101. Niemann-Pick Disease, Type C Information Diseases Database niemannpick Disease, Type C,niemann-pick Disease, Type D,Supraoptic vertical ophthalmoplegia,niemann-pick disease, Nova Scotian, Disease Database http://www.diseasesdatabase.com/ddb33390.htm

Diseases Database Index Sponsors Contact ... Previous Page Niemann-Pick Disease, Type C information Search 4 synonyms or equivalents were found. Niemann-Pick Disease, Type C aka/or Niemann-Pick Disease, Type D aka/or Supraoptic vertical ophthalmoplegia aka/or Niemann-Pick disease, Nova Scotian may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) No UMLS definitions. Niemann-Pick Disease, Type C: specific web sites Send Niemann-Pick Disease, Type C to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 13:44:12 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

102. Niemann-Pick Disease Like Gaucher s disease, niemannpick disease is a lysosomal storage disorder in which a missing enzyme prevents the metabolism of a certain compound that http://www.csmc.edu/5271.html

Home Medical Dictionary Contact Us About Us ... Niemann-Pick Disease Niemann-Pick Disease Like Gaucher's disease, Niemann-Pick disease is a lysosomal storage disorder in which a missing enzyme prevents the metabolism of a certain compound that then accummulates in the cells. Symptoms There are three types of this disease: Type A is a genetic disorder in which sphyingomyelin (ceramide phosphorylcholine) accumulates in cells of infants and young children. This condition causes the liver and the spleen to become enlarged and the child not to thrive. There is rapid degeneration of the nerves that leads to death by age two or three. Type B, like type A, is a genetic disorder in which sphyingomyelin accumulates in cells. A patient may develop fatty, irregular yellow patches or nodules on the skin of the eyelids, neck or back that is associated with disturbances in cholesterol metabolism. A patient may also have skin discoloration and enlarged liver, spleen and lymph nodes. However, persons with type B have little or no nerve involvement and survive into adulthood. Type C is caused by an error in cholesterol metabolism that results in unesterified cholesterol accumulating in cells. Its symptoms include variable enlargement of the liver and spleen, an increasing inability to control muscle movement, seizures, disordered muscle tone, dementia and sometimes fatal neonatal liver disease. It usually appears in late childhood with death in the patient's 20s. When it appears in adulthood it can produce psychosis and dementia.

103. Fundación Niemann Pick De España Translate this page Unión de los pocos casos que existen en España, para ayudar y ser ayudados en su cura, luchando por al menos dar a conocer su existencia. http://www.fundniemannpick.org/

Pulsar sobre "contenido" para acceder al menú Buscador: Bienvenido! Si tienes un familiar diagnosticado por ésta enfermedad, ponte en contacto con nosotros. Queremos ofrecerte información, nuestro cariño y la comprensión de quienes estamos afectados por ésta enfermedad y, lo más importante, nos hemos comprometido a trabajar para buscar soluciones, para conseguir pequeñas metas que alivien la situación de nuestras familias y favorezcan la investigación de esta enfermedad. Junto a nuestra Fundación, en éste Web puedes encontrar el enlace que necesites con los familias que residen en Argentina, Brasil, Chile, México, Costa Rica y Venezuela y cualquier otro país de habla hispana. También tenemos contactos con la Asociación Niemann Pick de Inglaterra, familias de Alemania, Francia y la Fundación de Estados Unidos Contacta con nosotros: Enviar e-mail Info@fundniemannpick.org www.vml-asso.org Asociación francesa que engloba las enfermedades raras (Francés) Firmado un Convenio de colaboración con el Excmo. Ayuntamiento de Estepa Este Convenio con tres años de duración permitirá financiar en parte el actual proyecto de investigación en curso en la Universidad de Barcelona, en su departamento de Genética Molecular. Corrida de toros pro Fundación La Fundación agradece profundamente la atención de Ayuntamientos de Cazorla, Quesada y Comarca de la Sierra del Segura y a los profesionales que hacen posible éste acontecimiento. Los fondos que se recauden se destinarán a la investigación de la enfermedad.

104. Niemann Pick Disease Niemann Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types http://webcenter.health.webmd.netscape.com/hw/brain_nervous_system/nord93.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 ... For a Complete Report 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.

105. Niemann Pick Type C International network. Founded 1992. Provides support for families affected by Niemann - Pick disease. http://webcenter.health.webmd.netscape.com/hw/brain_nervous_system/shc29nie.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 ... National Niemann-Pick Disease Foundation, Inc. Niemann Pick Type C National Niemann-Pick Disease Foundation, Inc. International network. Founded 1992. Provides support for families affected by Niemann-Pick disease. Promotes and supports research. Provides newsletter, family directory, networking, family conference, phone support, information and referrals. Dues $20. WRITE: National Niemann-Pick Disease Foundation P.O. Box 49 415 Madison Ave. Ft. Atkinson, WI 53538 CALL: 920-563-0930 FAX: 920-563-0931 E-MAIL: nnpdf@idcnet.com WEBSITE: http://www.nnpdf.org VERIFIED: 10/20/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

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108. Niemann Pick C1 Like 1 Antibodies Niemann Pick C1 Like 1 antibodies. Niemann Pick disease type C1 gene like 1, NPC1 LIKE 1, NPC1L1 splice variant, Tr Reacts with Human. http://www.abcam.com/?t=122290&pt=1&c=855

109. Hill Health Topics A-Z - Niemann Pick Disease Niemann Pick Disease. National Organization for Rare Disorders. Important It is possible that the main title of the report Niemann Pick Disease is not the http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord93&SEC

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