81. Niemann-Pick Medical Information niemannpick Information from Drugs.com. niemann-pick disease is caused by specific genetic mutations. The four forms of niemann-pick Disease are all http://www.drugs.com/enc/niemann_pick.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 Niemann-Pick Injury Disease Nutrition Poison ... Niemann-Pick foamy cells Niemann-Pick 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. Alternative Names Sphingomyelinase deficiency (type A Niemann-Pick disease) Causes All forms of Niemann-Pick are genetic diseases inherited in an autosomal recessive manner. Types A and B Niemann-Pick are both caused by deficiency of a specific enzyme, acid sphingomyelinase (ASM). If ASM is absent or not functioning properly, sphingomyelin cannot be broken down (metabolized) properly and accumulates within the cells, eventually causing cell death and the malfunction of major organ systems.

82. Niemann-Pick Diseases niemannpick Disease Group is a registered charity within the United Kingdom providing information and support to families and professionals worldwide http://omni.ac.uk/browse/mesh/D009542.html

low graphics Niemann-Pick Diseases other: Gaucher Disease Niemann-Pick Disease Group Niemann-Pick Disease Group 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 Web site contains access to the Groups newsletter, and a list of related groups worldwide. Niemann-Pick Diseases Great Britain Charities Last modified: 09 Sep 2005

83. Niemann-Pick B niemannpick B disease is an autosomal recessive genetic disorder that occurs in a higher incidence among the Ashkenazi Jewish population. http://www.genzyme.ca/thera/pickb/ca_en_p_tp_thera-pickb.asp

We have detected that your browser does not have Javascript turned on. This site is optimized for Javascript. You may experience difficulties browsing certain parts of the site. Genzyme Canada Inc. Home Genzyme Corporate Home Search Contact Us ... Diagnostic Treatments Niemann-Pick B Niemann-Pick B disease is an autosomal recessive genetic disorder that occurs in a higher incidence among the Ashkenazi Jewish population. The term "Niemann-Pick" refers to a group of diseases which affect metabolism and are caused by specific genetic mutations. The most commonly recognized forms of the disease are Types A & B. Niemann-Pick A & B is caused by the deficiency of a specific enzyme "acid sphingomyelinase" or ASM. This enzyme is ordinarily found in the compartments within cells called lysosomes. These lysosomes are required to metabolize a special lipid, called sphingomyelin. If the enzyme ASM is absent or not functioning properly it will not break down sphingomyelin and will accumulate within the cell. This accumulation will eventually cause cell death and lead to the malfunction of major organ systems. Patients who are diagnosed with Type B may survive into late childhood or adulthood but the enlargement of organs (liver and spleen) and respiratory problems associated with this disease can cause cardiovascular stress and can lead to heart disease later in life. Genzyme Canada is committed to provide support to patients and families of sufferers affected by this debilitating disease through education of healthcare providers and by developing treatments through new research to improve the overall quality of life those affected.

84. Niemann-Pick Disease : Epilepsy.com/Professionals Epilepsy and seizure diagnosis, treatment, and information for Professionals. http://professionals.epilepsy.com/page/inborn_npd.html

Search epilepsy.com/professionals: WHO IS EPILEPSY.COM DONATE PROFESSIONAL FORUM CO-EXISTING DISORDERS ... RESOURCE LIBRARY Niemann-Pick disease Co-Existing Disorders Metabolic Disorders Inborn errors Niemann-Pick disease Author: SC Schachter and MR Lopez Pathophysiology Niemann-Pick disease is an autosomal-recessive lipidosis in which sphingomyelin (i.e., ceramide phosphorylcholine) accumulates in the lysosomes of reticuloendothelial cells. Several types have been identified. Types A and B result from a deficiency of acid sphingomyelinase. Types C and D are characterized by abnormal cholesterol esterification and transport out of the lysosome. Clinical presentation Type C is most associated with seizures. Two subtypes of type-C Niemann-Pick disease have been identified based on the temporal sequence of neurologic events, neurophysiologic abnormalities, and longevity. Neonates with type-C Niemann-Pick disease may be jaundiced at birth. Slowly progressive neurologic deterioration begins within 2 years. Partial, generalized tonic-clonic and atonic seizures may occur and are usually refractory to antiepileptic drugs.

85. Niemann-Pick Disease - WI, Milwaukee WI niemannpick Disease - Columbia St. Mary s Community Physicians of Wisconsin, Milwaukee, Ozaukee and Washington County. http://www.columbia-stmarys.org/13627.cfm

Print 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 two or three. 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. Type D is now recognized as a variation of Type C. 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. MyDNA.com - Niemann-Pick Disease myDNA is a consumer focused health, genetics, and genomics information provider offering disease condition information, health wellness tips, http://www.mydna.com/genes/genetics/disorders/disease/nutritional/np.html

@import url(http://www.mydna.com/plone.css); @import url(http://www.mydna.com/ploneCustom.css); myDNA.com Search Yellow Pages News ... Diets Search For In Entire Site Articles News Images Advanced Search Home Genetics Center ... Nutritional and Metabolic Niemann-Pick Disease Page Tools Print This Page E-Mail This Page Add to Favorites Genetics Genetics News Ask Dr. DNA Top Tens Genetics 101 Genetic Testing Genetic Disorders Genes and Disease Blood Diseases Cancer Digestive System Ear, Nose and Throat Female-Specific Disease Glands and Hormones Heart and Blood Vessels Immune System Male Specific Disease Muscle and Bone Neonatal Diseases Nervous System Nutritional and Metabolic Respiratory Diseases Skin, Connective Tissue

87. Indian Pediatrics - Editorial niemannpick disease refers to a group of disorders that are clinically, Ultrastructural analysis of niemann-pick cells has not been reported from India http://www.indianpediatrics.net/sept2000/sept-1017-1020.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2000;37: 1017-1020 Niemann-Pick Disease: Ultrastructural Features P. Santhi N. Varma R.K. Marwaha* From the Departments of Hematology and *Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh 160 012, India. Reprint requests: Dr. R.K.Marwaha, Additional Professor, Department of Pediatrics, PGIMER, Chandigarh 160 012, India. Manuscript Received: September 7, 1999; Initial review completed: November 2, 1999; Revision Accepted: March 10, 2000 Niemann-Pick disease refers to a group of disorders that are clinically, biochemically and genetically heterogenous. The predominant phospholipid accumulated in this disorder is sphingomyelin(1). It is inherited as an autosomal recessive disorder. Niemann-Pick disease has been divided into two forms: Type-I is character-ized by severe sphingomyelinase deficiency and Type-II in which sphingomyelinase activity is normal or only moderately diminished(2). Each of this group has been further divided into three clinical forms: ( a ) Acute (presenting in early infancy), (

88. Expert - Niemann-Pick Disease Find Expert in niemannpick Disease Directory of Experts, Legal Consultants, Forensic Experts, and Litigation Support Services in niemann-pick Disease http://www.hgexperts.com/listing/Medical-Experts-Niemann-Pick-Disease.asp

MEDICAL EXPERTS EXPERT WITNESSES MEDICAL EXP. WITNESSES SPEAKER BUREAUS LEGAL CONSULTANTS Appraisal Banking Case Management Employment ... PROCESS SERVERS Medical Expert Niemann-Pick Disease Find experts, legal consultants, forensic experts, and litigation support services nationwide. Company Name Any word(s) in Description and Expertise State/Province Country Alabama Alaska Alberta Arizona Arkansas British Columbia California Colorado Connecticut Delaware District of Columbia Florida Georgia Guam Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Louisiana Maine Manitoba Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Brunswick New Hampshire New Jersey New Mexico New York Newfoundland North Carolina North Dakota Northwest Territory Nova Scotia Ohio Oklahoma Ontario Oregon Pennsylvania Prince Edward Island Puerto Rico Quebec Rhode Island Saskatchewan South Carolina South Dakota Tennessee Texas U.S. Virgin Islands Utah Vermont Virginia Washington West Virginia Wisconsin Wyoming Yukon Territory United States of America Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antigua Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia and Herzegovina Botswana Brazil British Virgin Islands Brunei Brunei Darussalam Bulgaria Burkina Faso Burma Burundi Cambodia Cameroon Canada Canary Islands Cayman Islands Central African Republic Chad Channel Islands Chile

89. Pulmonary Involvement In Niemann-Pick Type B Disease Alymlahi Elkhalil, Dafiri R J Postgrad Med, Online version this peerreviewed periodical, a publication of the Staff Society of Seth GS Medical College and KEM Hospital, India, http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2004;volume=50;issue=4

90. Niemann-Pick Disease National niemannpick Disease Foundation - The NNPDF provides education; Sites Search AltaVista for niemann-pick Disease Who to Contact National http://www.health-nexus.com/niemann-pick_disease.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Niemann-Pick Disease National Niemann-Pick Disease Foundation The NNPDF provides education; support for Niemann-Pick patients and families; and funds for research to battle Niemann-Pick Disease. Niemann-Pick Disease Group (UK) The Niemann-Pick Disease Group (UK) is a registered charity within the United Kingdom providing information and support to families and professionals worldwide ... Niemann-Pick disease ... from the National Institute of Neurological Disorders and Stroke, NIH. National Niemann-Pick Disease Foundation ... The NTSAD Diseases Family: Niemann-Pick Disease Niemann-Pick Disease IN 1914 ALBERT NIEMANN, A German pediatrician, described a young child with an enlarged liver and spleen ... The less common Niemann-Pick disease, Type B, a chronic non ... Niemann-Pick Disease Niemann-Pick Disease Who to Contact Where ... Sites Search AltaVista for "Niemann-Pick Disease" Who to Contact National Niemann-Pick Disease Foundation 3734 E. Olive Ave Gilbert ...

91. JAX®Mice Database - Mouse/Human Gene Homologs: Niemann-Pick Disease, Type C JAX®MICE Database Mouse/Human Gene Homologs niemann-pick disease, type C List. http://jaxmice.jax.org/jaxmicedb/html/model_1025.shtml

Strain Information Services Information JAX Mice Literature Order Mice ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: Niemann-Pick disease, type C" Strains Newly Available for all Mouse/Human Gene Homologs models. Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply BALB/cNctr- /J Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. C57BLKS/J- spm /J Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. (2 stocks) Back to top Back to Top Research Research Resources ... The Jackson Laboratory

92. New Page 1 Types A and B niemannpick are both caused by the deficiency of a specific Type A niemann-pick is a severe neurologic disease which generally leads to http://www.doucetfamily.org/interest/Niemann.htm

Items of Interest What is Niemann-Pick Disease? by National Niemann-Pick Disease Foundation Niemann-Pick Disease ("Niemann-Pick") is actually a term for a group of diseases which affect metabolism and whihc are caused by specific genetic mutations. The three most commonly recognized forms of the disease are Type A, B and C. Types A and B Niemann-Pick are both caused by the deficiency of a specific enzyme activity, acid sphingomyelinase (ASM). This enzyme is ordinarily found in special compartments within cells called lysosomes and is required to metabolize a special lipid, called sphingomyelin. If ASM is absent or not functioning properly, this lipid cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems. Types A and B are both caused by the same enzymatic deficiency and there is a growing concensus that the two forms represent opposite ends of a continuous scale. People with Type A generally have little or no ASM production (less than 1% of normal) while those with Type B have approximately 10% of the normal level of ASM. While both Type A and B hav ASM activity that is significantly lower than normal, the clinical prognosis for these two groups of patients is very different. Type A Niemann-Pick is a severe neurologic disease which generally leads to death by 2 or 3 years of age. It is believed that the majority of Niemann-Pick cases are Type A.

93. Encyclopædia Britannica familial disease niemannpick disease heredity niemann-pick disease metabolic disease niemann-pick disease. CURRENT SUBJECT. niemann-pick disease http://www.britannica.com/eb/subject?subjectId=152172

94. Niemann-Pick Disease --  Encyclopædia Britannica niemannpick disease inherited metabolic disorder in which a deficiency of the enzyme sphingomyelinase impairs the breakdown of the phospholipids lecithin http://www.britannica.com/eb/article?tocId=9055783

95. Niemann-Pick Disease - New Jersey niemannpick Disease - New Jersey - courtesy of Somerset Medical of Somerville, New Jersey. 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 two or three. 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. Type D is now recognized as a variation of Type C. 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.

96. SI.com - 2005 NCAA Football Preview - Parseghian's Granddaughter Dies Of Niemann Sixteenyear-old was victim of niemann-pick disease niemann-pick Type C affects about 500 children worldwide, and killed her brother Michael in 1997 and http://www.cnnsi.com/2005/football/ncaa/specials/preview/2005/08/08/ara.daughter

Kick off the NFL Season with SI's Team Package! Subscribe to SI Give a Back to School Gift THE WEB SI.com cnnWriteMenuEntries(cnnMenuEntries); var clickExpire = "09/7/2005"; Granddaughter of Parseghian dies Sixteen-year-old was victim of Niemann-Pick disease Posted: Monday August 8, 2005 5:00PM; Updated: Monday August 8, 2005 5:00PM TUCSON, Ariz. (AP) The granddaughter of former Notre Dame football coach Ara Parseghian, whose family raised millions of dollars to pay for research on Niemann-Pick disease, has died of the rare genetic disorder. Sixteen-year-old Marcia Parseghian died early Saturday. She was the longest surviving of three siblings all diagnosed with the rare and fatal disease. Niemann-Pick Type C affects about 500 children worldwide, and killed her brother Michael in 1997 and sister Christa in 2001. Her older brother, Ara, did not inherit the disease. Marcia Parseghian's parents, Mike and Cindy Parseghian, learned in October 1994 that three of their four children had the disease, and they quickly established the Ara Parseghian Medical Research Foundation to raise money for research on Niemann-Pick Type C. In 10 years, the foundation raised more than $22 million, with 95 percent of it going to fund research.

97. Niemann-Pick Disease Niemann Pick disease is a rare inherited degenerative nerve disease caused by the deficiency of an enzyme http://my.webmd.com/hw/health_guide_atoz/stn166088.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 Niemann-Pick disease Niemann-Pick disease is a rare inherited degenerative nerve disease caused by the deficiency of an enzyme (sphingomyelinase) that leads to the buildup of a fatty substance (sphingomyelin) in cells in the liver, spleen, lymph nodes, and bone marrow. Niemann-Pick disease is most commonly seen in families of Eastern European (Ashkenazi) Jewish heritage. At least five types of Niemann-Pick disease have been identified. The most common are type A and type B. Type A usually causes symptoms by 6 months of age. Symptoms may include feeding difficulty, vomiting, and abdominal distention from an enlarged spleen and liver. Some babies have a cherry-red spot in the membrane that lines the back of the eye (retina). Infections such as pneumonia are common and cause death in early childhood. Type B disease is a milder form that does not affect the brain. Children are usually diagnosed during early childhood because of enlargement of the liver or spleen. Teenagers with type B disease may have frequent lung infections. Most people with type B Niemann-Pick disease live into their 30s or 40s.

98. Npc1 - Niemann-Pick C1 Protein Precursor niemannpick type C (NPC) disease is a cholesterol lipidosis caused by mutations in niemann-pick disease type C ( NPC) is a lethal neurologic storage http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/123187.html

The results indicate that is associated with an unique vesicular compartment enriched with cholesterol and containing caveolin-1 , and that cycles to LAMP1-positive compartments, presumably to facilitate the processing of LDL-derived cholesterol Abstract-8394287 These results suggest that Purkinje cell loss in (-/-) mice does not proceed by an apoptotic pathway that can be inhibited by Bcl-2 or minocycline Abstract-9508220 To define further the relationship between caveolin-1 function and the cholesterol trafficking defect in NPC , we examined the expression and distribution of additional caveolar and signal transduction proteins Abstract-1772029 Here, we analyze the effects of genetically depriving NPC neurons of complex gangliosides by creating mice doubly deficient in both and the GSL synthetic enzyme, GM2/GD2 synthase GalNAcT Abstract-9952801 The npc-1 mouse is a valuable in vivo model for determining how and when becomes deregulated and whether inhibitors would be useful in blocking NPC neurodegeneration.

99. Show-documents.asp niemannpick Disease (NP) Written Information. Care Treatment. - niemann-pick Disease New Search Contact Us Disclaimer Send This Link http://www.clevelandclinic.org/health/search/do-query.asp?TopicId=1333

100. Niemann-Pick Disease niemannpick. niemann-pick disease. Nieman Pick Cell Marist College Academic Technology. Search with keyword(s) And Or Wildcard = * http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=530

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