41. EMedicine - Niemann-Pick Disease : Article By Margaret McGovern, MD, PhD niemannpick Disease. Last Updated June 6, 2002, FULL DISCLAIMER. niemann-pickDisease excerpt. © Copyright 2003, eMedicine.com, Inc. http://www.emedicine.com/PED/topic2889.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Niemann-Pick Disease Last Updated: June 6, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: NPD, acid sphingomyelinase deficiency, enzyme deficiencies, neurodegenerative disease, failure to thrive, hepatosplenomegaly, sphingomyelin accumulation, lipid storage disorder, defective cholesterol metabolism, Niemann-Pick cells AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine Margaret McGovern, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics , and American Society of Human Genetics Editor(s): James Bowman, MD , Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago; Mary L Windle, PharmD

42. EMedicine - Niemann-Pick Disease : Article By Santiago A Centurion, MD, MS niemannpick Disease. Last Updated August 6, 2002, FULL DISCLAIMER.niemann-pick Disease excerpt. © Copyright 2002, eMedicine.com, Inc. http://www.emedicine.com/derm/topic699.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Niemann-Pick Disease Last Updated: February 11, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: NPD, Crocker's syndrome, Crocker syndrome, Crocker-Farber syndrome, Niemann's disease, Niemann disease, Pick's disease, Pick disease, essential lipoid histiocytosis, lipid histiocytosis, phosphatidolipoidosis, phosphatidosis sphingomyelin lipidosis, sphingomyelinosis, sphingomyelin reticuloendotheliosis AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Santiago A Centurion, MD, MS , Staff Physician, Department of Dermatology, UMDNJ-New Jersey Medical School Coauthor(s): Danielle Lann, MD , Staff Physician, Dermatology, UMDNJ-New Jersey Medical School Naomi Bartnoff, MS , Genetics Counselor, Obstetrics and Gynecology, UMDNJ-New Jersey Medical School Robert A Schwartz, MD, MPH

43. 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.

44. Niemann-Pick Disease niemannpick disease Guide picks. International Center for Types A and Bniemann-pick Disease Comprehensive information and links from the Mt. http://rarediseases.about.com/cs/niemannpick/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Niemann-Pick disease Guide picks Fatty deposits infiltrate the liver, spleen, lungs, lymph nodes, and bone marrow. International Center for Types A and B Niemann-Pick Disease Comprehensive information and links from the Mt. Sinai School of Medicine. 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.

45. Niemann-Pick Disease Print this article. Find related articles By topic Neurology. By keywordsReceive HealthLink via email! Subscribe now . niemannpick Disease. http://healthlink.mcw.edu/article/921445105.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> 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. The clinical designations applied to NP are somewhat erratic. Patients are currently subdivided into 4 categories. In the first, called type A, enlargement of the liver and spleen are apparent early in infancy and profound brain damage is evident. These children rarely live beyond 18 months. In the second group, called type B, enlargement of the liver and spleen characteristically occur in the pre-teen years. Most of these patients also have pulmonary difficulties, but the brain is not affected. The fatty material that accumulates in types A and B is called sphingomyelin. This lipid is a major component of the membrane of all cells in the body. The metabolic defect in types A and B is insufficient activity of an enzyme called sphingomyelinase that initiates the biodegradation of sphingomyelin that arises from normal cell turnover. The term NP also includes 2 other variant forms called types C and D. Patients with these types have only moderate enlargement of their spleens and livers. They have brain involvement that can be extensive leading to inability to look up and down, difficulty in walking and swallowing, as well as progressive loss of vision and hearing. The disorder may appear early in life or its onset may be delayed into the teen years. Both types are characterized by an inability to mobilize cholesterol in the nerve cells in the brain where it accumulates and causes malfunction of these cells. The only difference between these two subtypes is that type D arises in people with a common ancestral background in Nova Scotia.

46. Short Description Of Cell Lines. Pathology: Niemann-Pick Disease, Type A *257200 Version 4.200205, Short description of cell lines. Pathology niemannpickdisease, 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...

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

48. Niemann-Pick Type C (NP-C) About niemannpick Type C This disorder causes progressive deterioration of thecentral nervous system due to the body's inability to metabolize cholesterol. http://www.fightforjessica.com/niemann.htm

About Niemann-Pick Type C: This disorder causes progressive deterioration of the central nervous system due to the body's inability to metabolize cholesterol. Consequently, large amount of cholesterol accumulate within the liver, spleen, and brain. This metabolic disorder leads to a series of neurological problems. It has been termed as a childhood form of Alzheimer's. Children with this disorder rarely live into their teenage years. Currently, there is no treatment for this disease. Until recently, there has been little known about NP-C. Without a cure or treatment, victims of this syndrome gradually lose their ability to look up and down, walk, talk, control their muscles, eat, and grow. It is ultimately fatal. Genetic engineering is being examined as a possible definitive cure. Accelerated research is key to saving the lives of NP-C sufferers, most of whom are children. As Coach Parseghian has said, "There will be no cure without research and no research without funding." He also has said, "We are in a race against time." Government funding, to this point in time, has been inadequate. Private donations are essential to continue the progress of this research.

49. Niemann-Pick Disease Mitochodrial Disorders. niemannpick Disease. Phenylketonuria (PKU). Urea CycleDefects. 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

50. Center For Jewish Genetic Disorders | Niemann-Pick Disease Diagnosis Laboratory testing looking for deficiency of a specific enzyme or bygenetic testing of the niemannpick gene. Inheritance Autosomal Recessive. http://www.jewishgenetics.org/niepic.htm

This disease is caused by a deficiency of an enzyme called sphingomyelinase, an enzyme responsible for breaking down a specific fat in the body. Lack of sphingomyelinase causes an accumulation of this fat in various body organs. There are several subtypes of this condition. Type A is seen with increased frequency in those of Jewish ancestry. In type A, accumulation also occurs in the brain and nervous system which causes rapid deterioration and death 2-3 years of age. No cure or effective treatment is available. Disease frequency: 1 in 40,000 for type A in the Jewish population. Carrier frequency: As high as 1 in 70 for those of Jewish ancestry. Diagnosis: Laboratory testing looking for deficiency of a specific enzyme or by genetic testing of the Niemann-Pick gene. Inheritance: Autosomal Recessive Carrier testing: Available by testing of the Niemann-Pick gene. Prenatal diagnosis: Available to those with an affected child or to couples identified to be at risk by carrier testing. Additional Information: National Niemann-Pick Disease Foundation, Inc.

51. Niemann-Pick Disease niemannpick Disease National niemann-pick Disease Foundation, Inc. Niemann Pick DiseaseGroup (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

52. Health Information Resource Database: National Niemann-Pick Disease Foundation, of Health and Human Services.. National niemannpick Disease Foundation,Inc. Contact Information. Barb Vorpahl, Director of Support http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2579

53. Mantissa Translate this page niemann-pick Tipo C. niemann-pick Tipo (NP-C) é uma doença genética, neurologicamenteprogressiva, grave e rara. Sintomas de niemann-pick Tipo C. http://sites.uol.com.br/mantissama/favorite.htm

Mantissa Família Álbum Fundação ... Mantissa´s Home Niemann-Pick Tipo C Niemann-Pick Tipo (NP-C) é uma doença genética, neurologicamente progressiva, grave e rara. Este resumo foi escrito para lhe ajudar a entender mais sobre NP-C, e reconhecer algumas das características da doença. Sintomas de Niemann-Pick Tipo C Um pessoa com NP-C normalmente tem alguns sintomas óbvios. Quase todas pessoas com NP-C têm um fígado e/ou baço aumentados. Isto pode ser notado logo ao nascimento, em alguns casos, porém, não acontece aumento do fígado e/ou de baço por meses ou anos. O aumento do fígado e/ou do baço é associado com a acumulação progressiva anormal de material gorduroso, e colesterol dentro das células. O aumento dos órgãos normalmente não causa complicações. Deterioração neurológica é o principal sintoma de NP-C. Problemas neurológicos nos pacientes com NP-C incluem: perda do tono muscular, dificuldade na coordenação motora, perda de equilíbrio, fala normalmente lenta e inarticulada. Falta de movimento nos olhos para cima e para baixo. Dificuldades no aprendizado e declínio do intelectual progressivo são esperados. Uma pessoa com NP-C pode ser lenta para aprender habilidades novas.

54. Nieman-Pick niemannpick Type C niemann-pick Type C (NP-C) it is a genetic diseaseneurologic, progressive, serious and rare. This summary was http://sites.uol.com.br/mantissama/Nieman-Pick.htm

Mantissa's Family Niemann-Pick Foundation Links Álbum Mantissa's Home Niemann-Pick Type C Niemann-Pick Type C (NP-C) it is a genetic disease neurologic, progressive, serious and rare. This summary was written to help it to understand more on NP-C, and to recognize some of the characteristics of disease. Symptoms of Niemann-Pick Tipo C  A person with NP-C usually has some obvious symptoms. Almost whole people with NP-C have an increased liverand/or spleen. This can be noticed soon to the birth, in some cases, even so, increase of the liver spleen and doesn't happen for months or years. The increase of the liver and/or of the spleen is inside associated with the abnormal progressive accumulation of material gorduroso, and cholesterol of the cells. Neurological deterioration is the main symptom of NP-C. Neurological problems in the patients with NP-C include: loss of the muscular tono, difficulty in the motive coordination, balance loss, usually speaks slow and inarticulate. It lacks of movement in the eyes upward and down. Difficulties in the learning and the progressive intellectual's decline are expected. A person with NP-C can be slow to learn new habilities .

55. Niemann-Pick Type C Home Page niemannpick Type C Disease. niemann-pick Type C is a fatal genetic disorderwhich prevents children from being able to metabolize cholesterol. http://www.holyfamily-gj.org/npchome.htm

Niemann-Pick Type C Disease Niemann-Pick Type C is a fatal genetic disorder which prevents children from being able to metabolize cholesterol. Below is a poem written by Susan Buescher, the cousin of three children with Niemann-Pick Type C. To learn more about these children, click here So Hard to Say Goodbye Dedicated to Michael, Marcia, and Christa Parseghian I see you there, so innocent, so young Unaware of the Danger that lies ahead But I know and I cannot forget I don't want you to leave me I don't want to say goodbye Why were you put on this Earth If only to leave again so soon I wish you could stay I don't want you to leave me I don't want to say goodbye I promise to do all I can To find a cure, to let you stay To always have you near Because I don't want you to leave me I don't want to say goodbye -Susan Buescher What is Neimann-Pick Type C? Is there a cure? What is the Ara Parseghian Medical Research Foundation? What is the National Niemann-Pick Disease Foundation? ... Click here to send e-mail with questions or comments This page was created by Kate and Alison, eighth graders at Holy Family School. We would like to thank the Ara Parseghian Medical Research Foundation and the National Niemann-Pick Disease Foundation for their work in fighting this horrible disease. Their work brings hope to the many families who have children who suffer from Niemann-Pick Type C.

56. Niemann-Pick Disease niemannpick disease. Disease Type Lysosomal storage / LDL degradation. Aetiology. niemann-pickdisease 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:

57. Jim Lambright Niemann-Pick Foundation I am recruiting another team now, one that saves lives. niemannpick, Type C Diseaseis a genetic disorder that prohibits the metabolism of cholesterol. http://www.lambrightfoundation.com/home.html

Thanks for your support. Jim Lambright Please see Everett Herald story published August 8, 2002 about the Lambright Farm and Family. For more information about the Jim Lambright Niemann-Pick Foundation, please c all 425-486-5303 or e-mail help@lambrightfoundation.org Raycast Northwest

58. About Niemann-Pick Type C WHAT IS niemannpick, Type C DISEASE? E-mail Us! © MMI Jim Lambright niemann-pickFoundation Site maintained and Hosted by Raycast Northwest. http://www.lambrightfoundation.com/about.html

Our sons Bart and Brad continue to thank you for supporting them with your dollars and helping them find a cure for NPC, the disease that haunts them. WHAT IS Niemann-Pick, Type C DISEASE? NP-C is a genetic pediatric neurodegenerative disorder which causes progressive deterioration of the nervous system. Adults and children with NP-C are not able to metabolize cholesterol properly. Cholesterol accumulates within the cells of the liver, spleen and brain. This excess storage of cholesterol damages the nervous system resulting in deterioration of the body. NP-C is an autosomal recessive disease. Both parents carry one copy of the abnormal gene without manifesting any sign of the disease. A child with NP-C inherits two copies of the abnormal gene. There is one chance in four that the child of two carriers will be affected with NP-C and one chance in two that the child will be a carrier. Symptoms include difficulty with upward and downward eye movement, hearing loss, slurred or slow speech, difficulty swallowing, loss of motor skills including unsteady balance, irregular gait and frequent falls. As the disease progresses, dementia, seizures and ultimately death occur. Affected children usually do not live into their teenage years; and although the adult onset is slower to progress, the outcome is the same..

59. Center For Jewish Genetic Diseases - Mount Sinai School Of Medicine MSSM Home, Diseases niemannpick Disease. he first case of infantile-onset niemann-pickdisease was described in 1914 by the German neurologist Albert Niemann. http://www.nfjgd.org/diseases/niemann-pick.shtml

Diseases: Niemann-Pick Disease he 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. Health Library: All Topics: N: Niemann-Pick Disease - Healthfinder® niemannpick Disease A general overview of niemann-pick disease that includes a descriptionof the disorder, and treatment, prognosis and research information. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=582

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 3     41-60 of 93    Back | 1  | 2  | 3  | 4  | 5  | Next 20