1. 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 26 May 2004 Medical College of Wisconsin

2. ABETALIPOPROTEINEMIA Advertisement. abetalipoproteinemia A rare congenital disorder that causes the body to not produce chylomicrons, low 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

3. Abetalipoproteinemia Article describes abetalipoproteinemia, its diagnosis, and treatment. abetalipoproteinemia (also known as BassenKornzweig syndrome) is an inherited disorder that problems caused by lack of http://rarediseases.about.com/library/weekly/aa072601a.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 abetalipoproteinemia Elsewhere on the Web Abetalipoproteinemia discussion group Most Popular The Elephant Man's Bones Reveal Mystery ALD and Lorenzo's Oil Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Christmas Disease Graves' Disease and Research Dystonia and Botox Injections Tourette Syndrome ... Ferraro Fighting Multiple Myeloma Abetalipoproteinemia From Mary Kugler Your Guide to Rare / Orphan Diseases Sign up for my Newsletter Problem with using fat in the body What is it?

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

5. Abetalipoproteinemia - Information / Diagnosis / Treatment / Prevention home neurological disorders brain diseases metabolic abetalipoproteinemiaabetalipoproteinemia. Information • Diagnosis • Treatment • Prevention. http://www.healthcyclopedia.com/neurological-disorders/brain-diseases/metabolic/

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... metabolic > abetalipoproteinemia Abetalipoproteinemia 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: Blood Disorders Chronic Illness Nutrition and Metabolism Disorders Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "abetalipoproteinaemia" Health News: Search millions of published articles for news on Abetalipoproteinemia 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: 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

6. Abetalipoproteinemia Definition Of Abetalipoproteinemia. What Is Abetalipoprotei Definition of abetalipoproteinemia in the Dictionary and Thesaurus. Provides examplesfrom classic literature, search by definition of abetalipoproteinemia. http://www.thefreedictionary.com/abetalipoproteinemia

Dictionaries: General Computing Medical Legal Encyclopedia Abetalipoproteinemia Word: Word Starts with Ends with Definition Noun abetalipoproteinemia - 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 congenital disease genetic abnormality genetic defect genetic disease ... inherited disorder - a disease or disorder that is inherited genetically hypobetalipoproteinemia - a hereditary disorder characterized by low levels of beta-lipoproteins and lipids and cholesterol lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body Legend: Synonyms Related Words Antonyms Some words with "Abetalipoproteinemia" in the definition: acanthocytosis blood disease blood disorder congenital disease ... lipidosis Previous General Dictionary Browser Next aberrancy Aberrancy of curvature aberrant ... Abgeordnetenhaus Full Dictionary Browser Aberration Aberration (enc.) Aberration constant Aberration in optical systems (enc.)

7. THE MERCK MANUAL, Sec. 2, Ch. 16, Hypolipidemia And The Lipidoses syndromes. No treatment is required. abetalipoproteinemia (Acanthocytosis;BassenKornzweig Syndrome). A rare congenital disorder http://www.merck.com/mrkshared/mmanual/section2/chapter16/16a.jsp

8. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Resources Help What's New About. Browse By Condition By Disease Heading Nervous System Diseases abetalipoproteinemia. Include trials that are no longer recruiting patients. 1 study was http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

9. OMIM - ABETALIPOPROTEINEMIA; ABL http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=200100

10. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Resources Help What's New About. Browse By Condition By Disease Heading Blood and Lymph Conditions abetalipoproteinemia. Include trials that are no longer recruiting patients. 1 study http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

11. Entrez PubMed abetalipoproteinemia. New Terms abetalipoproteinemia*/diagnosis; abetalipoproteinemia*/etiology;abetalipoproteinemia*/metabolism; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

12. THE MERCK MANUAL, Sec. 2, Ch. 16, Hypolipidemia And The Lipidoses forms, most of the manifestations described for abetalipoproteinemia (see below) are applicable abetalipoproteinemia is caused by mutations in the gene for microsomal triglyceride http://www.merck.com/pubs/mmanual/section2/chapter16/16a.htm

This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 2. Endocrine And Metabolic Disorders Chapter 16. Hypolipidemia And The Lipidoses Topics Hypolipidemia Lipidoses Hypolipidemia (Hypoproteinemia) Low lipoprotein levels in the plasma seen as rare familial disorders or secondary to hyperthyroidism, malabsorption, and malnutrition. Low levels of low density ( -) lipoproteins (LDL) can be seen in AIDS; hematologic malignancies, such as acute myelocytic leukemia and chronic myelocytic leukemia; and disorders with splenomegaly, such as Gaucher's disease. HYPOALPHALIPOPROTEINEMIA (Low HDL Levels) In many epidemiologic studies, low levels of high density ( -) lipoproteins (HDL) have been associated with increased coronary artery disease (CAD) risk. Low HDL levels often are due to genetic factors. Additionally, HDL levels are reduced by obesity, sedentary lifestyle, cigarette use, diabetes mellitus, uremia and nephrotic syndrome, and several drugs (thiazide diuretics, retinoids, -blockers, androgenic steroids, most progestational drugs, and probucol).

13. ORPHANET® : Abetalipoproteinemia ORPHANET. Orphanet database access. abetalipoproteinemia. Direct accessto data Summary Abetaliproteinemia is an autosomal recessive http://www.orpha.net/static/GB/abetalipoproteinemia.html

Orphanet database access Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low ( <70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 01/06/2004 Orphanet database access

14. ORPHANET® : Abetalipoproteinemia absorção/diarreia crónica; Alterações pigmentares periféricas da retina; http://www.orpha.net/static/PT/abetalipoproteinemia.html

Abetalipoproteinemia Hereditariedade autossómica recessiva Má absorção/diarreia crónica Alterações pigmentares periféricas da retina Arreflexia/hiporreflexia Doença do movimento Hipotonia Perda de visão-grave

15. NeuroGate.com Global Search Add Url - Free Medline - Contact Us - Search. Copyright © 1998 byNeurogate.com. All rights reserved. Search results for "abetalipoproteinemia" NO MATCHES FOUND-Please select a different keyword or category OR. Search AltaVista for 'abetalipoproteinemia' Global Search http://www.neurogate.com/neuro/result.php3?search=Abetalipoproteinemia&selec

16. ABETALIPOPROTEINEMIA - Meaning And Definition Of The Word Dictionary, Medical Dictionary. Search Dictionary abetalipoproteinemiaDictionary Entry and Meaning. WordNet Dictionary. Definition n a http://www.hyperdictionary.com/dictionary/abetalipoproteinemia

English Dictionary Computer Dictionary Thesaurus Dream Dictionary ... Medical Dictionary Search Dictionary: ABETALIPOPROTEINEMIA: Dictionary Entry and Meaning WordNet Dictionary Definition: [n] a rare inherited disorder ... levels See Also: congenital disease genetic abnormality genetic defect genetic disease ... ABOUT HYPERDICTIONARY

17. Dorlands Medical Dictionary abetalipoproteinemia (abeta·lipo·pro·tein·emia) (aba²tschwa-lip²o-pro²te-ne¢me-schwa)an autosomal recessive disorder of lipoprotein metabolism in http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

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

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 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. Abetalipoproteinemia Article describes the disorder, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. 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.

19. 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/glossary2/new/gls_0036.htm

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 Home Search Ask the Doctor ... Patient Network The medical glossary has been made possible by a generous donation from:

20. HealthCentral - General Encyclopedia - Bassen-Kornzweig Syndrome Alternative names abetalipoproteinemia Definition A rare, inherited diseasecharacterized by fatty stools and failure to thrive in infancy. http://www.healthcentral.com/mhc/top/001666.cfm

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