61. Florida State University College Of Medicine Digital Library niemannpick Diseases Patient/Family Resources. Miscellaneous. niemann-pick Accessdocument. Miscellaneous niemann-pick Diseases Patient/Family Resources http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphi

Patient/Family Resources by Topic: Metabolic Disorders Niemann-Pick Diseases Patient/Family Resources Spanish Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Resources Niemann-Pick Diseases Clinical Resources National Niemann-Pick Disease Foundation: Homepage National Tay-Sachs and Allied Diseases Association: Homepage Profiles of Allied Diseases: List of documents Niemann-Pick Disease: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Niemann-Pick Disease: Access document MEDLINE plus Medical Encyclopedia: Table of contents Niemann-Pick: English Spanish Merck Manual Home Edition Table of contents Chapter 139. Disorders of Cholesterol and Other Fats: Access document Spanish MEDLINE plus Medical Encyclopedia: Table of contents Niemann-Pick: English Spanish Miscellaneous Niemann-Pick Diseases Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Niemann-Pick Disease: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

62. Florida State University College Of Medicine Digital Library Clinical Resources by Topic Metabolic Disorders. niemannpick DiseasesClinical Resources. niemann-pick Disease List of documents. http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingo

Clinical Resources by Topic: Metabolic Disorders Niemann-Pick Diseases Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Resources Niemann-Pick Disease Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document Neutral Glycosphingolipid Lipid Storage Disorders: Access document Chapter 259: Interstitial Lung Diseases: Table of contents Individual Forms of ILD: Access document Inherited Disorders Associated with ILD: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Medical Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):

63. Niemann-Pick Index niemannpick Index, back to literature. Studies Effects of Drugson Cholesterol Esterification in Normal and niemann-pick Type C http://www.dmso.org/articles/niemannpick/

Niemann-Pick Index Studies: "Effects of Drugs on Cholesterol Esterification in Normal and Niemann-Pick Type C Fibroblasts: AY-9944, Other Cationic Amphiphilic Drugs, and DMSO" L. Hideto Yoshikawa, MD

64. NINDS Niemann-Pick Disease Information Page More about NINDS niemannpick Disease Information Page. Content for thispage. NINDS niemann-pick Disease Information Page. Reviewed 11-27-2001. http://accessible.ninds.nih.gov/health_and_medical/disorders/niemann.doc.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Niemann-Pick Disease Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Niemann-Pick Disease Information Page Reviewed 11-27-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Niemann-Pick disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Niemann-Pick disease? Is there any treatment?

65. NIH Scientists Identify Gene For Fatal Childhood Disorder, Niemann-Pick Type C NIH Scientists Identify Gene for Fatal Childhood Disorder, niemannpick TypeC Finding Points to Critical New Steps in Cholesterol Processing. http://accessible.ninds.nih.gov/news_and_events/pressrelease_fatal_childhood_nie

66. Health Library - Niemann Pick Disease Niemann Pick Disease. Synonyms General Discussion. niemannpick disease(NPD) is a group of rare inherited disorders of fat metabolism. At http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

67. Niemann-Pick niemannpick. Definition niemann-pick disease is caused by specificgenetic mutations. The four forms of niemann-pick Disease http://www.pennhealth.com/ency/article/001207.htm

Disease Injury Nutrition Poison ... Prevention Niemann-Pick Definition: Niemann-Pick disease is caused by specific genetic mutations. The four forms of Niemann-Pick Disease are all characterized by an accumulation of sphingomyelin and cholesterol in cells, particularly in the cells of major organs, such as the liver and the spleen. The three most commonly recognized forms of the disease are Types A, B and C. Alternative Names: Sphingomyelinase deficiency (type A Niemann-Pick disease) Causes, incidence, and risk factors: All types of Niemann-Pick are genetic diseases that are inherited in an autosomal recessive manner. Types A and B Niemann-Pick are both caused by the deficiency of a specific enzyme activity, acid sphingomyelinase (ASM). If ASM is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems. Type C Niemann-Pick is very different from types A and B. Patients with Type C are not able to metabolize cholesterol and other lipids properly. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. The defect in metabolism occasionally leads to a secondary reduction in ASM activity in some cells. Type C Niemann-Pick disease has been reported in all ethnic groups. There is a higher than average prevalence of the disease in Puerto Ricans of Spanish descent.

68. Niemann-Pick Disease (Ludwig Pick) (www.whonamedit.com) niemannpick disease (Ludwig Pick) AC Crocker, S. Farber niemann-pick diseaseA review of eighteen patients. Medicine, Baltimore, 1958, 37 1-95. http://www.whonamedit.com/synd.cfm/1029.html

Home List categories Eponyms A-Z Biographies by country ... Contact Niemann-Pick disease (Ludwig Pick) Also known as: Crocker's syndrome Crocker-Farber syndrome Niemann's disease Pick's disease (Ludwig Pick) Synonyms: Essential lipoid histiocytosis, lipid histiocytosis, phosphatidolipoidosis, phosphatidosis, sphingomyelin lipidosis, sphingomyelinosis, sphingomyelin reticuloendotheliosis. Associated persons: Allen C. Crocker Sidney Farber Albert Niemann Ludwig Pick Description: A hereditary, congenital syndrome with onset in early infancy. A disturbance of sphingolipid metabolism characterised by enlargement of liver and spleen, anaemia, cherry red spot of the macula with progressive blindness, lymphadenopathy, and progressive mental and physical deterioration. Death usually occurs before the third year. Typical cell, having a foamy appearance and filled with a lipoid believed to be sphingomyelin, can be found in bone marrow, spleen, or lymph nodes and aids in establishing the diagnosis. Occurs in five clinically distinguishable phenotypes. Type A(Niemann): severe infantile form; type B (Pick): visceral or chronic from; type C: the subacute or juvenile type; type D: Nova Scotia (also called Crocker-Farber syndrome), and type e) adult non-neuronopathic. The severe infantile form is the most common, with a rapidly progressing course leading to death within two years of age. Occurs mainly in Jews. The disorder is heterogeneous but all forms are autosomal recessive.

69. Genzyme Corporation - Genetics niemannpick Type A. niemann-pick disease is a lysosomal storage disorder.The basic defect is a deficiency of acid sphingomyelinase http://www.genzymegenetics.com/genetics/clinicalinfo/molgen/niemann.htm

70. Niemann-Pick Disease Group  (Specific Eye Conditions Web Site) SPecific Eye ConditionS www.eyeconditions.org.uk. niemannpick DiseaseGroup (UK). Tel +44 (0)1592 580672 E-Mail niemann-pick@zetnet.co.uk. http://www.eyeconditions.org.uk/npdg.htm

SP ecific E ye C ondition S www.eyeconditions.org.uk Niemann-Pick Disease Group (UK) Susan Green, Family Support Co-ordinator, Kingslaw House, East Brae East Wemyss, Fife KY1 4RS, Scotland, United Kingdom Tel: +44 (0)1592 580672 E-Mail: Niemann-Pick@zetnet.co.uk Website: www.nnpdf.org/npdg-uk/ Is a child you know experiencing some or all of these symptoms? jaundice following birth abdominal enlargement progressive loss of early motor skills feeding and swallowing difficulties vertical eye movement difficulties enlarged spleen or liver learning problems sudden loss of muscle tone slurred speech seizures hypersensitivity to touch These symptoms may be an indication of Niemann-Pick Disease. The Niemann-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. Return to SPECS Home Page

71. Niemann-Pick Disease niemannpick Disease. What is niemann-pick disease? National niemann-pick Foundation3734 E. Olive Ave Gilbert, AZ 85234 Phone (602) 497-6638 Fax (602) 497-6346. http://www.clevelandclinic.org/health/health-info/docs/1300/1312.asp?index=6059

72. Gillies Lab MRS/MRI Of Niemann-Pick Type C Disease niemann-pickType C is a heritable defect in intracellular cholesterol trafficking.......Site Navigation Map MRS/MRI of niemannpick type C disease. http://www.biochem.arizona.edu/gillies_lab/proj07.htm

MRS/MRI of Niemann-Pick type C disease Project Leader Nanci Aiken, PhD Other Personnel Natarajan Raghunand, PhD Robert van Sluis, PhD Ted Trouard, PhD Description Niemann-Pick Type C is a heritable defect in intracellular cholesterol trafficking. It is a particularly devastating disease since it generally attacks the young, and is fatal prior to puberty. There is a family of NP-C affected children in Tucson. The purpose of this project is to define MRI/MRS methods to non-invasively quantify the extent and location of disease. Such methods could potentially be used in both diagnosing extent of disease and monitoring response to therapy. It is this latter aspect which is particularly appealing since currently there are no therapies to prevent disease progression, although many are in development. It is our position that a quantitative measure of disease extent will hasten the development of effective therapies. 1H MRS of NP-C mice. Click on the image for a detailed view. Further reading Carstea, E.D., Morris, J.A., Coleman, K.G., et al (1997) Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis, Science, 277, 228-231 Garver, W.S., Erickson, R.P., Wilson, J.M., Colton, T.L., Hossain, G.S., Kozloski, M.A. and Heidenreich, R.A. (1997) Altered expression of caveolin-1 and increased cholesterol in detergent insoluble membrane fractions from liver in mice with Neimann-Pick disease type C, Biochim. Biophys. Acta (in press)

73. Health Library - Niemann Pick Disease Niemann Pick Disease. Synonyms General Discussion. niemannpick disease(NPD) is a group of rare inherited disorders of fat metabolism. At http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

74. 1Up Health > Niemann-Pick > Causes, Incidence, And Risk Factors Of Niemann-Pick 1Up Health Diseases Conditions niemannpick Causes, Incidence, and RiskFactors. niemann-pick Causes, Incidence, and Risk Factors. Alternative names http://www.1uphealth.com/health/niemann_pick_info.html

1Up Health Niemann-Pick Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Niemann-Pick Information Niemann-Pick Causes, Incidence, and Risk Factors Alternative names : Sphingomyelinase deficiency (type A Niemann-Pick disease) Definition : Niemann-Pick disease is caused by specific genetic mutations. The four forms of Niemann-Pick Disease are all characterized by an accumulation of sphingomyelin and cholesterol in cells, particularly in the cells of major organs, such as the liver and the spleen. The three most commonly recognized forms of the disease are Types A, B and C. Causes, Incidence, and Risk Factors All types of Niemann-Pick are genetic diseases that are inherited in an autosomal recessive manner. Types A and B Niemann-Pick are both caused by the deficiency of a specific enzyme activity, acid sphingomyelinase (ASM). If ASM is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems. Type C Niemann-Pick is very different from types A and B. Patients with Type C are not able to metabolize cholesterol and other lipids properly. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. The defect in metabolism occasionally leads to a secondary reduction in ASM activity in some cells.

75. Fanconi Anemia (Type C) And Niemann-Pick Disease, DNA Analysis ( Fanconi Anemia (Type C) and niemannpick Disease, DNA Analysis (512129).CPT 83890; 83893 (x4); 83894 (x2); 83896 (x8); 83898 (x2 http://www.labcorp.com/datasets/labcorp/html/chapter/mono/mg003600.htm

Fanconi Anemia (Type C) and Niemann-Pick Disease, DNA Analysis (512129) CPT Related Information Chromosome Analysis, Instability Syndromes Synonyms Acid Sphingomyelinase Gene; Jewish Heritage, IVS+4 A-T Mutation Test Includes Fanconi anemia (type C), DNA analysis; Neimann-Pick disease (type C), DNA analysis Specimen Whole blood Volume 7 mL Minimum Volume 3 mL Container Lavender-stopper (EDTA) tube Storage Instructions Maintain specimen at room temperature. Causes for Rejection Frozen specimen; hemolysis; quantity not sufficient for analysis Use Identification of carrier and affected individuals for one mutation associated with Fanconi anemia C and identification of carrier and affected individuals for four mutations associated with Neimann-Pick disease, types A and B Limitations This test detects ~95% of the mutations responsible for Niemann-Pick disease, types A and B in Ashkenazi Jews and detects ~99% of the mutations responsible for Fanconi anemia, type C in Ashkenazi Jews. This test is not appropriate for non-Ashkenazi Jewish individuals. Methodology Polymerase chain reaction (PCR) and allele-specific oligonucleotide (ASO) analysis and allele-specific polymerase chain reaction (PCR) and gel electrophoresis References Auerbach AD, "Fanconi Anemia: Genetic Testing in Ashkenazi Jews,"

76. Niemann-Pick Disease, DNA Analysis (511329) niemannpick Disease, DNA Analysis (511329). CPT 83890; 83893 (x4);83894; 83896 (x8); 83898 (x2); 83912 Related Information http://www.labcorp.com/datasets/labcorp/html/chapter/mono/mg003400.htm

Niemann-Pick Disease, DNA Analysis (511329) CPT Related Information Jewish Heritage Profile Jewish Heritage Profile II Synonyms Acid Sphingomyelinase Gene; Jewish Heritage Specimen Whole blood Volume 7 mL Minimum Volume 3 mL Container Lavender-stopper (EDTA) tube Storage Instructions Maintain specimen at room temperature or refrigerate. Causes for Rejection Frozen specimen; hemolysis; quantity not sufficient for analysis Use Identification of carrier and affected individuals for four mutations associated with Neimann-Pick disease, types A and B Limitations This test detects ~95% of the mutations responsible for Niemann-Pick disease, types A and B in Ashkenazi Jews. This test may be considered by Medicare and other carriers as investigational and, therefore, may not be payable as a covered benefit for patients. Methodology Polymerase chain reaction (PCR) and allele-specific oligonucleotide (ASO) analysis References Schuchman EH and Miranda SR, "Niemann-Pick Disease: Mutation Update, Genotype/Phenotype Correlations, and Prospects for Genetic Testing," Genet Test , 1997, 1(1):13-9 (review).

77. Niemann-Pick Disease In niemannpick disease, harmful quantities of a fatty substance accumulatein the spleen, liver, lungs, bone marrow and sometimes in the brain. http://www.einstein.edu/e3front.dll?durki=7175

78. CCHS Clinical Digital Library Clinical Resources by Topic Metabolic Disorders. niemannpick DiseasesClinical Resources. niemann-pick Disease List of documents. http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingoli

Clinical Resources by Topic: Metabolic Disorders Niemann-Pick Diseases Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Resources Niemann-Pick Disease Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document Neutral Glycosphingolipid Lipid Storage Disorders: Access document Chapter 259: Interstitial Lung Diseases: Table of contents Individual Forms of ILD: Access document Inherited Disorders Associated with ILD: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):

79. Health Library - Niemann Pick Disease Saint Luke's Health System eLibrary. Niemann Pick Disease. niemannpick disease(NPD) is a group of rare inherited disorders of fat metabolism. http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h

80. Ziekte Van Niemann-Pick Beginpagina — Ziekten en aandoeningen — Ziekte van niemannpick Ziekte vanniemann-pick Synoniemen Sfingomyeline Lipidose Sfingomyelinase Deficiëntie. http://www.erfocentrum.nl/zena/niema.php

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

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