1. Pediatric Database A definition of abetalipoproteinemia, followed by epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/ABETALIP.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 5/05/94 ABETALIPOPROTEINEMIA DEFINITION: A disorder of lipid metabolism characterized by fat malabsorption, acanthocytosis, retinopathy, and progressive neurologic disease. EPIDEMIOLOGY: incidence: rare age of onset: 1st year (gastrointestinal manifestations) first 10 years (neurologic and ocular manifestations) risk factors: familial - autosomal recessive chrom. #: ?2p24 gene: ? PATHOGENESIS: 1. Background cholesterol and triglycerides are transported in the circulation in macromolecular complexes called lipoproteins the protein component of lipoproteins are called apolipoproteins abetalipoproteinemia is considered to be a defect in the absorption and transport of lipids heterozygotes are asymptomatic 2. Genetic Defect 1. Gastrointestinal malabsorption of fats and fat-soluble vitamins: anemia and coagulopathy night blindness and retinopathy 2. Peripheral Nervous System 3. Hematological CLINICAL FEATURES: 1. Gastrointestinal Manifestations initially present from newborn period to 1 year of age 1. Malabsorption Syndrome

2. Abetalipoproteinemia abetalipoproteinemia. rare, autosomal recessive; malabsorption offat. progressive neurologic deterioration; retinitis pigmentosa. In http://chorus.rad.mcw.edu/doc/00432.html

CHORUS Collaborative Hypertext of Radiology Small bowel Feedback Search abetalipoproteinemia rare, autosomal recessive malabsorption of fat progressive neurologic deterioration retinitis pigmentosa In GI tract: thick SB folds "cobblestone" mucosa Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

3. ABETALIPOPROTEINEMIA A brief definition of abetalipoproteinemia.Category Health Conditions and Diseases abetalipoproteinemia......abetalipoproteinemia A rare congenital disorder that causes the body to notproduce chylomicrons, low density lipoprotein (LDL), and very low density http://www.medhelp.org/glossary/new/GLS_0033.HTM

Welcome to .... Advertisement ABETALIPOPROTEINEMIA - A rare congenital disorder that causes the body to not produce chylomicrons, low density lipoprotein LDL ), and very low density lipoprotein VLDL ). Individuals with this condition are unable to properly digest fats. Other findings include ataxia peripheral neuropathy , and other forms of nerve dysfunction. Treatment includes vitamin E Med Help International Search Ask the Doctor Forums ... Patient Network The medical glossary has been made possible by a generous donation from: (revised: 1996) Advertisement

4. Abetalipoproteinemia Feature article on abetalipoproteinemia, dated 7/26/01. What is it? abetalipoproteinemia (also known as BassenKornzweig syndrome) is an inherited disorder that affects how http://rarediseases.about.com/library/weekly/aa072601a.htm

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 Abetalipoproteinemia Problem with using fat in the body Related Resources Additional information From Other Guides Retinitis pigmentosa resources Elsewhere on the Web Discussion group By Mary Kugler, MSN, RN,C About.com Guide to Rare/Orphan Diseases July 26, 2001 What is it? Abetalipoproteinemia (also known as Bassen-Kornzweig syndrome) is an inherited disorder that affects how fats are made and used in the body. The body needs fats for healthy nerves, muscles, and digestion. Like oil and water, fats can't travel in the blood around the body by themselves-they just don't mix in. Fats attach to special proteins called lipoproteins to travel to wherever they're needed. Because of a genetic disorder, people with abetalipoproteinemia don't produce a critical "building block" (a special protein) for making lipoproteins. Without enough lipoproteins, fats can't be digested properly or travel around the body to where they're needed, which leads to serious health problems.

5. Abetalipoproteinemia Links to information and resources for abetalipoproteinemia, also known as BassenKornzweigsyndrome. abetalipoproteinemia (Chromosome 4) Guide picks. http://rarediseases.about.com/cs/abetalipoproteinem/

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 Abetalipoproteinemia (Chromosome 4) Guide picks An error on Chromosome 4 produces this disorder, in which fats are absorbed but can't be broken down by the body. Also known as Bassen-Kornzweig syndrome. Feature article on abetalipoproteinemia About.com Guide to Rare Diseases describes the disorder and its treatment. Abetalipoproteinemia Discussion Group Discussion group for people concerned with the disorder. Requires free registration. Medical College of Wisconsin: Vitamin E Information about Vitamin E (a treatment for abetalipoproteinemia) from the Medical College of Wisconsin. Retinitis Pigmentosa Links to information and support for this vision disorder which affects people with abetalipoproteinemia, from the About.com Guide to Blindness. Email this page!

6. Med Help A brief definition of abetalipoproteinemia. http://medhlp.netusa.net/glossary/new/GLS_0033.HTM

7. ORPHANET® : Abetalipoproteinemia Translate this page ORPHANET. ORPHANET database access. abetalipoproteinemia. Directaccess to details Alias Bassen-Kornzweig disease. Home Page. http://www.orpha.net/static/GB/abetalipoproteinemia.html

ORPHANET database access Abetalipoproteinemia Direct access to details Alias : Home Page

8. Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Neurological_Disorders/

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Brain Diseases > Metabolic Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

9. Service Page - Pathologie Information DISEASE abetalipoproteinemia, Synonym(s) BassenKornzweig disease,CIM E78.6, abetalipoproteinemia, Bassen Kronsweig Disease. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=14

10. Abetalipoproteinemia Medical Encyclopdia article about abetalipoproteinemia A resource with information on over 4000 medical topics including abetalipoproteinemia http://www.marylandadd.com/medical-terms/04182.htm

Abetalipoproteinemia A Medical Encyclopedia Article provided by Maryland General Hospital A resource with information on over 4000 medical topics including: Abetalipoproteinemia Previous Next

11. SISTEMA DE INFORMACION SOBRE ENFERMEDADES RARAS EN ESPAÑOL (SIERE) Translate this page La abetalipoproteinemia es una enfermedad del tubo digestivo que se caracterizapor la ausencia de lipoproteínas de muy baja densidad (VLDL) y de http://cisat.isciii.es/er/prg/er_bus2.asp?cod_enf=6

12. Abetalipoproteinemia rare, autosomal recessive malabsorption of fat progressive neurologic deterioration In GI tract © 2002, C.E. http://chorus.rad.mcw.edu/to-go/00432.html

abetalipoproteinemia rare, autosomal recessive malabsorption of fat progressive neurologic deterioration retinitis pigmentosa In GI tract: thick SB folds "cobblestone" mucosa Home Small bowel

13. Abetalipoproteinemia (Bassen Kornzweig Syndrome) Abetalipoproteinaemia (Bassen-Kornzweig Syndrome); abetalipoproteinemia; http://www.bdid.com/abetalipoproteinemia.htm

HOME Abetalipoproteinemia (Bassen Kornzweig Syndrome) abetalipoproteinemia Abetalipoproteinaemia (Bassen-Kornzweig Syndrome) Abetalipoproteinemia abetalipoproteinemia ... HOME

14. Birth Disorder Information Directory - A Deficiency/Defect Anomalad/Syndrome See Prune Belly Syndrome. abetalipoproteinemia(Bassen Kornzweig Syndrome) List of Sites. Ablepharon http://www.bdid.com/defectaa.htm

HOME Aa-Af Aagenaes Syndrome (Cholestasis-Lymphedema Syndrome) Cholestasis with lymphedema (Aagenaes syndrome) Aagenaes* Syndrom Aagenaes aagenaes syndrome ... Aagenaes* Syndrom Aarskog (Scott) Syndrome (Faciodigitogenital Syndrome, Faciogenital Dysplasia) List of Sites Aarskog-Like Syndrome (Faciodigitogenital Syndrome, Recessive Form; Teebi Naguib Alawadi Syndrome) Aarskog like syndrome FACIODIGITOGENITAL SYNDROME, RECESSIVE Aarskog Ose Pande Syndrome (Lipodystrophy Rieger Anomaly Diabetes) Aarskog ose pande syndrome LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY, SHORT STATURE, AND INSULINOPENIC DIABETES MELLITUS AASE Syndrome (Anemia with Triphalangeal Thumbs) List of Sites AASE Smith Syndrome (Hydrocephalus with Cleft Palate and Joint Contractures) AASE-Smith - Hydrocephalus; Cleft Palate; Joint Contractures AASE-SMITH SYNDROME AASE Smith Aase-Smith syndrome ABCD Syndrome (Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness) abcd syndrome ABCD SYNDROME Abdallat Davis Farrage Syndrome (Neurocutaneous Syndrome, Abdallat Type; Spastic Paraplegia-Pigmentary Abnormalities) Abdallat (1980) - Neurocutaneous Syndrome SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES abdallat davis farrage syndrome abdallat davis farrage syndrome Abdominal Muscle Absence/Aplasia/Deficiency/Defect Anomalad/Syndrome See Prune Belly Syndrome Abetalipoproteinemia (Bassen Kornzweig Syndrome) List of Sites Ablepharon -Ichthyosis Syndrome Ablepharon-Ichthyosis -Macrostomia Syndrome Allison has AMS (Has a photo gallery)

15. 1Up Health > Health Links Directory > Conditions And Diseases: Neurological Diso Conditions and Diseases Neurological Disorders Brain Diseases Metabolic abetalipoproteinemia. Med Help A brief definition of abetalipoproteinemia. http://www.1uphealth.com/links/metabolic-abetalipoproteinemia.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Metabolic : Abetalipoproteinemia Description See Related Categories Health: Conditions and Diseases: Blood Disorders Health: Conditions and Diseases: Nutrition and Metabolism Disorders Health: Conditions and Diseases: Rare Disorders Sites General Practice Notebook - Abetalipoproteinaemia Clinically-oriented information. Med Help A brief definition of abetalipoproteinemia. Pediatric Database A definition of abetalipoproteinemia, followed by epidemiology, pathogenesis, clinical features, investigations and management. people involved in abetalipoproteinemia we are people who have this disorder annd /or family involved. group help with information, support and investigation WebMD/Lycos A definition of Bassen-Kornzweig syndrome, followed by a look at the alternate names, causes, symptoms, tests, treatment, prognosis and complications. Help build the largest human-edited directory on the web.

16. 1Up Health > Bassen-Kornzweig Syndrome > Causes, Incidence, And Risk Factors Of Comprehesive information on BassenKornzweig syndrome (abetalipoproteinemia,Acanthocytosis, Apolipoprotein B deficiency). Covers http://www.1uphealth.com/health/bassen_kornzweig_syndrome_info.html

1Up Health Bassen-Kornzweig syndrome Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Bassen-Kornzweig syndrome Information Bassen-Kornzweig syndrome Causes, Incidence, and Risk Factors Alternative names : Abetalipoproteinemia, Acanthocytosis, Apolipoprotein B deficiency Definition : Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves. Causes, Incidence, and Risk Factors Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP). The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein ) including low-density lipoproteins ( LDL ), very-low-density lipoproteins ( VLDL ), and chylomicrons (small molecules of fat in the blood). People with this disease are unable to properly digest fat, and have underdeveloped nerves (neuropathy), poor muscle coordination (

17. Abetalipoproteinemia - AnsMe.com Dictionary (define) Similar pages Genetic disorder and birth defectsaarskog,aase-smith, Links to genetic support groups and information pages for genetic disorders andbirth defects,aarskog,aase-smith,abetalipoproteinemia,abdominal muscle http://define.ansme.com/words/a/abetalipoproteinemia.html

Search: Web Sites Dictionary - Define Dictionary - Sounds Like Dictionary - Relations Dictionary - Rhymes Dictionary - Translate Sponsors Index Aberdonian aberrance aberrancy aberrant ... abet abetalipoproteinemia abetment abetter abettor abeyance ... abhenry Dictionary - abetalipoproteinemia Show Definition Sounds Similar Relations Rhymes Translate Definition for abetalipoproteinemia abetalipoproteinemia (noun) a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels Source: WordNet ® 1.7, © 2001 Princeton University All other brands are property of their respective owners. Directory Dictionary AIM Smileys Contact Us

18. IComm: File Not Found! BassenKornzweig Syndrome ..abetalipoproteinemia). NationalTay-Sachs and Allied Diseases Association http//www.ntsad.org http://www.icomm.ca/geneinfo/b.htm

File Not Found We're sorry, but the file you're looking for can't be found. You might want to try starting at our front page or a list of iComm accountholders , or you can search the site This site was last updated on 30 August 2002. iComm Questions regarding the iComm web site should be sent to our webmaster

19. Bassen-Kornzweig Syndrome nerves. Alternative Names abetalipoproteinemia; Acanthocytosis; ApolipoproteinB deficiency. Causes, incidence, and risk factors http://www.pennhealth.com/ency/article/001666.htm

Disease Injury Nutrition Poison ... Prevention Bassen-Kornzweig syndrome Definition: Bassen-Kornzweig syndrome is a rare, inherited disease characterized by the inability to fully absorb dietary fats through the gut. It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves. Alternative Names: Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B deficiency Causes, incidence, and risk factors: Bassen-Kornzweig syndrome is an autosomal recessive inherited disorder that affects both sexes, but predominantly males (70%). It is due to mutations in one of two genes: apolipoprotein B (APOB) or microsomal triglyceride transfer protein (MTP). The syndrome causes the body not to make lipoproteins (molecules of fat combined with protein ) including low-density lipoproteins ( LDL ), very-low-density lipoproteins ( VLDL ), and chylomicrons (small molecules of fat in the blood). People with this disease are unable to properly digest fat, and have underdeveloped nerves (neuropathy), poor muscle coordination ( ataxia ), and other nerve disorders.

20. Abetalipoproteinemia Resource Updates abetalipoproteinemia resources. Other forms are much less frequent, andinclude ataxia with vitamin E deficiency, abetalipoproteinemia. http://www.health.xq23.com/inst/Research_Updates/Abetalipoproteinemia.html

Abetalipoproteinemia resources. Information for medical researchers, health professionals, bioscientists, and policy makers. Recommended References. [see index for total category] KEY ABSTRACTS: PUBMED Citations: Innovations and emerging technologies in Abetalipoproteinemia, Patent List (when available) for Abetalipoproteinemia: 6,465,230: 27411, a novel human PGP synthase 6,444,802: Human aminopeptidase 6,403,358: 21529, a novel adenylate cyclase 6,387,638: Heregulin variants 6,369,075: 7[4'-trifluoromethyl-biphenyl-2-carbonyl)amino]-quinoline-3-carboxylic acid amides, and method of inhibiting the secretion of apolipoprotein B 6,365,373: Nucleic acids encoding NGF variants 6,337,187: 18891, a novel human lipase 6,333,310: NGF variants 6,313,169: Lutein esters having high bioavailability 6,288,234: Multibinding inhibitors of microsomal triglyceride transferase protein 6,287,765: Methods for detecting and identifying single molecules 6,281,228: Heterocyclic inhibitors of microsomal triglyceride transfer protein and method 6,280,732: Methods of using an AL-1 neurotrophic factor immunoadhesin

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