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         Niemann-pick:     more books (15)
  1. The Official Parent's Sourcebook on Niemann-Pick Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09
  2. 21st Century Ultimate Medical Guide to Niemann-Pick Disease - Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set) by PM Medical Health News, 2009-04-19
  3. Niemann-Pick disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Beatriz Vianna, Iuri Louro, 2005
  4. Niemann-Pick Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  5. Niemann-Pick disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Laith, MD Gulli, Tanya, BS Bivins, 2005
  6. Niemann?Pick Disease: Metabolic Disorders, Lysosomal Storage Disease, Ashkenazi Jews, Sphingolipidoses, Lipid Storage dDsorder
  7. Niemann-Pick: Webster's Timeline History, 1940 - 2007 by Icon Group International, 2010-05-28
  8. Lipid Storage Disorders: Tay-Sachs Disease, Niemann-Pick Disease, Type C, Sandhoff Disease, Gaucher's Disease, Niemann-pick Disease
  9. A Guide to ASMD Niemann-pick Types A and B: Understanding Acid Sphingomyelinase Deficiency Niemann-pick Disease Types A and B and Their Potential Treatment by J. Imrie, E. Wraith, et all 2010-09-10
  10. The Official Parent's Sourcebook on Niemann-Pick D by Icon Health Publications, 2002
  11. The Official Parent's Sourcebook on Niemann-Pick Disease: A Revised and Updated by Icon Health Publications, 2002-01-01
  12. Morbus Gaucher und die ihm ahnlichen Erkrankungen. (Die lipoidzellige Splenohepatomegalie Typus Niemann und die diabetische Lipoidzellenhyperplasie der Milz.) by Ludwig Pick, 1926-01-01
  13. Gale Encyclopedia of Medicine: Lipidoses by Altha Roberts Edgren, 2002-01-01
  14. Lipidoses: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Tish, A.M. Davidson, Altha Edgren, 2006

41. Niemann-Pick Disorder
niemannpick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs,
http://zevis11.tripod.com/niemann-pick/
document.isTrellix = 1; setAdGroup('67.18.104.18'); var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded"
Search: Lycos Tripod Free Games Share This Page Report Abuse Edit your Site ... Next Niemann-Pick Disorder Symptoms Detection and Treatment Research Further Information ... Bibliography My name is William, and my brother Jacob was born with Nieman-Pick disease. I love him dearly, and watching him struggle through this disease has been heartbreaking. No one should have to suffer like he has. Presently there is no direct cure for the disease, however with more research one will come. Founding for this research is greatly needed. I have therefore decided to educate the public about the disease in order that more people will donate money to the many foundations working towards a cure. Please take the time to read through this web site, and learn about this dreadful disease. Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. It is an

42. ► Niemann-Pick
A medical encycopedia article on the topic niemann-pick.
http://www.umm.edu/ency/article/001207.htm
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Niemann-Pick
Overview Symptoms Treatment Prevention 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, incidence, and risk factors: All types of Niemann-Pick are genetic diseases that are inherited in an autosomal recessive manner. Types A and B Niemann-Pick are both caused by the deficiency of a specific enzyme activity, acid sphingomyelinase (ASM). If ASM is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems. Type C Niemann-Pick is very different from types A and B. Patients with Type C are not able to metabolize cholesterol and other lipids properly. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. The defect in metabolism occasionally leads to a secondary reduction in ASM activity in some cells.

43. ► Niemann-Pick
A medical encycopedia article on the topic niemann-pick.
http://www.umm.edu/ency/article/001207prv.htm
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Niemann-Pick
Overview Symptoms Treatment Prevention Alternative Names:
Sphingomyelinase deficiency (type A Niemann-Pick disease)
Prevention: All types of Niemann-Pick are autosomal recessive. This means that both parents carry one copy of the abnormal gene, without having any signs of the disease themselves. In this state the parents are commonly called carriers. When both parents are carriers, there is a 1 in 4 chance that a child will be affected with the disease and 1 in 2 chance that a child will be a carrier. Carrier detection testing for all families is not yet reliable. The mutations for Types A and B have been extensively studied, particularly among the Ashkenazi Jewish population, and DNA tests for these forms of Niemann-Pick are available. Mutations have been identified in the DNA of many patients with type C Niemann-Pick disease carrier detection may be possible. Antenatal diagnosis (diagnosis in the fetus) of NPD is available in a limited number of centers. Carrier detection is possible for other families only after their specific mutation is identified.
Niemann-Pick foamy cells
Review Date: 1/8/2002
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

44. GeneReviews: Niemann-Pick Disease, Type C
Your browser does not support HTML frames so you must view niemannpick Disease, Type C in a slightly less readable form. Please follow this link to do so.
http://www.geneclinics.org/profiles/npc/
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45. Niemann-Pick Disease: Definition And Much More From Answers.com
niemannpick disease n. An inherited disorder of lipid metabolism characterized by gastrointestinal disturbances and enlargement and abnormalities of.
http://www.answers.com/topic/niemann-pick-disease
showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Medical WordNet Wikipedia Best of Web Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Niemann-Pick disease Medical Niemann-Pick disease
n. An inherited disorder of lipid metabolism characterized by gastrointestinal disturbances and enlargement and abnormalities of blood-forming organs; it occurs primarily in infants of eastern European Jewish descent and it leads to early death. Also called Pick's disease sphingomyelin lipidosis WordNet Note: click on a word meaning below to see its connections and related words. The noun Niemann-Pick disease has one meaning: Meaning #1 a disorder of lipid metabolism that is inherited as an autosomal recessive trait
Wikipedia
Niemann-Pick disease Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen liver lungs bone marrow , and brain Autosomal recessive inheritence There are four variants of Nieman-Pick disease based on the genetic cause and the symptoms exhibited by the patient. All variants are inherited in a

46. Introduction: Niemann-Pick Disease - WrongDiagnosis.com
Introduction to niemannpick disease as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis.
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Introduction: Niemann-Pick disease
Niemann-Pick disease: Genetic disease causing fatty deposits. Niemann-Pick disease: Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. Researching symptoms of Niemann-Pick disease: Further information about the symptoms of Niemann-Pick disease is available including a list of symptoms of Niemann-Pick disease , other diseases that might have similar symptoms in differential diagnosis of Niemann-Pick disease , or alternatively return to research other symptoms in the symptom center Misdiagnosis and Niemann-Pick disease: Research more detailed information about misdiagnosis of Niemann-Pick disease failure to diagnose Niemann-Pick disease , or research misdiagnosis of other diseases Treatments for Niemann-Pick disease: Various information is available about treatments available for Niemann-Pick disease current research about Niemann-Pick disease treatments , or research treatments for other diseases.

47. Article: NINDS Niemann-Pick Disease Information Page: NINDS - WrongDiagnosis.com
Medical article NINDS niemannpick Disease Information Page NINDS including all symptom, diagnosis, misdiagnosis, treatment and prevention information.
http://www.wrongdiagnosis.com/artic/ninds_niemann_pick_disease_information_page_
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NINDS Niemann-Pick Disease Information Page: NINDS
Article title: NINDS Niemann-Pick Disease Information Page: NINDS Main condition: Niemann-Pick Disease Conditions: Niemann-Pick Disease What is Niemann-Pick disease? Is there any treatment? There is currently no effective treatment for patients with type A. Bone marrow transplantation has been attempted in a few patients with type B, and encouraging results have been reported. Since type B resembles type 1 GaucherÂ’s disease to a considerable degree, one might anticipate that enzyme replacement, and ultimately gene therapy, will eventually be helpful for these patients. Patients with types C and D are frequently placed on a low-cholesterol dietary regimen, but its clinical benefit is not convincing. What is the prognosis?

48. Niemann-Pick Disease - Genetics Home Reference
Where can I find additional information about niemannpick disease? niemann-pick disease is an inherited condition involving lipid metabolism (the
http://ghr.nlm.nih.gov/condition=niemannpickdisease
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What is Niemann-Pick disease?
Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. This disorder is divided into four main types based on the genetic cause and the signs and symptoms exhibited by the patient. Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to thrive, and progressive deterioration of the nervous system. Children affected by this condition generally do not survive past early childhood. Type B disease may include signs of hepatosplenomegaly, growth retardation, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as abnormal cholesterol and lipid levels, and low numbers of blood cells involved in clotting (platelets). People affected by this type of Niemann-Pick disease usually survive into adulthood.

49. Niemann-Pick Disease
niemannpick Disease - information from the National Institute of Niemann Pick Disease Group (UK) - provides support and services for families and
http://www.ability.org.uk/Niemann_Pick_Disease.html
"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Niemann-Pick Disease National Niemann-Pick Disease Foundation, Inc. - Information educational, support and fund-raising organization. Niemann-Pick Disease - information from the National Institute of Neurological Disorders and Stroke. Niemann Pick Disease Group (UK) - provides support and services for families and patients. Jacob's Reach - Jacob is a young warrior in the fight against Niemann-Pick Disease Type C, a fatal genetic disorder Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

50. Atlas Of Pathology
niemannpick disease is due to the accumulation of sphingomyelin and cholesterol in cells throughout the body. It is most commonly due to a deficiency of
http://www.med.uiuc.edu/pathatlasf/Atlas26.html
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URBANA ATLAS OF PATHOLOGY
Image Number 26 - Spleen, Niemann-pick disease
Niemann-Pick disease is due to the accumulation of sphingomyelin and cholesterol in cells throughout the body. It is most commonly due to a deficiency of sphingomyelinase. Large foamy cells that have accumulated these lipids are seen throughout this slide. Click for image To Next Image To Table of Contents To Alphabetical Index To Start

51. Niemann-Pick Disease
Health care centre, teaching and research hospital Vancouver Hospital and Health Sciences Centre in British Columbia Canada.
http://www.vanhosp.bc.ca/html/wellness_amdc_findout_niemann.html

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52. AllRefer Health - Niemann-Pick (Sphingomyelinase Deficiency (Type A Niemann-Pick
niemannpick (Sphingomyelinase Deficiency (Type A niemann-pick Disease)) information center covers causes, prevention, symptoms, diagnosis, treatment,
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Alternate 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.
Niemann-Pick Foamy Cells All types of Niemann-Pick are genetic diseases that are inherited in an autosomal recessive manner.

53. AllRefer Health - Niemann-Pick Treatment (Sphingomyelinase Deficiency (Type A Ni
niemannpick (Sphingomyelinase Deficiency (Type A niemann-pick Disease)) information center covers Treatment.
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Alternate Names : Sphingomyelinase Deficiency (Type A Niemann-Pick Disease) Niemann-Pick Treatment For Types A and B Niemann-Pick the ASM gene has been isolated and extensively studied. DNA testing and prenatal diagnosis is currently available. Research into treatments for Types A and B NPD has progressed rapidly since the early 1990's. Mount Sinai School of Medicine is conducting research on bone marrow transplantation, enzyme replacement therapy, and gene therapy. All of these therapies have had some success against Type B Niemann-Pick in a laboratory environment. Unfortunately, none of the potential therapies has been effective against Type A. For Type C Niemann-Pick, no specific treatment is available. A healthy, low-cholesterol diet is recommended. However research into low-cholesterol diets and cholesterol-lowering drugs do not indicate that these halt the progress of the disease or change cholesterol metabolism at the cellular level. Additionally, many Type C symptoms, such as cataplexy and seizures, can be controlled or tempered by drugs.

54. Bipolar Disorder And Niemann-Pick Disease Type C SULLIVAN Et Al
niemannpick disease type C is an autosomal-recessive disorder of cholesterol Josephs KA, Van Gerpen MW, Van Gerpen JA Adult-onset niemann-pick disease
http://ajp.psychiatryonline.org/cgi/content/full/162/5/1021-a

55. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies:
Search results for niemannpick Disease ALL-FIELDS are shown below. Include trials that are no longer recruiting patients. 1 study was found.
http://www.clinicaltrials.gov/search/term=Niemann-Pick Disease
Home Search Browse Resources ... About Search results for Niemann-Pick Disease [ALL-FIELDS] are shown below.
Include trials that are no longer recruiting patients.
1 study was found. Recruiting Phase II Study of Allogeneic Bone Marrow or Umbilical Cord Blood Transplantation in Patients With Lysosomal or Peroxisomal Inborn Errors of Metabolism
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56. Niemann-Pick Disease
Article describes the types of niemannpick diseases, their treatments, and ongoing research.
http://rarediseases.about.com/cs/niemannpick/a/062503.htm
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57. Niemann-Pick Disease
Links to information and resources for niemannpick disease, a storage disorder.
http://rarediseases.about.com/cs/niemannpick/
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Guide picks Fatty deposits infiltrate the liver, spleen, lungs, lymph nodes, and bone marrow.
Niemann-Pick Disease

Article describes Niemann-Pick disease, its symptoms, and treatment. From the About.com Guide to Rare/Orphan Diseases. Jacob Quinn's Site
Personal site with information and links for Niemann-Pick disease. Lysosomal Diseases Australia Newsletter
News and information on storage diseases. Requires Adobe Acrobat Reader for PDF files. Lysosomal Storage Diseases Support Group
This group, based in New Zealand, provides information, newsletter, latest research, and links. National Neimann-Pick Disease Foundation
This site has information on education, research, advocacy, and offers support. National Tay-Sachs and Allied Diseases Association
Gives a disease profile, offers resources, services, and a reading list.

58. Ziekte Van Niemann-Pick
Met erfelijkheid heeft iedereen te maken. Het Erfocentrum heeft informatie voor mensen die meer willen weten over een bepaalde erfelijke ziekte of
http://www.erfelijkheid.nl/zena/niema.php

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B C D ... OVERIG
Ziekte van Niemann-Pick Synoniemen
Sfingomyeline Lipidose
Sfingomyelinase Deficiëntie Korte beschrijving
De ziekte van Niemann-Pick is een zeldzame erfelijke en aangeboren stofwisselingsziekte die valt onder de lysosomale stapelingsziekten. Lysosomale stapelingsziekten zijn aandoeningen waarbij er door een verandering in het erfelijk materiaal een stoornis is in de lysosomen. Lysosomen zijn kleine organen (organellen) in een cel, die met behulp van enzymen -enzymen begeleiden bepaalde chemische reacties- zorgen voor de afbraak en het hergebruik van veel stoffen. Het ontbreken of niet volledig functioneren van een van deze enzymen zorgt ervoor dat (afval)stoffen zich opstapelen in het lysosoom. Deze opeenstapeling is giftig voor de cel en bemoeilijkt daardoor het functioneren van het lysosoom, en uiteindelijk ook van de hele cel. Dit veroorzaakt ten slotte schade in weefsels en organen. Vanwege het ophopen van (afval)stoffen wordt over lysosomale stapelingsziekten gesproken. De ziekte van Niemann-Pick wordt veroorzaakt door het ontbreken van het enzym sfingomyelinase. Hierdoor ontstaat een stapeling van een bepaald type vetten, sfingolipiden, in verschillende organen. Er bestaan minstens vijf typen van de aandoening. Type A komt het meest voor. Symptomen zijn vergroting van de lever en milt, afwijkingen aan het centraal zenuwstelsel, en een vertraagde lichamelijke en verstandelijke ontwikkeling. Het opzetten van de buik, overgeven, diarree, koorts, en een bruin-gele verkleuring van de huid treden op rond zes maanden na de geboorte, waarna de aandoening langzaam verergert. De meeste kinderen met deze aandoening worden niet ouder dan drie jaar.

59. Niemann-Pick Disease | Www.somethingjewish.co.uk
The first case of infantileonset niemann-pick disease was described in 1914 by the Type B niemann-pick disease can also occur among Ashkenazi Jewish
http://www.somethingjewish.co.uk/articles/369_niemann_pick_disease.htm
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About Us Register with us Fun Stuff ... Suzie Gold Last Updated: >>More from SJ Health E-mail this to a friend Niemann-Pick Disease The first case of infantile-onset Niemann-Pick disease was described in 1914 by the German neurologist Albert Niemann. Subsequently, five subtypes have been identified, but only Type A is more frequent in Ashkenazi Jewish populations. Type A disease is a severe neurodegenerative disorder of infancy. By six months of age, affected babies experience feeding difficulty, recurrent vomiting and enlargement of the spleen and liver, which causes the abdomen to appear distended. Some have a characteristic "cherry-red spot" in the retina of the eye. Death usually occurs by two to three years of age, due to infections such as pneumonia. Type B disease is a milder disorder with no neurologic involvement. Affected individuals usually come to medical attention in childhood due to enlarged livers and spleens. With adolescence and adulthood the major symptoms are associated with pulmonary disease, due to involvement of the lungs. Patients with Type B disease may survive into the fourth and fifth decades of life. Type B Niemann-Pick disease can also occur among Ashkenazi Jewish individuals, but it is not as common as Type A Niemann-Pick disease in this group. The specific biochemical defect in both Types A and B Niemann-Pick disease is the deficiency of an enzyme, sphingomyelinase, which normally degrades a fatty substance known as sphingomyelin. The enzyme defect leads to the accumulation of sphingomyelin, primarily in the liver, spleen, lymph nodes, and brain. Individuals affected with Type A disease have little or no (0-5% of normal) sphingomyelinase activity, whereas persons with Type B have 5-10% of normal activity, thereby accounting for their milder manifestations.

60. Niemann-Pick Disease
niemannpick Disease Updated December 15, 2004. The Basics What is niemann-pick Disease? niemann-pick Disease Foundation More information grey line
http://www.noah-health.org/en/bns/disorders/neimann/
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Brain and Nervous System Change text size: Niemann-Pick Disease
Updated: August 11, 2005
The Basics
What is Niemann-Pick Disease?
National Niemann-Pick Disease Foundation
Diagnosis and Symptoms
What are the Signs and Symptoms of NPD?
National Niemann-Pick Disease Foundation
Genetics
How is NPD Transmitted?
National Niemann-Pick Disease Foundation Information Resources National Niemann-Pick Disease Foundation Researched by NOAH Contributing Editor: NOAH Team NOAH Brain and Nervous System Specific Nervous System Disorders > Niemann-Pick Disease Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

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