61. Niemann-Pick Disease | Www.somethingjewish.co.uk niemannpick Disease. The first case of infantile-onset niemann-pick disease was described in 1914 by the German neurologist Albert Niemann. http://www.somethingjewish.co.uk/articles/369_niemann_pick_disease.htm

HOME CONTACT US JOIN OUR FREE MAILING LIST JEWISH BLOGS ... WORLD NEWS SEARCH Home Page About Us Buy Jewish and Israeli gifts Suzie Gold ... You Are Wanted 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.

62. Niemann-Pick Disease What is niemannpick Disease? by. National niemann-pick Disease Foundation. niemann-pick Disease ( niemann-pick ) is actually a http://www.doucetfamily.org/interest/Niemann.HTM

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.

63. Your Health - Niemann-Pick Disease niemannpick Disease. by Debra Wood, RN. Definition. niemann-pick disease refers to a group of inherited conditions that affect the bodys metabolism. http://www.aurorahealthcare.org/yourhealth/healthgate/getcontent.asp?URLhealthga

64. Jim Lambright Niemann-Pick Foundation http://www.lambrightfoundation.com/

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65. Fachaerzte Niemann-Pick Krankheit Deutschland Saarland Saarbrücken Translate this page Ärzte Fachaerzte niemann-pick Krankheit Deutschland Saarland Saarbrücken 2003. Info. Hier finden Sie bekannte Firmen im Raum Deutschland. Home. Menue. http://www.aerzte.ro7.de/index/Aerzte/Fachaerzte_Niemann-Pick_Krankheit.htm

Ärzte Fachaerzte Niemann-Pick Krankheit Deutschland Saarland Saarbrücken Info Hier finden Sie bekannte Firmen im Raum Deutschland. Home Menue Rubrik Ärzte -Alles anzeigen- Apotheken Auto Computer Elektro Fotografie Heizung Homepage Infos Maler Metallbearbeitung Musik Netzwerk Obst Onlineshops Rechtsanwälte Reinigung Reisen Restaurants Sachverständiger Sanitär Software Telekommunikation Therapien Wissenschaft Ärzte Sortieren Bezeichnung Name Homepage Information Ort Datum Suchen: Seite anmelden Sonstiges Suchmaschinen www.yahoo.de www.google.de www.dmoz.org www.saarsucher.de Firmen mit Landkarte Hits Gesammt: Heute: Gestern: Online: Seite Info Haftungsausschluss Impressum Schnell Index Ärzte Aids Ärzte Allergie Ärzte Atemwegserkrankungen Ärzte Augenkrankheiten Ärzte Autoimmunerkrankungen Ärzte Bakterien Ärzte Blutkrankheiten Ärzte Brusterkrankungen Ärzte Diabetes mellitus Ärzte Erbkrankheiten Ärzte Geschlechtskrankheiten Ärzte Gynäkologie Krankheiten Ärzte Hautkrankheiten Ärzte Herz-Kreisl.-Krankheiten Ärzte HNO-Erkrankungen Ärzte InfektionsKrankheiten Ärzte Innere Krankheiten Ärzte Kinderkrankheiten Ärzte Krebs Ärzte Neurologische Erkrankungen Ärzte Nierenkrankheiten Ärzte Orthopädische Erkrankungen Ärzte Pilze Ärzte Potenzprobleme Ärzte PrionenErkrankungen BSE Ärzte Psychische Krankheiten Ärzte Reisemedizin Ärzte Reproduktionsmedizin Ärzte Rheumatische Erkrankungen Ärzte Schmerzen Ärzte Sexuell übertragbare Krankheiten Ärzte Sex. Störungen des Mannes

66. Aerzte Niemann-Pick Krankheit Deutschland Saarland Saarbrücken Translate this page Ärzte Aerzte niemann-pick Krankheit Deutschland Saarland Saarbrücken 2003. Info. Hier finden Sie bekannte Firmen im Raum Deutschland. Home. Menue. http://www.aerzte.ro7.de/index/Aerzte/Aerzte_Niemann-Pick_Krankheit.htm

Ärzte Aerzte Niemann-Pick Krankheit Deutschland Saarland Saarbrücken Info Hier finden Sie bekannte Firmen im Raum Deutschland. Home Menue Rubrik Ärzte -Alles anzeigen- Apotheken Auto Computer Elektro Fotografie Heizung Homepage Infos Maler Metallbearbeitung Musik Netzwerk Obst Onlineshops Rechtsanwälte Reinigung Reisen Restaurants Sachverständiger Sanitär Software Telekommunikation Therapien Wissenschaft Ärzte Sortieren Bezeichnung Name Homepage Information Ort Datum Suchen: Seite anmelden Sonstiges Suchmaschinen www.yahoo.de www.google.de www.dmoz.org www.saarsucher.de Firmen mit Landkarte Hits Gesammt: Heute: Gestern: Online: Seite Info Haftungsausschluss Impressum Schnell Index Ärzte Aids Ärzte Allergie Ärzte Atemwegserkrankungen Ärzte Augenkrankheiten Ärzte Autoimmunerkrankungen Ärzte Bakterien Ärzte Blutkrankheiten Ärzte Brusterkrankungen Ärzte Diabetes mellitus Ärzte Erbkrankheiten Ärzte Geschlechtskrankheiten Ärzte Gynäkologie Krankheiten Ärzte Hautkrankheiten Ärzte Herz-Kreisl.-Krankheiten Ärzte HNO-Erkrankungen Ärzte InfektionsKrankheiten Ärzte Innere Krankheiten Ärzte Kinderkrankheiten Ärzte Krebs Ärzte Neurologische Erkrankungen Ärzte Nierenkrankheiten Ärzte Orthopädische Erkrankungen Ärzte Pilze Ärzte Potenzprobleme Ärzte PrionenErkrankungen BSE Ärzte Psychische Krankheiten Ärzte Reisemedizin Ärzte Reproduktionsmedizin Ärzte Rheumatische Erkrankungen Ärzte Schmerzen Ärzte Sexuell übertragbare Krankheiten Ärzte Sex. Störungen des Mannes

67. PharmGKB: Niemann-Pick Diseases niemannpick Diseases. Alternate Names Cholesterol Lipidoses, Neuronal; Cholesterol Lipidosis, Neuronal; Classical Niemann Pick http://www.pharmgkb.org/do/serve?objId=PA445118&objCls=Disease

68. LookSmart - Directory - Niemann-Pick Disease niemannpick. niemann-pick Disease - Contains resources on the cause, symptoms, diagnosis and treatment of this condition. Directory http://search.looksmart.com/p/browse/us1/us317837/us317920/us53948/us330917/us27

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); Home IN the directory this category YOU ARE HERE Home Personal Health Niemann-Pick Disease - Contains resources on the cause, symptoms, diagnosis and treatment of this condition. Directory Listings About allRefer Health - Niemann-Pick Disease Information Provides the signs, diagnosis, support groups, prognosis, symptoms, causes, risks, complications, prevention, and treatment of the four types A, B, C, and D. Ara Parseghian Research Fdn - Niemann-Pick Disease Nonprofit organization funds research into a cure for Niemann-Pick disease. Find support group links and grant applications. Nat'l Ctr for Biotechnology Info - Niemann-Pick Disease Provides a technical overview of the disease, including recent research and a reference list. From the Ctr's Online Mendelian Inheritance in Man. Nat'l Niemann-Pick Disease Fdn - Niemann-Pick Disease Foundation describes the various types of Niemann-Pick disease and discusses symptoms and treatment options. Find support links and newsletters. Niemann-Pick Disease Group (UK) - Niemann-Pick Disease Read about this charity group that provides info and support to professionals and families. Includes a newsletter, a support hotline, and links.

69. ► Niemann-Pick Translate this page English / Spanish niemann-pick. Definición La enfermedad de niemann-pick es causada por mutaciones genéticas específicas. Las cuatro http://www.umm.edu/esp_ency/article/001207.htm

Enfermedades Nutrici³n Cirugia Sintomas Lesiones ... Z Maryland Medical Center Programs UM Hospital for Children Home Medical Reference Encyclopedia (Spanish) Toggle English Spanish Niemann-Pick Informaci³n general S­ntomas Tratamiento Prevenci³n Definici³n: La enfermedad de Niemann-Pick es causada por mutaciones gen©ticas espec­ficas. Las cuatro formas de la enfermedad de Niemann-Pick se caracterizan por una acumulaci³n de esfingomielina y colesterol en las c©lulas, particularmente en las c©lulas de ³rganos importantes como el h­gado y el bazo. Las tres formas m¡s conocidas de la enfermedad son los tipos A, B y C. Nombres alternativos: Deficiencia de esfingomielinasa (enfermedad de Niemann-Pick tipo A) Causas, incidencia y factores de riesgo: Todos los tipos de Niemann-Pick son enfermedades gen©ticas que se heredan de forma autos³mica recesiva. Los tipos A y B de Niemann-Pick son causados por le deficiencia de la actividad de una enzima espec­fica, la esfingomielinasa ¡cida (ASM), si esta no est¡ o no funciona de manera adecuada, la esfingomielina no puede ser metabolizada de manera adecuada y se acumula dentro de la c©lula provocando eventualmente la muerte celular y el mal funcionamiento de sistemas org¡nicos importantes. El tipo D de Niemann-Pick es muy diferente de los tipos A y B. Los pacientes con tipo C no son capaces de metabolizar el colesterol y otros l­pidos de manera adecuada. Consecuentemente se acumulan cantidades excesivas de colesterol dentro del h­gado y el bazo y se acumulan cantidades excesivas de otros l­pidos en el cerebro. El defecto del metabolismo ocasionalmente conduce a reducci³n secundaria de la actividad de la esfingomielinasa ¡cida en algunas c©lulas.

70. Niemann-Pick Disease niemannpick Disease. Like Gaucher s disease, niemann-pick Disease is a lysosomal storage disorder in which a missing enzyme prevents http://www.cedars-sinai.edu/5271.html

Home Medical Dictionary Contact Us About Us ... Niemann-Pick Disease Niemann-Pick Disease Like Gaucher's disease, Niemann-Pick disease is a lysosomal storage disorder in which a missing enzyme prevents the metabolism of a certain compound that then accummulates in the cells. Symptoms There are three types of this disease: Type A is a genetic disorder in which sphyingomyelin (ceramide phosphorylcholine) accumulates in cells of infants and young children. This condition causes the liver and the spleen to become enlarged and the child not to thrive. There is rapid degeneration of the nerves that leads to death by age two or three. Type B, like type A, is a genetic disorder in which sphyingomyelin accumulates in cells. A patient may develop fatty, irregular yellow patches or nodules on the skin of the eyelids, neck or back that is associated with disturbances in cholesterol metabolism. A patient may also have skin discoloration and enlarged liver, spleen and lymph nodes. However, persons with type B have little or no nerve involvement and survive into adulthood. Type C is caused by an error in cholesterol metabolism that results in unesterified cholesterol accumulating in cells. Its symptoms include variable enlargement of the liver and spleen, an increasing inability to control muscle movement, seizures, disordered muscle tone, dementia and sometimes fatal neonatal liver disease. It usually appears in late childhood with death in the patient's 20s. When it appears in adulthood it can produce psychosis and dementia.

71. Niemann-Pick Disease niemannpick Disease. What is niemann-pick disease? Ara Parseghian Medical Research Foundation For niemann-pick Type C Disease 3530 East Campo Abierto Rd. http://www.clevelandclinic.org/health/health-info/docs/1300/1312.asp?index=6059&

72. Niemann-Pick Disease niemannpick Disease. niemann-pick disease refers to a group of inherited storage disorders which affect how the body creates energy (metabolism). http://rarediseases.about.com/cs/niemannpick/a/062503.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Email to a friend Print this page Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. Suggested Reading Internet links on Niemann-Pick disease Info on gene therapy for Type A NPD Most Popular ALD and Lorenzo's Oil The Elephant Man's Bones Reveal Mystery Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Autoimmune Kidney Disease Tourette Syndrome Christmas Disease Bugs, PANDAS, and Tics ... Dystonia and Botox Injections Niemann-Pick Disease From Mary Kugler Your Guide to Rare / Orphan Diseases Sign up for my Newsletter Group of storage disorders Certain groups have higher risk Type A Niemann-Pick Type B Niemann-Pick Type C Neimann-Pick Symptoms variable Diagnosis Research for treatments and cures Information for this article was taken from: National Niemann-Pick Disease Foundation RATE THIS ARTICLE Would you recommend this article?

73. Niemann-Pick Disease niemannpick Disease. niemann-pick Disease Since the early 1990s, research into cures for this group of inherited storage disorders has progressed. http://rarediseases.about.com/b/a/003361.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Niemann-Pick Disease Rare/Orphan Diseases Blog Main June 28, 2003 Niemann-Pick Disease Since the early 1990s, research into cures for this group of inherited storage disorders has progressed. The genetic sources of Niemann-Pick have been identified, and successful treatment studies using mice have been reported. Learn about the disease and new research in the feature article on Niemann-Pick Email a Friend Display Latest Headlines Read Archives Most Popular ALD and Lorenzo's Oil The Elephant Man's Bones Reveal Mystery Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Autoimmune Kidney Disease Tourette Syndrome Christmas Disease Bugs, PANDAS, and Tics

74. Genetic Diseases: Niemann-Pick Disease Disease. niemannpick Disease Reprinted with permission from the Mount Sinai Center for Jewish Genetic Diseases, Jewish Genetic Diseases, http://www.ujc.org/content_display.html?ArticleID=81283

75. Spectrum Of Phenotypic Variability In Niemann-Pick Type C Disease: A Cause Of De Translate this page Case Report. September/October 1998, Volume 3, Number 5 329-333. Spectrum of phenotypic variability in niemann-pick type C disease A cause of delayed diagnosis. http://www.pulsus.com/Paeds/03_05/pras_ed.htm

forgot your password? Case Report September/October 1998, Volume 3, Number 5: 329-333 Spectrum of phenotypic variability in Niemann-Pick type C disease: A cause of delayed diagnosis C Prasad, C Pushpanathan, R Morris, AJ Davis, FE Dougherty BACKGROUND: Niemann-Pick type C (NP-C) disease exhibits marked heterogeneity in its phenotype. This can pose diagnostic dilemmas and even delayed recognition of this condition. OBJECTIVE: To highlight the phenotypic variations and distinctive pathological and biochemical findings in this disorder. DESIGN: Descriptive case studies. SETTING: Tertiary care children’s hospital and clinic. POPULATION STUDIED: Three cases of NP-C disease where diagnosis was delayed. RESULTS: In each of the three cases the clinical presentation was varied, one as neonatal hepatitis, the second with megaloblastic anemia, chronic hepatitis and short stature, and the third with neonatal hepatitis and chronic respiratory failure. Definitive diagnosis was established in each case by demonstration of defective cholesterol esterification in skin fibroblasts.

76. »»Niemann-Pick-Disease Reviews«« niemannpick-Disease Reviews. Related Subjects Neural-Tube-Defects. Book reviews for niemann-pick-Disease sorted by average review score http://www.health-issue-books.com/Neural-Tube-Defects/Niemann-Pick-Disease/

Niemann-Pick-Disease Reviews Related Subjects: Neural-Tube-Defects Book reviews for "Niemann-Pick-Disease" sorted by average review score: The Official Parent's Sourcebook on Niemann-Pick Disease: A Revised and Updated Directory for the Internet Age Published in Paperback by Icon grp int (September, 2002) Author: Icon Health Publications Amazon base price: Average review score: No reviews found. Related Subjects: Neural-Tube-Defects Search for a Health Issue Book Sort by: Rank Last Modified Date Title Path Reverse Sort

77. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Nutrition_and_Meta News about niemannpick full story. More news about niemann-pick . Books about niemann-pick More books about niemann-pick . Links about niemann-pick http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Nutrition_a

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78. Niemann-Pick Disease niemann pick disease. Niemann Pick Disease signs. constipation Niemann Pick Disease. piles Niemann Pick Disease. Niemann Pick Disease pain. b disease niemann pick. http://www.icongrouponline.com/health/Niemann_Pick_Disease.html

ICON Health Publications Official Health Sourcebooks The Official Parent's Sourcebook on NIEMANN-PICK DISEASE (Lipid Histiocytosis; Lipidosis, Sphingomyelin; sphingomyelin lipidosis; sphingomyelinase deficiency) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Electronic File *E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Niemann Pick Disease. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Lipid Histiocytosis; Lipidosis, Sphingomyelin; sphingomyelin lipidosis; sphingomyelinase deficiency Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Niemann-Pick Disease: Guidelines Overview What Is Niemann-Pick Disease?

79. Dictionary Definition Of NIEMANN-PICK CELL Dictionary definition of niemannpick CELL. Medical dictionary. Synonym niemann-pick cell. Please select first two letters of word you are looking for. http://www.dictionarybarn.com/NIEMANNPICK-CELL.php

Dictionary definition of NIEMANN-PICK CELL Browse Dictionary by alphabet A B C D ... Z Top Words Ni niacin test niacinamide niagara period ... night-blooming A relatively large, rounded or polygonal, mononuclear cell, with indistinctly or palely staining, foamlike cytoplasm that contains numerous droplets of a phosphatide, sphingomyelin; such cell's are widely distributed in the spleen and other tissues, especially those rich in reticuloendothelial components, in patients with Niemann-Pick disease. Synonym: Niemann-Pick cell. Please select first two letters of word you are looking for NA NB NC ND ... NZ fiSearchFormMaxSetId='AX006027'; Top Words night-terrors nightguard nightingale nightmare ... Home Sponsored By: West Virginia Car Rentals Wisconsin Car Rentals

80. Niemann-Pick Disease niemannpick Disease. Types A and B niemann-pick are both caused by the deficiency of a specific enzyme activity, acid sphingomyelinase (ASM). http://www.geocities.com/disabilitiesinaction/niemann.html

Niemann-Pick Disease Niemann-Pick Disease ("Niemann-Pick") is actually a term for a group of diseases which affect metabolism and which are caused by specific genetic mutations. The three most commonly recognized forms of the disease are Types 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 have 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 to 3 years of age. It is believed that the majority of Niemann-Pick cases are Type A.

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