years because it is considered an important link inability to metabolize cholesterol properly. Consequently, cholesterol begins to accumulate in the liver, the spleen and the brain - a process which eventually results in serious neurological damage discovery last summer of the primary gene associated with NPD-C medical research has intensified worldwide, and at least one drug has been found which delays the onset of serious effects but it is not yet ready for clinical trials. (Apparently, life as a little mouse does have its advantages). Usually, the effects of Niemann-Pick Disease Type C (deterioration of motor skills, slurred speech, etc.) th birthday. , the prognosis is more difficult because of his early age, but serious effects could begin in as few as two years. At the present time For more information about the battle against NPD Type C , please visit the website of the Ara Parseghian Medical Research Foundation - the Leader in supporting medical research to find a cure for this disease. Information on all types of NPD can be found at the

65. Niemann-Pick Disease niemannpick disease refers to a group of inherited conditions that affect the niemann-pick disease is inherited. It is an autosomal recessive trait, http://healthgate.partners.org/browsing/browseContent.asp?fileName=22482.xml&tit

66. October Is Niemann-Pick Disease Awareness Month niemannpick Disease. The average person probably hasn’t heard of it unless a “The Rhode Island Legislature proclaimed October niemann-pick Disease http://www.health.ri.gov/media/031021a.php

Home Health Topics News Data ... Media Releases 1998 Rhode Island Department of Health 3 Capitol Hill Providence, RI 02908 Phone: (401) 222-2231 Fax: (401) 222-6548 711(TTY) Media Release October is Niemann-Pick Disease Awareness Month There are probably no more than few hundred people in the United States with Niemann-Pick disease, which is caused by a genetic mutation that inhibits the production of certain lipid (fat) enzymes. In its most severe form, with almost no enzyme production, a infant begins to show neurological symptoms at two or three months and may die in the first year of life. In less severe cases (up to ten percent of normal enzyme activity), patients generally have less or no neurological involvement and may survive into late childhood or adulthood. The disease enlarges livers and spleens and causes respiratory problems, all of which can cause cardiovascular stress and lead to heart disease. Niemann-Pick affects all segments of the population. However, a higher incidence has been found in certain populations: Ashkenazi Jews, French Canadians of Nova Scotia, the Maghreb region of Tunisia, Morocco and Algeria and the Spanish-American population of southern New Mexico and Colorado. A subcategory of the disease is found only among descendants of one French Canadian couple who lived in Yarmouth County, Nova Scotia at the beginning of the 16 th century. Niemann-Pick is always fatal, usually before adulthood.

67. Genome.gov | Talking Glossary: "Niemann-Pick Disease, Type C (NPC)" Easyto-use, talking glossary of genetic terms, produced by the National Human Genome Research Institute. http://www.genome.gov/glossary.cfm?key=Niemann-Pick disease, type C (NPC)

68. Genome.gov | 1997 News Release, Niemann-Pick Type C Gene News release issued by the National Human Genome Research Institute in July 1997 to announce discovery of a gene for niemannpick Type C, a fatal childhood http://www.genome.gov/10000889

triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ... News Release Archives 1994-2004 1997 News Release, Niemann-Pick Type C Gene Print Version NIH Scientists Identify Gene for Fatal Childhood Disorder, Niemann-Pick Type C Finding Points to Critical New Steps in Cholesterol Processing July 1997 BETHESDA, Md. -After decades of work, scientists at the National Institutes of Health (NIH) have identified a gene alteration associated with the fatal childhood cholesterol disorder Niemann-Pick type C (NPC). Learning how the gene functions may lead to the first effective treatment for the disease and to a fundamental new understanding of how cholesterol is processed in the body. The gene, known as NPC1, is located on human chromosome 18. NPC causes progressive deterioration of the nervous system by blocking the movement of cholesterol within cells. The finding opens the door to improved diagnosis and understanding of this neurological disorder, which is usually fatal by age 25, and to the design of therapies that may correct the underlying problem. The finding also may contribute to the understanding of atherosclerosis, a more common killer associated with cholesterol buildup. Atherosclerosis is an accumulation of fatty tissue inside arteries that blocks blood flow, leading to heart disease and stroke. "This discovery is an excellent example of how research on rare brain disorders often pays off in other ways," says Zach W. Hall, Ph.D., director of the National Institute of Neurological Disorders and Stroke (

69. Einstein - Niemann-Pick Disease In niemannpick disease, harmful quantities of a fatty substance There are two types of niemann-pick disease, type A and type B. Type A is more common http://www.einstein.edu/yourhealth/genetic/jewishgenetic/article8416.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 In Niemann-Pick disease, harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow and sometimes in the brain. There are two types of Niemann-Pick disease, type A and type B. Type A is more common in the Ashkenazi Jewish population, with an estimated one in 90 carrier frequency. The gene is located on chromosome 11.

70. Short Description Of Cell Lines. Pathology: Niemann-Pick Disease, Type A *257200 Pathology niemannpick disease, type A *257200 OMIM record. - By selecting the cell line name, you will receive the detailed description of the cell line http://www.biotech.ist.unige.it/cldb/pat196.html

Version Short description of cell lines. Pathology: Niemann-Pick disease, type A OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian fibroblast MIECC human, Caucasian ... By Beatrice...

71. Short Description Of Cell Lines. Pathology: Niemann-Pick Disease *257200 Pathology niemannpick disease *257200 OMIM record. - By selecting the cell line name, you will receive the detailed description of the cell line http://www.biotech.ist.unige.it/cldb/pat121.html

Version Short description of cell lines. Pathology: Niemann-Pick disease OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian fibroblast MIECC IMG-1140 ... By Beatrice...

72. Niemann-Pick Disease, DNA Analysis This test detects ~95% of the mutations responsible for niemannpick disease, Schuchman EH and Miranda SR, niemann-pick Disease Mutation Update, http://www.labcorp.com/datasets/labcorp/html/chapter/mono/mg003400.htm

Niemann-Pick Disease, DNA Analysis Number CPT Related Information Chromosome Analysis, Instability Syndrome Synonyms Acid Sphingomyelinase Gene; Jewish Heritage Specimen Whole blood, amniotic fluid, or chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), buccal swab (The buccal swab collection kit contains instructions for the use of a buccal swab.) Volume 7 mL whole blood , 10 mL amniotic fluid, 20 mg CVS Minimum Volume 3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS Container Lavender-stopper (EDTA) or yellow-stopper (ACD) tube; sterile plastic conical tube or two confluent T25 flasks for fetal testing, LabCorp buccal swab kit Storage Instructions Maintain specimen at room temperature or refrigerate. Causes for Rejection Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container Use Identification of carrier and affected individuals for four mutations associated with Neimann-Pick disease, types A and B. Prenatal testing is available. Limitations Methodology Polymerase chain reaction (PCR) and allele-specific oligonucleotide (ASO) analysis References Genet Test , 1997, 1(1):13-9 (review).

73. Niemann-Pick Disease - Definition Of Niemann-Pick Disease By The Free Online Dic Definition of niemannpick disease in the Online Dictionary. Meaning of niemann-pick disease. What does niemann-pick disease mean? http://www.thefreedictionary.com/Niemann-Pick disease

Domain='thefreedictionary.com' word='Niemann-Pick disease' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia Niemann-Pick disease Also found in: Medical Wikipedia 0.02 sec. Page tools Printer friendly Cite / link Email Feedback Thesaurus Legend: Synonyms Related Words Antonyms Noun Niemann-Pick disease - a disorder of lipid metabolism that is inherited as an autosomal recessive trait inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism autosomal recessive defect autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body Mentioned in References in classic literature No references found No references found Dictionary/thesaurus browser Full browser niello Niels Abel Niels Bohr Niels Henrik Abel ... Nielson Niemann-Pick disease Niemen Niemeyer Niepce's process nierembergia ... Nielsen, Carl

74. Forward Newspaper Online: Log In To The Forward Jewish News, Politics, and Arts, Founded in 1897, Published in New York, http://www.forward.com/articles/3758

Friday, September 9, 2005 You are currently not logged in Log-in Register Yiddish edition Yiddish Radio ... Home User Pages Log In The article you are trying to view requires a free registration to view. You can register for free by filling out the form found here . If you have already registered, you can log in below to view the article. Please note that cookies are required for logging in to the site. Username: Password: Forgot Your Password? Trouble logging in? Home Contact ... Our History IN THIS WEEK'S ISSUE Beyond Klezmer: Jewish Music Today by Alexander Gelfand A Laureate and the King Who Shared His Love of Verse by Mark Oppenheimer Let's Meet at the Movies by Sasha Weiss Wilder Times: A Life and Legacy by A.J. Goldmann From 'Wanderers' by Richard Stern PORTION: The Case of the Two Sleuths by Jeffrey Fiskin IN THIS WEEK'S ISSUE In Storm-ravaged Gulf, Heroism, Help and Silence by E.J. KESSLER A Community's Trials: Cop Mans Post as Grandmother Is Buried by Jennifer Siegel Reform Camp in Mississippi Takes in Refugees by Jennifer Siegel Jewish Charities Mobilize To Aid Katrina Victims by Nathaniel Popper LETTER FROM NEW ORLEANS by BRIAN HOROWITZ Chertoff Takes Heat for Slow Response by E.J. KESSLER

75. Niemann Pick Disease - Quest Diagnostics Patient Health Library niemannpick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of niemann-pick disease have been identified (NPD http://www.questdiagnostics.com/kbase/nord/nord93.htm

var hwPrint=1;var hwDocHWID="nord93";var hwDocTitle="Niemann Pick Disease";var hwRank="1";var hwSectionHWID="nord93-Header";var hwSource="en-usQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Niemann Pick Disease Important It is possible that the main title of the report Niemann Pick Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms lipid histiocytosis lipidosis, sphingomyelin NPD sphingomyelinase deficiency juvenile dystonic lipidosis DAF syndrome Disorder Subdivisions Nieman Pick disease Type A (acute neuronopathic form) Nieman Pick disease Type B Nieman Pick disease Type C (chronic neuronopathic form) Nieman Pick disease Type D (Nova Scotia variant) Nieman Pick disease Type E Nieman Pick disease Type F (sea-blue histiocyte disease) General Discussion Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the enzyme acid sphingomyelinase (ASM), which is needed to break down sphingomyelin, a fatty substance found mostly in the brain and nervous system. This deficiency results in abnormal accumulation of excessive amounts of sphingomyelin in many organs of the body such as the liver, spleen, and brain. Symptoms of type C occur because of impaired trafficking of large molecules within cells, which results in the accumulation of excessive amounts of cholesterol and other lipids (glycosphingolipids) tissues throughout the body. The metabolic defect in type C can lead to a secondary reduction in ASM activity in some cells.

76. Niemann-Pick Disease Definition - Medical Dictionary Definitions Of Popular Medi Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=10149

77. Niemann-Pick Disease Type C Definition - Cholesterol: Health And Medical Informa Medical information about cholesterol 100% Doctor produced written for patients experiencing high cholesterol levels to make informed health decisions. http://www.medterms.com/script/main/art.asp?articlekey=24530

78. FOX11AZ.com | News For Tucson, Arizona | News | Local Daughter of couple who fought for niemannpick cure dies. 0511 PM MST on Monday, niemann-pick Type C stems from an inability to metabolize cholesterol. http://www.fox11az.com/news/local/stories/080805cckkKMSBParseghian.54e9b7fd.html

News Local News Tucson, Arizona Customize MySpecialsDirect Home News ... E-mail it to a friend Daughter of couple who fought for Niemann-Pick cure dies 05:11 PM MST on Monday, August 8, 2005 Associated Press Sixteen-year-old Marcia Parseghian granddaughter of the famed Notre Dame football coach died early Saturday in Tucson. She was the longest surviving of three siblings diagnosed with the rare and fatal genetic disease. Her parents learned in 1994 that three of their four children had the disease that resembles Alzheimer's. Within weeks, they established a foundation that has raised $22 million for research. Niemann-Pick Type C stems from an inability to metabolize cholesterol. Researchers hope work they've done on the disease can also help those at risk for cardiovascular disease, heart attack and stroke. APNP 08-07-05 1135MDT More headlines... Woman under the influence charged with second-degree murder Franchise owners file lawsuit No more evacuees expected in Tucson today ... More... ARTICLE TOOLS: Print it Discuss it E-mail it to a friend Advertising Tucson Worx Interim Jobs AOL Jobs Santa Rita Landscaping Jobs health connections Allergy Center Children's Health Chiropractic Eye Care Men's Health Senior's Health Sex and Relationships Women's Health Legal Connections Personal Injury ad center Create and place online advertising quickly and easily!

79. Niemann-Pick Disease CAUSES. sphingomyelinase deficiency. Synonyms. sphingomyelin lipidosis; sphingomyelinase deficiency. ICD9-CM 272.7 niemann-pick disease http://www.5mcc.com/Assets/SUMMARY/TP0629.html

Niemann-Pick disease DESCRIPTION: Sphingolipidosis due to sphingomyelinase deficiency with sphingomyelin accumulation in the reticuloendothelial system. There are 5 types (A, B, C, D, and E) with differing ages of onset and differing amounts of CNS involvement and sphingomyelinase activity. Genetics - autosomal recessive. Usual course - acute; chronic; progressive. CAUSES: sphingomyelinase deficiency Synonyms: sphingomyelin lipidosis sphingomyelinase deficiency ICD-9-CM: 272.7 Niemann-Pick disease Author(s): Mark R. Dambro, MD

80. Niemann-Pick Disease/Miglustat Miglustat is not currently licensed for use in niemannpick disease. Our searches for other research on miglustat for niemann-pick disease identified http://www.arif.bham.ac.uk/Requests/n/niemann-pickdisease.htm

Niemann-Pick Disease Miglustat Table of Contents The Problem Submitted For ARIF To Advise Upon Reviews Identified Comments Return to A-Z List of Requests for Information - Completed ... ARIF Home Page WARNING The information is only a very brief summary of that available at the time. It was primarily designed to give readers a starting point to consider research evidence in a particular area. Readers should not use the comments made in isolation and should read the literature suggested. Readers should also be aware that more appropriate evidence may have become available since the request was undertaken. ARIF does not routinely update the advice on these pages. The Problem Submitted For ARIF To Advise Upon What is the evidence on the effectiveness of miglustat for the treatment of Niemann-Pick disease? Back to the top Reviews Identified None. Trials Identified No published trials. Case Report Lachmann RH. te Vruchte D. Lloyd-Evans E. Reinkensmeier G. Sillence DJ. Fernandez-Guillen L. Dwek RA. Butters TD. Cox TM. Platt FM. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiology of Disease. 2004;16(3):654-8. Back to the top Comments There are no systematic reviews or published trial results on this topic.

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