21. Niemann-Pick Disease niemannpick disease. Disease Type Lysosomal storage / LDL degradation. Aetiology. niemann-pick disease can be subdivided into A, B, and C types. http://www.diseasedir.org.uk/genetic/gene1801.htm

Niemann-Pick disease Disease Type: Lysosomal storage / LDL degradation. Aetiology Figure 18.01.01 - Normal LDL processing. LDL particle arrives at cell membrane and is brought into a 'coated pit', which closes in, to form an endosome. A lysosme then fuses with the endosome to form an endolysosome, lysosomes contain many different digestive enzymes, which break down the LDL particle into its constituent fats and amino acids. Niemann-Pick disease can be subdivided into A, B, and C types. NPA and NPB are caused by an error in acid sphingomyelinase (ASM). an enzyme involved in the breakdown of sphingolipids. ASM is found in lysosomes, and is directly involved in the breakdown of LDL particles. Niemann Pick Type C (NPC), is subdivided into two sub-types, NPC1, and NPC2. NPC1 has been linked to a gene on Chromosome 18, whereas NPC2 has been linked to a different gene on chromosome 14. NPC1, will be covered later. NPC2, is caused by a defect in a gene called HE1, HE1 encodes a membrane protein. Surprisingly, HE1 was first implicated in sperm maturation in the testis. However, it seems that HE1 has more body-wide roles. Symptoms NPA, and NPB:

22. NIEMANN-PICK DISEASE : Contact A Family - For Families With Disabled Children: I printer friendly, niemannpick DISEASE, Internet article. niemann-pick DISEASE GROUP (UK). niemann-pick disease Group (UK) 19 Downham http://www.cafamily.org.uk/Direct/n30.html

printer friendly NIEMANN-PICK DISEASE home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no There are a number of types of Niemann-Pick disease all of which are characterised by an accumulation of fats in the liver, spleen and bone marrow. Most types of Niemann-Pick disease involve progressive neurological deterioration. Both sexes are equally affected. The main types of Niemann-Pick disease are: Niemann-Pick Type A This acute form has an onset at one to two months and involves learning difficulties and failure to thrive. Life expectancy does not usually exceed 3 years. 40 per cent of those affected individuals are Ashkenazi Jews. Niemann-Pick Type B Onset of the condition manifests itself later. Enlargement of the spleen is usually a first sign of the condition with enlargement of the liver taking place later. Respiratory infections are common. Central nervous system disease is not associated with this form Niemann-Pick Type C Usually there is normal development until the age of about two, but often much later. Enlargement of the spleen is accompanied by progressive loss of speech and ataxia. A characteristic visual movement disorder - vertical supranuclear gaze palsy (VSGP) - is seen, and cataplexy and grand mal seizures may occur. Learning difficulties are progressive with a very varied life expectancy of between five and forty years before dementia leads to death. In about one third of patients significant neonatal liver disease occurs. This is often diagnosed as neonatal hepatitis (see entry

23. 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. http://www.med.uiuc.edu/pathatlasf/Atlas26.html

Back to Previous Page 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

24. Niemann-Pick Disease Page niemannpick disease. National niemann-pick Disease Foundation, Inc. niemann-pick Disease Foundation N1590 Fairview Lane Ft. http://www.kumc.edu/gec/support/niemann.html

Niemann-Pick disease National Niemann-Pick Disease Foundation, Inc. Niemann-Pick Disease Foundation N1590 Fairview Lane Ft. Atkinson, WI 53538 Phone: 920.563.8677 URL: http://www.nnpdf.org/ E-mail: webmaster@nnpdf.org Niemann-Pick Disease Group , United Kingdom Aide Aux Familles Niemann-Pick , France Niemann-Pick Selbsthilfegruppe , Germany Also See: National organizations , genetic conditions or birth defects resources National Organization for Rare Disorders, Inc. disease information Ara Parseghian Medical Research Foundation (former Notre Dame Coach), foundation for Niemann-Pick Type C Disease International Center for Types A and B Niemann-Pick Disease , Mount Sinai School of Medicine, New York National Foundation for Jewish Genetic Diseases , United States Jim Lambright Medical Research Foundation Niemann-Pick Type A and B Families , National Niemann-Pick Disease Foundation Help Kevin Jacob's Reach Aide aux Familles Niemann-Pick France Fight for Jessica Liscum Lab Niemann-Pick Pages LLiscum Niemann-Pick Type A University of Pittsburgh Niemann-Pick Description of NP and other disorders Niemann-Pick Types A and B OMIM database Niemann-Pick Type C , Online Mendelian Inheritance in Man (OMIM) Niemann-Pick Type D , Online Mendelian Inheritance in Man (OMIM) Niemann-Pick page , National Tay-Sachs and Allied Disease Association Inc.

25. NIEMANN-PICK DISEASE Features Listed For niemannpick DISEASE. McKusick Ataxia; Enlarged liver; Large spleen; Macular red spot; Pigmentary abnormality of macula; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1223

26. Niemann-Pick Disease Mitochodrial Disorders. niemannpick Disease. Phenylketonuria (PKU). Urea Cycle Defects. niemann-pick Disease. This area will soon contain updated information. http://www.vanhosp.bc.ca/html/wellness_amdc_findout_niemann.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Adreno-leukodystrophy ... Mitochodrial Disorders Niemann-Pick Disease Phenylketonuria (PKU) Prader-Willi Syndrome Urea Cycle Defects Niemann-Pick Disease This area will soon contain updated information. Some resources on Niemann-Pick Disease are listed below. http://www.ncbi.nlm.nih.gov/disease/Brain.html http://www.ninds.nih.gov/patients/disorder/niemann/niemann.htm http://www.nnpdf.org/ About VHHSC ... Employment Info

27. Niemann-Pick Diseases niemannpick Diseases. other Gaucher Disease. niemann-pick Disease Group. niemann-pick Disease Group is a registered charity http://omni.ac.uk/browse/mesh/C0028064L0028064.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: 27 May 2004

28. Home WHAT IS niemannpick DISEASE? Title Niemann Pick Disease Group (UK) Website. Copyright © 2003 Niemann Pick Disease Group (UK). http://www.niemannpick.org.uk/

History Management Sub committees Operations ... Donate Home WHAT IS NIEMANN-PICK DISEASE? The Niemann-Pick Diseases, in common with many other inherited diseases of the metabolism, are a source of great suffering and distress to individuals unfortunate to have inherited them and to their families. The diseases strike with devastating consequences and without warning, leaving families bewildered as to why this has happened to them. To add to their grief, the onset of disease symptoms is often delayed for many years and other children, born previously or subsequently, may also have inherited the disease. A great deal of research is taking place into the cause of the diseases, but currently there are no known effective treatments. The purpose of this website is to provide information about Niemann-Pick Diseases to affected families to assist them in understanding the cause of the disease and, hopefully, to relieve their distress and confusion in some small way. In addition the website aims to provide information to meet a wide range of enquiries from parents, affected individuals medical professionals, scientific investigators, fund raisers, grant providers, welfare groups and other interested parties. : Information which appears on this Website is for the express purpose of raising awareness and providing up to date information about Niemann-Pick disease. All medical information should be reviewed with your doctor before being acted upon.

29. Niemann-Pick Disease niemannpick Disease. National niemann-pick Disease Foundation, Inc. Niemann Pick Disease Group (UK) - provides support and services for families and patients. 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

30. Niemann-Pick Disease Definition Of Niemann-Pick Disease. What Is Niemann-Pick Di niemannpick disease. Noun, 1. niemann-pick disease - a disorder of lipid metabolism that is inherited as an autosomal recessive trait http://www.thefreedictionary.com/Niemann-Pick disease

Dictionaries: General Computing Medical Legal Encyclopedia Niemann-Pick disease Word: Word Starts with Ends with Definition Noun Niemann-Pick disease - a disorder of lipid metabolism that is inherited as an autosomal recessive trait inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism autosomal recessive defect autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body Legend: Synonyms Related Words Antonyms Some words with "Niemann-Pick disease" in the definition: autosomal recessive defect autosomal recessive disease Flang Floccillation ... To pick off Previous General Dictionary Browser Next Niebuhr niece Nief ... Nifle Full Dictionary Browser Niels Henning Ørsted-Pedersen (enc.) Niels Henrik Abel Niels Henrik Abel (enc.) Niels Henrik Bohr (enc.) Niels Henrik David Bohr Niels Henrik David Bohr (enc.) Niels of Denmark (enc.)

31. Disease - Niemann-Pick, North Carolina Disease niemann-pick. Definition niemann-pick disease is caused by specific genetic mutations. The four forms of niemann-pick http://www.uhseast.com/11657.cfm

Back Email Us Search Centers of Excellence ... Disease Management Disease - Niemann-Pick Niemann-Pick foamy cells 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 And Risk: 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.

32. 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 First Web Posting June '98 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

33. HONselect - Niemann-Pick Diseases English niemannpick Diseases, - Classical niemann-pick Disease - Lipidosis, Neuronal Cholesterol - 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 Yes Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.475.600.600.html

34. Niemann-Pick, Maladies : Sites Et Documents Francophones Translate this page niemann-pick, maladies. Menu général CISMeF. Arborescence(s) du thesaurus MeSH 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 : Qualificatifs : diagnostic 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 ; ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2003 ; visité le : 23/04/2001]. mots clés : incidence maladies rares Niemann-Pick, maladies Niemann-Pick, maladies ... signes et symptômes type(s) : * texte structure recherche association patients guide ressources ... Niemann-Pick C, maladie de

35. Niemann-Pick, Maladies : Arborescences MeSH Translate this page niemann-pick, maladies arborescences MeSH. Menu général CISMeF. Vous pouvez aussi consulter toutes les arborescences des mots http://www.chu-rouen.fr/navimesh/N/naviniemannpickmaladies.html

Niemann-Pick, maladies : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF système nerveux, maladies système nerveux central, maladies encéphalopathies encéphalopathies métaboliques ... Niemann-Pick, maladies 07 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

36. Niemann-Pick Disease - Information / Diagnosis / Treatment / Prevention home nutrition and metabolism disorders cholesterol and other fats niemannpick niemann-pick. Information • Diagnosis • Treatment • Prevention. http://www.healthcyclopedia.com/nutrition-and-metabolism-disorders/cholesterol-a

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... cholesterol and other fats > niemann-pick Niemann-Pick Disease Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Genetic Disorders Neurological Disorders/Brain Diseases/Metabolic Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "Niemann-Pick disease" Health News: Search millions of published articles for news on Niemann-Pick Disease Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Ara Parseghian Medical Research Foundation About this foundation whose goal is to find a cure for the devastating Niemann-Pick Type C disease. International Center for Types A and B Niemann-Pick Disease Provides information on the prevention and treatment of this disorder for patients, physicians and scientists.

37. Niemann-Pick Disease niemannpick Disease. National worldwide niemann-pick disease - from the National Institute of Neurological Disorders and Stroke, NIH. http://www.health-nexus.com/niemann-pick_disease.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site 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 ...

38. Short Description Of Cell Lines. Pathology: Niemann-Pick Disease, Type A *257200 Version 4.200205, Short description of cell lines. Pathology niemannpick disease, type A *257200 OMIM record. - By selecting the http://www.biotech.ist.unige.it/cldb/pat196.html

Version Short description of cell lines. Pathology: Niemann-Pick disease, type A OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian fibroblast MIECC human, Caucasian ... By Beatrice...

39. Short Description Of Cell Lines. Pathology: Niemann-Pick Disease, Type C *257220 Version 4.200205, Short description of cell lines. Pathology niemannpick disease, type C *257220 OMIM record. - By selecting the http://www.biotech.ist.unige.it/cldb/pat122.html

Version Short description of cell lines. Pathology: Niemann-Pick disease, type C OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM human, Caucasian ... By Beatrice...

40. AJRCCM -- Year In Review : Niemann-Pick Disease niemannpick Disease. niemann-pick disease is a lipid storage disorder caused by a lack or deficiency of acid sphingomyelinase. Patients http://ajrccm.atsjournals.org/cgi/collection/yir314

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH RESULT Niemann-Pick Disease Niemann-Pick disease is a lipid storage disorder caused by a lack or deficiency of acid sphingomyelinase. Patients with Type B disease often survive into adulthood and can develop progressive pulmonary infiltrates. Nicholson and coworkers   describe a patient who presented with extensive endogenous lipoid pneumonia and severe hypoxemia after cardiac surgery. Bilateral whole lung lavage produced a decrease in the pulmonary infiltrates and an increase in P O of 15 mm Hg while breathing room air. The authors conclude that whole-lung lavage may be useful in treating pulmonary involvement caused by Neimann-Pick Type B disease. Download a PDF version of the entire Year in Review article from which these summaries are taken. 1 Citation displayed. Successful Treatment of Endogenous Lipoid Pneumonia due to Niemann-Pick Type B Disease with Whole-Lung Lavage ANDREW G. NICHOLSON, ATHOL U. WELLS, JAMES HOOPER, DAVID M. HANSELL, ANDREA KELLEHER, and CLIFF MORGAN Am. J. Respir. Crit. Care Med. 165: 128-131.

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