81. Blackwell Synergy - Cookie Absent Seven Novel Acid Sphingomyelinase Gene Mutations in niemannpick Type A and B Patients. , Elleder, M. 1989 niemann-pick disease. http://www.blackwell-synergy.com/links/doi/10.1046/j.1469-1809.2003.00009.x/enha

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82. Jewish Genetic Diseases Program - What Is A Jewish Genetic Disease niemannpick Disease. niemann-pick DISEASE refers to a group of neurodegenerative disorders. niemann-pick Type A is caused by an enzyme deficiency. http://www.sbhcs.com/genetics/offer/nie.html

83. Niemann-Pick Disease (NPD) Type A - DNA Analysis niemannpick DISEASE (NPD) TYPE A DNA ANALYSIS See also Sphingomyelinase - Biochemical Analysis. http://www.bcmgeneticlabs.org/tests/dna/niemannpick.html

NIEMANN-PICK DISEASE (NPD) TYPE A DNA ANALYSIS See also: Sphingomyelinase - Biochemical Analysis Open Page in New Window Print This Page Return to Search Niemann-Pick disease (NPD) type A is an autosomal recessive genetic disorder manifesting as a neurodegenerative disease occurring in infancy. A deficiency of acid sphingomyelinase (ASM) results in the accumulation of sphingomyelin in lysosomes which produces the clinical phenotype with multiple organ involvement including the central nervous systems. The gene encoding ASM has been isolated and mapped to the chromosomal location 11p15.1-15.4. Three mutations in the ASM gene are responsible for the majority (approximately 92%) of mutations leading to NPD type A in the Ashkenazi Jewish population. The carrier frequency and disease incidence have been estimated at about 1 in 100 and 1 in 40,000, respectively, among Ashkenazi Jews. In the absence of a family history of NPD, a negative test result lowers the carrier risk of an Ashkenazi Jewish individual from 1 in 100 to approximately 1 in 1240. This test in not recommended for individuals who are from other ethnic backgrounds. Niemann-Pick disease testing is also available through biochemical analysis (see Sphingomyelinase Reasons for Referral: Carrier identification Prenatal diagnosis - For pregnancies at 25% risk. Both DNA and Biochemical testing are recommended for optimal accuracy in these fetal diagnosis.

84. Qango : Health: Diseases And Conditions: N: Niemann-Pick Disease Home Health Diseases and Conditions N niemannpick Disease, Suggest a Site. Health, etc. If you would like to suggest a site http://www.qango.com/dir/Health/Diseases_and_Conditions/N/Niemann-Pick_Disease/

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85. Niemann-Pick Disease Diseases, Conditions and Injuries. niemannpick Disease. niemann-pick disease refers to a group of inherited conditions that affect the body’s metabolism. http://www.somersetmedicalcenter.com/1623.cfm

Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries Niemann-Pick Disease by Debra Wood, RN Definition Causes Risk Factors ... Organizations Definition Niemann-Pick disease refers to a group of inherited conditions that affect the body’s metabolism. In patients with this rare disorder, fatty material builds up in various vital organs, sometimes including the brain. There are four main types of Niemann-Pick disease: Type A – causes fatty substances to collect in the liver and spleen. Patients have severe brain damage and usually die by age 2 or 3. Type B – affects the liver and spleen. Organs enlarge during the pre-teen years. There is usually no brain damage. Patients usually suffer from breathing problems and die in teen years or early adulthood. Type C – produces extensive brain damage. The liver and spleen are moderately enlarged. Usually starts in childhood and leads to death in teen years or early adulthood. Type D – similar to type C, but occurs only in people related to a family that lived in Nova Scotia at the start of the 1700s. Causes Niemann-Pick disease is inherited. It is an autosomal recessive trait, which means that both parents must carry the abnormal gene for their child to inherit the disease. The exact cause depends on the type of Niemann-Pick disease.

86. The Genetic Leadership Collaborative niemannpick disease type B is panethnic; however, a higher incidence has been found among Ashkenazic Jews. Deficient enzyme acid sphingomyelinase. http://www.geneticleadership.com/lsds/niemann-pick_profile.asp

LSDs Profiles Niemann-Pick disease type B Niemann-Pick disease type B is panethnic; however, a higher incidence has been found among Ashkenazic Jews. Deficient enzyme: acid sphingomyelinase Etiology: Deficiency of acid sphingomyelinase results in accumulation of sphingomyelin in cells throughout the body. Pathogenesis: Clinical Description: Sphingomyelinase deficiency causes progressive accumulation of sphingomyelin in organs such as the liver, spleen, and brain cause. Niemann-Pick Type B generally causes little or no neurologic involvement. Signs and Symptoms: Inheritance pattern: autosomal recessive Treatment: symptom management var SA_ID="genzyme;genzyme"; The GLC LSDs Research Living with LSDs ... Privacy Policy

87. SMPD1 CM023128, 21, aCAATAA, Gln-Term, niemann-pick disease, 1. CM023129, 49, GAC-GTC, Asp-Val, niemann-pick disease, 1. CM023130, 92, TGCa-TGG, Cys-Trp, niemann-pick disease, 1. http://archive.uwcm.ac.uk/uwcm/mg/ns/1/128144.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference aCAA-TAA Gln-Term Niemann-Pick disease GAC-GTC Asp-Val Niemann-Pick disease TGCa-TGG Cys-Trp Niemann-Pick disease CTC-CCC Leu-Pro Niemann-Pick disease cTGT-CGT Cys-Arg Niemann-Pick disease TGGa-TGA Trp-Term Niemann-Pick disease tGCC-CCC Ala-Pro Niemann-Pick disease cCGC-TGC Arg-Cys Niemann-Pick disease aCTG-ATG Leu-Met Niemann-Pick disease cCGC-TGC Arg-Cys Niemann-Pick disease GGC-GAC Gly-Asp Niemann-Pick disease cGGA-AGA Gly-Arg Niemann-Pick disease gGGC-AGC Gly-Ser Niemann-Pick disease AGCa-AGA Ser-Arg Niemann-Pick disease cAGC-CGC Ser-Arg Niemann-Pick disease A gGAG-TAG Glu-Term Niemann-Pick disease TTG-TAG Leu-Term Niemann-Pick disease CGT-CAT Arg-His Niemann-Pick disease cCAA-AAA Gln-Lys Niemann-Pick disease CTT-CCT Leu-Pro Niemann-Pick disease cCAT-TAT His-Tyr Niemann-Pick disease A aCCT-GCT Pro-Ala Niemann-Pick disease CCC-CGC Pro-Arg Niemann-Pick disease CTC-CCC Leu-Pro Niemann-Pick disease GCC-GAC Ala-Asp Niemann-Pick disease cCCA-TCA Pro-Ser Niemann-Pick disease B CGC-CAC Arg-His Niemann-Pick disease CGC-CTC Arg-Leu Niemann-Pick disease cTCT-CCT Ser-Pro Niemann-Pick disease ATGa-ATA Met-Ile Niemann-Pick disease AAT-AGT Asn-Ser Niemann-Pick disease AAC-ACC Asn-Thr Niemann-Pick disease cTGG-GGG Trp-Gly Niemann-Pick disease GCT-GTT Ala-Val Niemann-Pick disease gCAT-TAT His-Tyr Niemann-Pick disease cTGT-CGT Cys-Arg Niemann-Pick disease CTG-CCG Leu-Pro Niemann-Pick disease

88. Niemann-Pick Disease Group (UK) meetings. First International Conference on niemannpick Disease Type C The National Institutes of Health, Bethesda, Maryland, USA. http://64.77.54.174/npdg-uk/vol7-1/

The Neimann-Pick Disease Group (UK) is a registered charity within the United Kingdom providing information and support to families and professionals worldwide regarding all types of Niemann-Pick disease. The group provides a regular Newsletter and Telephone Helpline for members and families seeking assistance. In addition, the group sponsors an Annual Conference and Regional meetings. First International Conference on Niemann-Pick Disease Type C The National Institutes of Health, Bethesda, Maryland, USA. 14-17 October 1999 For further details please contact Susan on the Helpline 01592 580672 Contents Vol 7.1 Chairman's Chat Research Update Fund-raising Update Donations ... Links to Other Groups Telephone Helpline 01-592-580672 Susan Green, Family Support Co-ordinator Kingslaw House East Brae East Wemyss Fife KY1 4RS Scotland UK Email us at Niemann-Pick@zetnet.co.uk Links to Other Niemann-Pick Groups The Ara Parseghian Medical Research Foundation International Center for Types A and B Niemann-Pick Disease . Mount Sinai School of Medicine. Jacob's Reach National Foundation for Jewish Genetic Diseases National Niemann-Pick Disease Foundation . United States Niemann-Pick Type B Families Niemann-Pick Selbsthilfegruppe . Germany Research Breakthrough for Niemann-Pick Type B!

89. Welcome To AJC! niemannpick. Overview Symptoms Treatment Prevention. Alternative names Sphingomyelinase deficiency (type A niemann-pick disease). Definition http://www.ajc.com/search/healthfd/shared/health/adam/ency/article/001207.html

Main Contact us Edit profile Subscribe ... Register Now It's Free! Log in E-mail preferences Site Index Search: Site Yellow Pages Customer care ajc.com Nation/World Metro ... Personals ajc services Archives Advertise online Advertise in print Obituaries ... Sitemap Print edition Today This week A1 image E-mail News  Sign up for our  FREE newsletters: News Sports Business Travel Deals ... Logged in? ajc store Gifts Photos/pages Browser tip  Make ajc.com  your homepage: ajc guides Schools Visitors Illustrated Health Encyclopedia Important notice Ency. home Disease N Niemann-Pick Overview Symptoms Treatment Prevention Alternative names: Sphingomyelinase deficiency (type A Niemann-Pick disease) Definition: Niemann-Pick disease is caused by specific genetic mutations. The four forms of Niemann-Pick Disease are all characterized by an accumulation of sphingomyelin and cholesterol in cells, particularly in the cells of major organs, such as the liver and the spleen. The three most commonly recognized forms of the disease are Types A, B and C. Causes and Risks All types of Niemann-Pick are genetic diseases that are inherited in an autosomal recessive manner.

90. Jim Lambright Niemann-Pick Foundation http://www.lambrightfoundation.org/

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91. Niemann-Pick Disease In niemannpick disease, harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow and sometimes in the brain. http://www.einstein.edu/e3front.dll?durki=7175

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93. Fundación Niemann Pick De España Translate this page También tenemos contactos con la Asociación Niemann Pick de Inglaterra, familias de Alemania, Francia y la Fundación de Estados Unidos. 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 17 de febrero, día nacional de la enfermedad de Niemann Pick El 17 de Febrero de 2001 se constituyó nuestra Fundación y este mismo día fue presentada en acto público en la ciudad de Lledia, nuestra sede social. Esta fecha marcó el inicio de nuestra actividad fundacional. Celebrada la IV Conferencia familiar en Sevilla del 7 al 9 de Noviembre de 2003 La conferencia familiar ha sido reconocida de interés científico sanitario por la Consejería de Salud de la Junta de Andalucía.

94. Fundación Niemann Pick De España Translate this page recogen los acontecimientos más importantes que rodean la vida de la fundación 20/01/2004 17 de febrero, día nacional de la enfermedad de Niemann Pick El 17 http://www.fundniemannpick.org/es/3_es.htm

Noticias Noticias que recogen los acontecimientos más importantes que rodean la vida de la fundación 17 de febrero, día nacional de la enfermedad de Niemann Pick El 17 de Febrero de 2001 se constituyó nuestra Fundación y este mismo día fue presentada en acto público en la ciudad de Lledia, nuestra sede social. Esta fecha marcó el inicio de nuestra actividad fundacional. V Congreso Nacional de errores congénitos Las Dras. Mercé Pineda y M.J. Coll expondrán en el V Congreso Nacional de errores congénitos las conclusiones del Estudio genético realizado en pacientes de Niemann Pick, el próximo 5 de Noviembre en el Palacio de Congresos de Madrid. Más información en: http://www.tilesa.es/ecm2003 RESUMEN DE LO PRESENTADO EN EL CONGRESO Actualizacion en el diagnóstico de la enfermedad de Niemann-Pick tipo C. Estudios clínicos, bioquímicos y moleculares en la población española afecta Realizado por: E.M. Fernández (1), M. Pineda (2), C. Iturriaga (2), M.J. Coll (1) (1) Institut de Biquímica Clínica, (2) Hospital de Sant Joan de Déu, Barcelona Resumen sobre la II Conferencia Internacional de la Enfermedad de Niemann-Pick tipo C celebrado en Tucson (Arizona) Resumen elaborado por las doctoras Merçé Pineda (Hospital Sant Joan de Deu de Barcelona) y María José Coll (Instituto de Bioquímica Clínica de Barcelona), sobre la II Conferencia Internacional de Niemann-Pick tipo C, tras su celebración en Tucson (Arizona) los pasados días 29 al 31 de mayo.

95. Niemann Pick Disease Niemann pick disease,. Print this article, In Niemann Pick disease, five types of sphingomyelin lipidoses are recognized (Table 1). http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/NIEMANN PICK

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Niemann pick disease, (Albert Niemann, 18801921, German paediatrician and Ludwig Pick, 18681944, German physician), a rare genetic disorder characterized by widespread accumulation of sphingomyelin and other lipids in the reticuloendothelial and parenchymal cells of many organs. In Niemann Pick disease, five types of sphingomyelin lipidoses are recognized (Table 1). Niemann Pick disease, Table 1. Types of sphingomyelin lipiodosis in Niemann Pick disease. Type A: Acute neuronopathic form; a rapidly fatal disease of infancy with involvement of both viscera and nervous system Type B: Chronic form without nervous system involvement; visceral involvement in infants Type C: Subacute (juvenile) form; neurologic abnormalities in childhood, usually leading to death by adolescence Type D: Nova Scotia form; patients have an ancestry in Nova Scotia and findings resemble those in type C Type E: Indeterminate form; a disease of adults, with visceral involvement

96. Niemann Pick Disease Niemann pick disease,. Print this article, (Albert Niemann, 18801921, German paediatrician; Ludwig Pick 18681944, German pathologist http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/NIEMANN PICK DI

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Niemann pick disease, NW The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

97. NORD - National Organization For Rare Disorders, Inc. Niemann Pick Disease. To purchase fulltext report ($7.50) Copyright 1986, 1988, 1990, 1993, 1997, 1999, 2000, 2003 Synonyms of Niemann Pick Disease http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Niemann Pick

98. Niemann Pick Disease Niemann Pick Disease Important It is possible that the main title of the report Niemann Pick Disease is not the name you expected. http://my.webmd.com/hw/health_guide_atoz/nord93.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... 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 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 an inability to breakdown cholesterol, which results in abnormally excessive amounts of cholesterol accumulating in various organs of the body.

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