21. HONselect - Niemann-Pick Diseases English niemannpick Diseases, - Classical niemann-pick Disease - Lipidosis, NeuronalCholesterol - niemann-pick Disease - Ophthalmoplegia, Supraoptic Vertical http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.475.600.600.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Niemann-Pick Diseases - Classical Niemann-Pick Disease - Lipidosis, Neuronal Cholesterol - Niemann-Pick Disease - Ophthalmoplegia, Supraoptic Vertical - Sphingomyelinase Deficiency Disease - Neimann-Pick Disease Français: NIEMANN-PICK, MALADIES Deutsch: Niemann-Pick-Krankheiten - Sphingomyelin-Phosphodiesterase - Klassische Niemann-Pick-Krankheit - Lipidose, neuronale Cholesterin- - Niemann-Pick-Krankheit - Ophthalmoplegie, supraoptische vertikale - Sphingomyelinase-Mangelkrankheit Español: ENFERMEDADES DE NIEMANN-PICK - ENFERMEDAD DE NIEMANN-PICK CLASICA - LIPIDOSIS DE COLESTEROL NEURONAL - ENFERMEDAD DE NIEMANN-PICK - OFTALMOPLEJIA SUPRAOPTICA VERTICAL - ENFERMEDAD POR DEFICIENCIA DE ESFINGOMIELINASA Português: DOENCAS DE NIEMANN-PICK - DOENCA DE NIEMANN-PICK CLASSICA - LIPIDOSE DE COLESTERAL NEURONAL - DOENCA DE NIEMANN-PICK - OFTALMOPLEGIA SUPRAOPTICA VERTICAL - DOENCA DA DEFICIENCIA DE ESFINGOMIELINASE HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français No Deutsch Yes Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.475.600.600.html

22. Niemann Pick Disease Although not widely known by the public and classified as rare by medical science,niemannpick Disease (NPD) Type C has been the subject of worldwide medical http://www.jacob-quinn.com/disease.htm

The Disease 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

23. Niemann-Pick, Maladies Sites Francophones Translate this page Logo CHU de Rouen, niemann-pick, maladies sites francophones. CISMeF. Voiraussi sphingomyèine phosphodiestrase Synonyme Niemann Pick, maladie. http://www.chu-rouen.fr/ssf/pathol/niemannpickmaladie.html

24. Niemann-pick, Maladies : Sites Et Documents Francophones Translate this page niemann-pick, Maladies. Menu général CISMeF. Arborescence(s) du thesaurusMeSH contenant le mot-clé niemann-pick, maladies niemann-pick diseases http://www.chu-rouen.fr/ssf/pathol/niemannpickmaladies.html

Niemann-pick, Maladies Menu général CISMeF Arborescence(s) Niemann-Pick, maladies Niemann-Pick diseases hémopathies et maladies lymphatiques maladies et malformations congénitales, héréditaires et néonatales métabolisme et nutrition, maladies système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : guide ressources Niemann-Pick A et B, maladie de - synonyme : sphingomyélinase, déficit en [Par Dr Till M, Dr Guffon N. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 1997 ; visité le : 23/04/2001]. mots clés : * Niemann-Pick, maladies Niemann-Pick, maladies diagnostic type(s) : guide ressources structure recherche texte association patients ... Niemann-Pick C, maladie de

25. The Genetic Leadership Collaborative niemannpick disease type B is panethnic; however, a higher incidence has beenfound among Ashkenazic Jews. Deficient enzyme acid sphingomyelinase. http://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 The GLC LSDs Research Living with LSDs ... Privacy Policy

26. Niemann-Pick Disease niemannpick disease. very rare abnormality of lipid metabolism; autosomalrecessive, 50% in Ashkenazi Jews. Erlenmeyer flask deformity. http://chorus.rad.mcw.edu/doc/00647.html

CHORUS Collaborative Hypertext of Radiology Multisystem entities Feedback Search Niemann-Pick disease very rare abnormality of lipid metabolism autosomal recessive, 50% in Ashkenazi Jews Erlenmeyer flask deformity DDx: Gaucher (bony infarcts, AVN Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

27. Niemann-Pick Translate this page P. Bauer et al. Genetische Organisation und polymorphe Loci des Kandidatengensder niemann-pick`schen Erkrankung Typ C (73. Jahrestagung http://neurologie.med.uni-rostock.de/Fors_Diag/Forschung/Neurobiologie/Lipidosen

DRG’s Leitlinien zurück Niemann-Pick National Institute of Neurological Disorders and Stroke Home Page National Niemann-Pick Disease Foundation, Inc. NPD-Selbshilfegruppe Deutschland NPC1 ist als Kandidatengen der autosomal rezessiven Niemann-Pickschen Erkrankung Typ C (NP-C) bekannt und ist in über 90% aller Erkrankungsfälle mutiert. Der ausgeprägteste zelluläre Phänotyp von NP-C ist die perinukleäre Akkumulation von unverestertem Cholesterol und ein verzögertes Ansprechen Cholesterol-responsiver Stoffwechselwege auf exogen zugeführtes Cholesterol. Die Analyse eines wahrscheinlichen Signalpeptides und transmembranöser Domänen von NPC1 unterstützt die Hypothese, daß NPC1 im Golgi-Apparat, Endoplasmatischen Retikulum oder der Plasmamembran lokalisiert sein muß. Immunzytochemische Untersuchungen an Fibroblasten zeigen, daß eine distinkte Organelle, welche das NPC1 Protein enthält, den Transport lysosomaler Bestandteile zu anderen Zellkompartimenten leistet. Dieser Stoffwechselweg ist nicht auf Cholesterol beschränkt. Dabei spielt das Signalpeptide der N-terminalen Region eine kritische Rolle bei Mobilisation von Cholesterol aus den Lysosomen. Bislang sind ein knappes Dutzend Mutationen im NPC1 Gen bei NP-C Patienten beschrieben worden.

28. Therapeutics - Niemann-Pick Type C niemannpick DISEASES. niemann-pick disease type C is caused in 95% of casesby a mutation to the NPC1 gene, now known to be on chromosome 18. http://www.ogs.com/gl_gsd_niemann-pick_type_c.asp

NIEMANN-PICK DISEASES Niemann-Pick disease type C is caused in 95% of cases by a mutation to the NPC1 gene, now known to be on chromosome 18. The gene has only recently been identified, and the product that it encodes has not yet been identified. However, it is known that the defect results in impaired cholesterol transport, and there is therefore an accumulation of cholesterol, as well as glycolipids. Accumulated glycolipids are observed in the brain, whereas cholesterol and levels of other lipids can be raised in the liver and spleen. The clinical features of the disease vary greatly. The disease primarily occurs in young children and results in progressive brain pathology. This may be accompanied by progressive ataxia, dystonia and psychiatric illness. Individuals often do not survive beyond their teenage years or early adulthood. Patients often also have hepatomegaly, with or without spleen enlargement. There is no definitive diagnostic test for Niemann-Pick type C, but many patients have vertical supranuclear gaze palsy, a difficulty in moving the eyes to look up and down. There is currently no specific treatment available for the condition, but a number of symptomatic therapies are helpful in managing the disease.

29. Niemann-Pick Disease Group (UK) meetings. First International Conference on niemannpick Disease TypeC 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!

30. Niemann-Pick Disease Library M N. niemann-pick Disease. National niemann-pick Disease Foundation3734 E. Olive Ave Gilbert, AZ Phone (602) 497-6638 Fax (602) 497-6346. http://www.familyvillage.wisc.edu/lib_np.htm

Niemann-Pick Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Niemann-Pick Disease" Who to Contact National Niemann-Pick Disease Foundation 3734 E. Olive Ave Gilbert, AZ Phone (602) 497-6638 Fax (602) 497-6346 National Niemann-Pick Disease Foundation (NNPDF) gives emotional support, provides assistance through a crisis, shares resources and ideas about such issues as doctors, clinics, insurance companies and other health and human service programs. They provide practical suggestions about day-to-day care of the children, and establish relationships with others who, on a personal level, understand both the anguish and the recovery of being a parent of a dying child. NNPDF provides parent-to-parent matching through membership, families are listed in a directory which is distributed annually. There is a new family packet that includes brochures, fact sheets, and family "care" information. There is also a list of organizations that can be helpful resources. NPD publishes the Niemann-Pick Newsletter , three times a year that is included in the annual membership. Also available are videos on the family conferences at a cost of $5.00 dollars to cover price of video and postage.

31. Niemann-Pick Disease niemannpick disease. Click Here. A B C D E F G H I J K L M N O PQ R S T U V W X Y Z Books Credits. An inherited disorder of lipid http://www.webref.org/psychology/n/niemann-pick_disease.htm

Niemann-Pick disease $50 Cash Back on Cell Phones An inherited disorder of lipid (fat) metabolism that produces mental retardation and paralysis, and brings early death. Questia - The Online Library Back Next naloxone naltrexone ... nicotine Niemann-Pick disease nitrous oxide nomenclature nomothetic approach nomothetic [context] ... Tabularium™ WebRef™ Search WWW Search webref.org Digital River: Get amazing deals on great software! Iverson Software Co., 506 Genesis Ave., Marshall MN 56258-3110 Email WebMaster PRIVACY POLICY This site hosted by EASY CGI Web Hosting

32. Niemann-Pick B niemannpick B. niemann-pick B disease is an autosomal recessive genetic disorderthat 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. var SA_ID="genzyme;genzyme"; 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.

33. À Propos De La Maladie De Niemann-Pick De Type B Translate this page À propos de la maladie de niemann-pick de type B. La maladie de niemann-pickde type B est une maladie génétique transmise sur http://www.genzyme.ca/thera/pickb/ca_fr_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. var SA_ID="genzyme;genzyme"; Page d’accueil de Genzyme Canada Inc. Page d’accueil de Genzyme Recherche Pour nous joindre ... Traitements diagnostiques RENSEIGNEMENTS : Genzyme Canada Bureau canadien 2700 Matheson Blvd. East East Tower, Suite 800 Mississauga (Ontario) L4W 4V9 Canada N o N o N o Conditions générales d’utilisation Politique de confidentialité

34. Support Niemann-Pick Type C (NP-C) Disease Research At HelpKevin.org Kevin needs your help. niemannpick Type C. Sadly, Kevin suffers from a verycruel and fatal children’s disease called niemann-pick Type C (NP-C). http://www.helpkevin.org/

Mommy and Kevin Kevin needs your help Kevin Needs Your Help! And a lot of other children like Kevin. Why does Kevin need your help? Sadly, Kevin suffers from a very cruel and fatal children’s disease called Niemann-Pick Type C (NP-C) What is Niemann-Pick Type C (NP-C)? Niemann-Pick Type C is a neurodegenerative disease that primarily strikes children in their early childhood years with death occurring before or during adolescence. Happy and healthy children in their early childhood begin to suffer from a painful and gradual neurological decline because of damage to the brain as result of the body’s inability to metabolize cholesterol. Early symptoms of NP-C are frequent falls, balance problems, loss of vertical eye movements, slurred speech, and learning difficulties. As the disease progresses, seizures begin, children lose their motor skills, eyesight and hearing, as well as the inability to swallow, and ultimately - death This life-robbing disease is not only painful for these children, but also their parents who experience a tremendous heartbreak as they watch their children slowly decline both physically and mentally. No child should have to suffer from such pain. Although children worldwide are afflicted, research has been extremely limited primarily because of insufficient funding due to a smaller population of children affected and lack of public knowledge. Currently, there is no cure or treatment for NP-C.

35. Support Niemann-Pick Type C Research(NP-C)-Kevins Photo Album Home United Airlines How Can I Help? Links. Welcome to Kevin's PhotoAlbum. Click on the picture to view the full size image. Kevin http://www.helpkevin.org/photos.htm

Welcome to Kevin's Photo Album. Click on the picture to view the full size image.

36. Jolynne's Web Site - About Niemann-Pick About niemannpick. Infantile, or Type A, niemann-pick Disease occurs mostfrequently and it accounts for about 85% of all cases of the disease. http://www.type40.com/Jolynne/niemann-pick01.html

37. Pick Project - David Pearce Lab Page niemannpick C Project The Disease. niemann-pick Type C (NP-C) is aninherited disease that causes enlargement of the liver and spleen http://dbb.urmc.rochester.edu/labs/pearce/pick_project.html

More Faculty Profiles Return to Research Areas Pearce Lab Graduate Program Information My Contact Information Pick Project Lab Members Publications Faculty Page Batten Pubs (other researchers) ... Batten Links Niemann-Pick Project Job Opportunities Niemann-Pick C Project The Disease For more information on Niemann-Pick type C, please visit these pages: Ara Parseghian Medical Research Foundation http://www.parseghian.org/apmrfweb/ National Institute of Neurological Disorders and Stroke NP-C page http://www.ninds.nih.gov/health_and_medical/disorders/niemann.doc.htm History of the disease and good general information http://www.ntsad.org/pages/n-pick.htm Details on Niemann Pick C Research The gene corresponding to the remaining 5% of cases of NP-C was recently identified as HE1/NPC2, a 132 amino acid glycoprotein (Naurekiene et al, 2000). NPC2 is a 14.5 kD soluble lysosomal protein that had previously been shown to bind cholesterol (Baker et al, 1993; Okamura et al, 1999). Misfunction of NPC2 causes the NP-C hallmark of accumulation of unesterified cholesterol in late-endosome/lysosomes (Naurekiene et al, 2000) although the primary function of this ubiquitously expressed gene remains unknown.

38. UCSF-Stanford Lysosomal Disease Center Overview. niemannpick disease (pronounced knee-man pick ) or NPDaffects about 1 in 40,000 people of all ethnic backgrounds. There http://www.som.ucsf.edu/departments/lysosomal/niemann/

Overview Inheritance Symptoms Liver and Spleen Lungs Testing Treatment ... Resources Overview Niemann-Pick disease (pronounced "knee-man pick") or NPD affects about 1 in 40,000 people of all ethnic backgrounds. There are at least four types of NPD, called types A, B, C, and D. Types A and B NPD are caused by an absence or shortage of the enzyme acid sphingomyelinase ("ah-sid s-fing-o-my-lin-aze") or ASM, which normally breaks down sphingomyelin ("s-fing-o-my-eh-lin"), a component of cell membranes. This chemical breakdown happens inside of the lysosomes of the body's cells. If the ASM enzyme is absent or in short supply, the sphingomyelin cannot be broken down. Instead, sphingomyelin builds up in the lysosomes of cells in the liver, spleen, and bone marrow. These enlarged cells are called Niemann-Pick cells. The build-up of sphingomyelin results in the symptoms of type A and type B NPD. Type A NPD is the most common type of NPD and makes up about 85% of all NPD cases. People with type A NPD have onset of the disease in early infancy and undergo progressive brain degeneration, resulting in death usually by age 2 or 3. Failure to thrive (extremely poor growth) and hepatosplenomegaly (enlarged liver and spleen) are also seen in type A NPD. The symptoms of type B NPD usually appear in infancy or childhood and may vary somewhat from person to person. These symptoms include: enlargement of the liver and spleen, lung disease and susceptibility to lung infections, and occasionally a cherry red spot on the macula (an abnormal red coloration in the center of the retina, the layer of the eye which receives images and transmits them to the brain). Lifespan in people with type B NPD is variable, with many people surviving into adulthood. Type B NPD is sometimes called the non-neuronopathic form of NPD, since (unlike the other types of NPD) it generally does not affect the brain.

39. What Is Niemann Pick Disease Brief description of niemannpick Type C Disease What is niemann-pick Disease?niemann-pick Disease is a genetic disorder that constitutes http://www.niemann-pick.freeserve.co.uk/description.htm

Brief description of Niemann-Pick Type C Disease What is Niemann-Pick Disease? Niemann-Pick Type C Disease What are the signs and symptoms of Niemann-Pick Type C? How is NPC Diagnosed? ... Home What is Niemann-Pick Disease? Niemann-Pick Disease is a genetic disorder that constitutes of a group of rare, inherited metabolic diseases that occur most frequently in children but can also affect adults. The three most commonly recognised forms are types A, B and C. Elliott is affected with Niemann-Pick Type C. Back to top Niemann-Pick Type C Disease In learning about NP-C, you need to realise that it is not the same disorder as Niemann-Pick Disease Types A or B. In types A and B the principle problem in the body is a deficiency of an enzyme called "sphingomyelinase" which breaks down a fatty material called "sphingomyelin". When sphingomyelin cannot be broken down in types A and B it is stored in various organs of the body. In contrast, cholesterol is the principal material being stored in NP-C, rather than sphingomyelin. Cholesterol inside cells is normally used either to build the cell, or is bound in a form called ester. In the case of an individual with NP-C, there are great amounts of cholesterol that are not used as a building material and do not form esters. This cholesterol accumulates within the cells throughout the body, but especially in the spleen, the liver, the bone marrow and the central nervous system. It is believed that the accumulation of cholesterol is responsible for the development of the clinical symptoms.

40. Elliott Lister, Niemann-Pick Type C Disease niemannpick Type C Disease. He did pull through and when he was just over eightmonths old, his diagnosis was confirmed as niemann-pick Type C Disease (NPC). http://www.niemann-pick.freeserve.co.uk/

Free search engine submission and placement services! Elliott Lister Niemann-Pick Type C Disease Welcome you are visitor number FastCounter by LinkExchange Who is Elliott Lister? Elliott was born on the 17th September 1994 as a normal happy baby. When he was only one month old, it was apparent that he had a very serious problem. He was always a hungry child that finished a bottle at every feed, but he failed to thrive. He also had a severe case of jaundice that would not fade. After about a month he was admitted to Hull Royal Infirmary for investigation into his jaundice and his failure to thrive. They were not able to determine the reason for his condition so he was referred to Kings College Hospital in London for investigation into possible liver complications. They too, were unable to diagnose the condition that Elliott had at first, but they did continue to investigate. Every other week from October 1994 to March 1995, he was admitted to Kings' for further tests to find a diagnosis for his deteriorating condition. When he was three months old on Boxing Day 1994, he was so critically ill that he was admitted to hospital and it was feared that he would not survive the week. He did pull through and when he was just over eight months old, his diagnosis was confirmed as

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